#Format: entrez-gene-id	entrez-gene-symbol	[HPOTermName1(HPO-ID1), HPOTermName2(HPO-ID2)] (tab is used as a separator, pound sign - start of a comment)
2	A2M	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
9	NAT1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
18	ABAT	[PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LEUKODYSTROPHY(HP:0002415), GROWTH ABNORMALITY(HP:0001507), HYPERREFLEXIA(HP:0001347)]
19	ABCA1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERSPLENISM(HP:0001971), SYRINGOMYELIA(HP:0003396), ABNORMALITY OF THE MOUTH(HP:0000153), AMYOTROPHY INVOLVING THE MUSCULATURE OF THE HAND(HP:0009130), HYPOCHOLESTEROLEMIA(HP:0003146), VISUAL LOSS(HP:0000572), FACIAL DIPLEGIA(HP:0001349), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), ECTROPION(HP:0000656)]
22	ABCB7	[DYSMETRIA(HP:0001310), DYSDIADOCHOKINESIS(HP:0002075), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPERREFLEXIA(HP:0001347), BABINSKI SIGN(HP:0003487), SPINOCEREBELLAR ATAXIA(HP:0002513), HYPOCHROMIC, MICROCYTIC ANEMIA(HP:0004840), SPINOCEREBELLAR ATROPHY(HP:0007263), METABOLISM ABNORMALITY(HP:0001939), DYSARTHRIA(HP:0001260), CLONUS(HP:0002169), CEREBELLAR ATAXIA, NONPROGRESSIVE(HP:0002470), INTENTION TREMOR(HP:0002080), ONSET IN EARLY CHILDHOOD(HP:0003580)]
24	ABCA4	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CENTRAL RETINITIS PIGMENTOSA(HP:0008506), SENILE MACULAR DEGENERATION(HP:0007868)]
25	ABL1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CHRONIC MYELOGENOUS LEUKEMIA(HP:0005506)]
33	ACADL	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SUDDEN CARDIAC DEATH(HP:0001645), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), NONKETOTIC HYPOGLYCEMIA(HP:0001958), HEPATOMEGALY(HP:0002240), DICARBOXYLIC ACIDURIA(HP:0003215), MUSCULAR HYPOTONIA(HP:0001252), HEPATIC STEATOSIS(HP:0001397), VOMITING(HP:0002013), DECREASED PLASMA CARNITINE(HP:0003234), MUSCLE WEAKNESS(HP:0001324), ONSET IN INFANCY(HP:0003576)]
34	ACADM	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILD METABOLIC ACIDOSIS(HP:0004895), ELEVATED LIVER ENZYMES(HP:0003293), FATTY INFILTRATION OF LIVER(HP:0002252), CEREBRAL EDEMA(HP:0002181), HEPATOMEGALY(HP:0002240), PSYCHOMOTOR RETARDATION(HP:0001255), LETHARGY(HP:0001254), HYPOGLYCEMIA(HP:0001943), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), VOMITING(HP:0002013), MEDIUM CHAIN DICARBOXYLIC ACIDURIA(HP:0008309), DECREASED PLASMA CARNITINE(HP:0003234)]
35	ACADS	[CONTRACTURES(HP:0001371), EXTERNAL OPHTHALMOPLEGIA(HP:0000544), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CARDIOMYOPATHY(HP:0001638), HIGHLY VARIABLE PHENOTYPE(HP:0003815), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MYOPATHY(HP:0003198), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), METABOLIC ACIDOSIS, EPISODIC(HP:0004911), HYPOKINESIA(HP:0002375), ETHYLMALONIC ACIDURIA(HP:0003219), ABNORMALITY OF THE CEREBRAL WHITE MATTER(HP:0002500), FACIAL MUSCLE WEAKNESS(HP:0010628), SPEECH DELAY(HP:0002117), SCOLIOSIS(HP:0002650), PSYCHOSIS(HP:0000709), ONSET AT BIRTH OR EARLY CHILDHOOD(HP:0003595)]
36	ACADSB	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOTHERMIA(HP:0002045), GENERALIZED AMYOTROPHY(HP:0003700), EXOTROPIA(HP:0000577), LETHARGY(HP:0001254), HYPOGLYCEMIA(HP:0001943), APNEIC EPISODES IN INFANCY(HP:0005949), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), MOTOR RETARDATION(HP:0001270), MICROCEPHALY(HP:0000252), ONSET IN INFANCY(HP:0003576)]
37	ACADVL	[SUDDEN CARDIAC DEATH(HP:0001645), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HEPATOCELLULAR NECROSIS(HP:0001404), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), RHABDOMYOLYSIS WITH EXERCISE(HP:0009045), MUSCLE STIFFNESS(HP:0003552), HEPATIC STEATOSIS(HP:0001397), ONSET BEFORE AGE 2 YEARS(HP:0003667), VOMITING(HP:0002013), MYOGLOBINURIA, EXERCISE-INDUCED(HP:0008305), NONKETOTIC HYPOGLYCEMIA(HP:0001958), HEPATOMEGALY(HP:0002240), TACHYPNEA(HP:0002789), DICARBOXYLIC ACIDURIA(HP:0003215), EXERCISE-INDUCED MYALGIA(HP:0003738), DECREASED PLASMA CARNITINE(HP:0003234), MUSCLE WEAKNESS(HP:0001324), INCREASED SERUM CREATINE KINASE(HP:0002147), EARLY ONSET(HP:0003593)]
38	ACAT1	[MENTAL RETARDATION(HP:0001249), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KETOACIDOSIS, EPISODIC(HP:0005974), DEHYDRATION(HP:0001944), VOMITING(HP:0002013)]
51	ACOX1	[TAPETORETINAL DEGENERATION(HP:0000547), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), FRONTAL BOSSING(HP:0002007), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), HYPERTELORISM(HP:0000316), DYSPHAGIA(HP:0002015), INVERTED NIPPLES(HP:0003186), HEPATIC STEATOSIS, DIFFUSE(HP:0006555), FLATTENED NASAL BRIDGE(HP:0000425), BROAD NASAL BRIDGE(HP:0000431), HYPERTONIA(HP:0001276), ONSET IN INFANCY(HP:0003576), IRRITABILITY(HP:0000737), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), BABINSKI SIGN(HP:0003487), NO SOCIAL INTERACTION(HP:0008763), PIGMENTARY RETINOPATHY(HP:0000580), LOW-SET EARS(HP:0000369), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), LEUKODYSTROPHY(HP:0002415), DYSTONIA(HP:0001332), HEARING LOSS, SENSORINEURAL, BILATERAL(HP:0008619), FLATTENED OR ABSENT ELECTRORETINOGRAM(HP:0007845), BRACHYCEPHALY(HP:0000248), STRABISMUS(HP:0000486), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), NEONATAL HYPOTONIA(HP:0001319)]
53	ACP2	[MUSCULAR HYPOTONIA(HP:0001252), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VOMITING(HP:0002013), OPISTHOTONUS(HP:0002179), BLEEDING DIATHESIS(HP:0001892)]
58	ACTA1	[CONGENITAL HIP DISLOCATION(HP:0001374), RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NARROW, HIGH-ARCHED PALATE(HP:0009080), VARIABLE SEVERITY(HP:0003814), FEEDING DIFFICULTIES(HP:0002022), WEAK CRY(HP:0001612), GENERALIZED MUSCLE WEAKNESS(HP:0003324), DYSPHAGIA(HP:0002015), FAILURE TO THRIVE(HP:0001508), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), FACIAL MUSCLE WEAKNESS(HP:0010628), ONSET USUALLY AT BIRTH(HP:0003624), LONG, THIN FACE(HP:0000334), BULBAR PALSY(HP:0001283), TYPE 1 FIBERS ARE AT LEAST 12% SMALLER THAN TYPE 2 FIBERS(HP:0003755), ISOLATED CASES(HP:0001420), METABOLISM ABNORMALITY(HP:0001939), LIMB CONTRACTURES(HP:0003121), SCOLIOSIS(HP:0002650), DECREASED FETAL MOVEMENT(HP:0001558), OPHTHALMOPLEGIA(HP:0000602), NEONATAL HYPOTONIA(HP:0001319)]
60	ACTB	[KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEARING LOSS, SENSORINEURAL(HP:0000407), CATARACT(HP:0000518), CLEFT PALATE(HP:0000175), DEVELOPMENTAL RETARDATION(HP:0001263), MENTAL RETARDATION, MILD(HP:0001256), LOW BIRTH WEIGHT(HP:0001518), ACHALASIA(HP:0002571), EXTERNALLY ROTATED HIPS(HP:0008796), CLEFT LIP(HP:0000204), HYPOPLASTIC SCAPULAE(HP:0000882), HIGH FOREHEAD(HP:0000348), ABNORMALITY OF THE PELVIS(HP:0002644), DYSTONIA(HP:0001332)]
71	ACTG1	[HEARING LOSS, SENSORINEURAL, BILATERAL, PROGRESSIVE(HP:0008601), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
90	ACVR1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOPLASTIC/SHORT 1ST METACARPAL(HP:0010034), SMALL CERVICAL VERTEBRAL BODIES(HP:0004629), PROGRESSIVE CERVICAL VERTEBRAL SPINE FUSION(HP:0008449), ALOPECIA(HP:0001596), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), HALLUX VALGUS(HP:0001822), METAPHYSEAL WIDENING(HP:0003016), ABNORMALITY OF MUSCULATURE(HP:0003011), WIDELY SPACED TEETH(HP:0000687), HEARING LOSS, SENSORINEURAL(HP:0000407), HEARING LOSS, CONDUCTIVE(HP:0000405), MENTAL RETARDATION(HP:0001249), BROAD FEMORAL NECK(HP:0006429), RESPIRATORY INSUFFICIENCY(HP:0002093), MEAN AGE OF ONSET 18 YEARS(HP:0003628), HYDROPS(HP:0000990), SCOLIOSIS(HP:0002650), EDEMA(HP:0000969)]
94	ACVRL1	[CLUBBING(HP:0001217), HEPATIC ARTERIOVENOUS MALFORMATION(HP:0006574), SPONTANEOUS, RECURRENT EPISTAXIS(HP:0004406), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), FINGERPAD TELANGIECTASES(HP:0006107), MIGRAINE(HP:0002076), NAIL BED TELANGIECTASES(HP:0001232), ERYTHROCYTOSIS(HP:0001901), TRANSIENT ISCHEMIC ATTACK(HP:0002326), ANEMIA(HP:0001903), TELANGIECTASES (STOMACH, DUODENUM, SMALL BOWEL, COLON)(HP:0002604), SEIZURES(HP:0001250), CONJUNCTIVAL TELANGIECTASIA(HP:0000524), NASAL MUCOSA TELANGIECTASES(HP:0000434), PALATE TELANGIECTASIA(HP:0002707), CIRRHOSIS(HP:0001394), HEMATOCHEZIA(HP:0002573), DYSPNEA(HP:0002094), PULMONARY HYPERTENSION(HP:0002092), PULMONARY ARTERIOVENOUS MALFORMATION(HP:0006548), HETEROGENEOUS(HP:0001425), GASTROINTESTINAL ANGIODYSPLASIA(HP:0000471), ISCHEMIC STROKE(HP:0002140), SUBARACHNOID HEMORRHAGE(HP:0002138), SPINAL ARTERIOVENOUS MALFORMATION(HP:0002390), MELENA(HP:0002249), HEMATEMESIS(HP:0002248), LIP TELANGIECTASES(HP:0000214), TONGUE TELANGIECTASES(HP:0000227), CEREBRAL ARTERIOVENOUS MALFORMATION(HP:0002408), GASTROINTESTINAL ARTERIOVENOUS MALFORMATION(HP:0002629), RIGHT-TO-LEFT SHUNT(HP:0001694), CYANOSIS(HP:0000961)]
95	ACY1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), DELAYED MYELINATION(HP:0002188), VARIABLE PHENOTYPE(HP:0003813), CEREBRAL ATROPHY(HP:0002059), PSYCHOMOTOR RETARDATION(HP:0001255), ACUTE ENCEPHALOPATHY(HP:0006846), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), HYPERTELORISM(HP:0000316), BROAD NASAL ROOT(HP:0000424), CEREBELLAR ATROPHY(HP:0001272), HYPOKINESIA(HP:0002375), HYPERACTIVITY(HP:0000752), METABOLISM ABNORMALITY(HP:0001939), MUSCLE WEAKNESS(HP:0001324)]
100	ADA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABSENT OR SMALL DYSPLASTIC THYMUS(HP:0005359), ABSENT B CELLS(HP:0002856), LYMPHOPENIA(HP:0001888), AUTOIMMUNE HEMOLYTIC ANEMIA(HP:0001890), PLATYSPONDYLY(HP:0000926), ASTHMA(HP:0002099), EOSINOPHILIA(HP:0001880), DIARRHEA(HP:0002014), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), PNEUMONIA(HP:0002090), ABSENT SPECIFIC ANTIBODY RESPONSE(HP:0005424), DIFFUSE MESANGIAL SCLEROSIS(HP:0001967), NEOPLASIA(HP:0002664), HEPATOMEGALY(HP:0002240), INCREASED IGE LEVEL(HP:0003212), ABNORMALITY OF THE PELVIS(HP:0002644), IDIOPATHIC THROMBOCYTOPENIA(HP:0001936), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), COMBINED IMMUNODEFICIENCY(HP:0005387), SOMATIC MOSAICISM(HP:0001442), RECURRENT BACTERIAL, VIRAL, AND FUNGAL INFECTIONS(HP:0005388), SINUSITIS(HP:0000246), SEVERE COMBINED IMMUNODEFICIENCY(HP:0004430), LATE ONSET(HP:0003584)]
103	ADAR	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPERPIGMENTED/HYPOPIGMENTED MACULES(HP:0007441), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579)]
158	ADSL	[PSYCHOMOTOR RETARDATION(HP:0001255), AUTISM(HP:0000717), METABOLISM ABNORMALITY(HP:0001939), SEIZURES(HP:0001250), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GROWTH RETARDATION(HP:0001510), INTEROSSEUS MUSCLE ATROPHY(HP:0007181)]
174	AFP	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), METABOLISM ABNORMALITY(HP:0001939), HEPATOCELLULAR CARCINOMA(HP:0001402), SPINA BIFIDA(HP:0002414), OMPHALOCELE(HP:0001539), CONGENITAL NEPHROSIS(HP:0008677)]
175	AGA	[DELAYED SKELETAL MATURATION(HP:0002750), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BROAD FACE(HP:0000283), COARSE FACIAL FEATURES(HP:0000280), HYPOPLASTIC FRONTAL SINUSES(HP:0002738), MITRAL REGURGITATION(HP:0001653), HOARSE VOICE(HP:0001609), RECURRENT INFECTIONS(HP:0002719), NEUTROPENIA(HP:0001875), JOINT LAXITY(HP:0001388), SPONDYLOLISTHESIS(HP:0003302), MACROORCHIDISM(HP:0000053), SPONDYLOLYSIS(HP:0003304), KYPHOSIS(HP:0002808), HEPATOMEGALY(HP:0002240), MENTAL DETERIORATION IN CHILDHOOD(HP:0006854), ANGIOKERATOMA CORPORIS DIFFUSUM(HP:0001071), ACNE(HP:0001061), PATHOLOGIC FRACTURE(HP:0002756), WIDE MOUTH(HP:0000154), DYSOSTOSIS MULTIPLEX(HP:0000943), MACROGLOSSIA(HP:0000158), CEREBRAL ATROPHY(HP:0002059), FULL LIPS(HP:0000170), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DIARRHEA(HP:0002014), LOW NASAL BRIDGE(HP:0000428), SPASTIC DIPLEGIA(HP:0001264), ABNORMALITY OF THE EYES(HP:0000478), DECREASED BODY HEIGHT(HP:0004322), THICKENED CALVARIA(HP:0002684), NARES, ANTEVERTED(HP:0000463), SPEECH DELAY(HP:0002117), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), FLATTENING AND ANTERIOR BEAKING OF VERTEBRAL BODIES(HP:0004569), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), VACUOLATED LYMPHOCYTES(HP:0001922), BRACHYCEPHALY(HP:0000248)]
176	ACAN	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), GENU VALGUM(HP:0002857), PLATYSPONDYLY(HP:0000926), FLAT CAPITAL FEMORAL EPIPHYSES(HP:0003370), SHORT STATURE, PROPORTIONATE(HP:0003499), SPONDYLOEPIPHYSEAL DYSPLASIA(HP:0002655), GENU VARUM(HP:0002970)]
178	AGL	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CARDIOMYOPATHY(HP:0001638), DISTAL AMYOTROPHY(HP:0003693), MYOPATHY(HP:0003198), HEPATIC FIBROSIS(HP:0001395), BROAD UPTURNED NASAL TIP(HP:0004501), FLATTENED NASAL BRIDGE(HP:0000425), VENTRICULAR HYPERTROPHY ON ECG(HP:0005167), DECREASED BODY HEIGHT(HP:0004322), HYPERLIPIDEMIA(HP:0003077), HEPATOMEGALY(HP:0002240), HYPOGLYCEMIA(HP:0001943), THIN VERMILLION BORDER(HP:0000233), MUSCLE WEAKNESS(HP:0001324), INCREASED SERUM CREATINE KINASE(HP:0002147), DEEP SET EYES(HP:0000490), ELEVATED TRANSAMINASES(HP:0002910)]
182	JAG1	[AXENFELD ANOMALY(HP:0001492), INTRAHEPATIC DUCT DEFICIENCY(HP:0006571), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), BUTTERFLY VERTEBRAL ARCH(HP:0004617), TETRALOGY OF FALLOT(HP:0001636), SHORT ULNA(HP:0002998), HEPATOCELLULAR CARCINOMA(HP:0001402), CHOLESTASIS(HP:0001396), LONG NOSE(HP:0003189), MENTAL RETARDATION, MILD(HP:0001256), CHORIORETINAL ATROPHY(HP:0000533), FAILURE TO THRIVE(HP:0001508), ABNORMALITY OF THE RIBS(HP:0000772), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), MEDULLARY CYSTIC DISEASE(HP:0005569), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), PROMINENT EYES(HP:0000536), BROAD FOREHEAD(HP:0000337), PREAURICULAR SINUS(HP:0004467), POSTERIOR EMBRYOTOXON(HP:0000627), TRIANGULAR FACIES(HP:0000325), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), HEMIVERTEBRAE(HP:0002937), RETINAL PIGMENT CLUMPING(HP:0007821), RENAL DYSPLASIA(HP:0000110), LEARNING DISABILITY(HP:0001328), PAPILLARY THYROID CARCINOMA(HP:0002895), HYPERCHOLESTEROLEMIA(HP:0003124), ABNORMALITY OF THE ANTERIOR CHAMBER(HP:0000593), COARCTATION OF AORTA(HP:0001680), DEEP SET EYES(HP:0000490), PERIPHERAL PULMONARY ARTERY STENOSIS(HP:0004969), ABSENT DEEP TENDON REFLEXES(HP:0001314), STRABISMUS(HP:0000486), HYPERTRIGLYCERIDEMIA(HP:0002155), ELEVATED TRANSAMINASES(HP:0002910)]
183	AGT	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE URINARY TRACT(HP:0000079), POTTER FACIES(HP:0002009), MICROCEPHALY(HP:0000252), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), RESPIRATORY ABNORMALITY(HP:0002086), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492)]
185	AGTR1	[MULTIFACTORIAL(HP:0001426), ELEVATED DIASTOLIC BLOOD PRESSURE(HP:0005117), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), POTTER FACIES(HP:0002009), ABNORMALITY OF THE URINARY TRACT(HP:0000079), ELEVATED SYSTOLIC BLOOD PRESSURE(HP:0004421), MICROCEPHALY(HP:0000252), RESPIRATORY ABNORMALITY(HP:0002086), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), ELEVATED MEAN ARTERIAL PRESSURE(HP:0004972)]
189	AGXT	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPEROXALURIA(HP:0003159), DEATH IN CHILDHOOD(HP:0003819), CALCIUM OXALATE UROLITHIASIS(HP:0008700), OPTIC NEUROPATHY(HP:0001138), LIVEDO RETICULARIS(HP:0001037), RENAL FAILURE(HP:0000083), PERIPHERAL VASCULAR INSUFFICIENCY(HP:0005309), HEART BLOCK(HP:0001668), ACROCYANOSIS(HP:0001063), INTERMITTENT CLAUDICATION(HP:0004417), PATHOLOGIC FRACTURE(HP:0002756), NEPHROCALCINOSIS(HP:0000121)]
190	NR0B1	[DELAYED PUBERTY(HP:0000823), HYPERPIGMENTATION(HP:0000953), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CRYPTORCHIDISM(HP:0000028), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), FAILURE TO THRIVE(HP:0001508), MINERALOCORTICOID INSUFFICIENCY(HP:0008190), ABSENCE OF PUBERTAL DEVELOPMENT(HP:0008197), LOW GONADOTROPINS (SECONDARY HYPOGONADISM)(HP:0003335), X-LINKED RECESSIVE INHERITANCE(HP:0001419), GLUCOCORTICOID INSUFFICIENCY(HP:0000874), CONTIGUOUS GENE SYNDROME(HP:0001466), DEHYDRATION(HP:0001944), ADRENAL HYPOPLASIA(HP:0000835), HYPONATREMIA(HP:0002902), RENAL SALT WASTING(HP:0000127), ADRENAL INSUFFICIENCY(HP:0000846), LATE ONSET(HP:0003584), PRIMARY ADRENOCORTICAL FAILURE(HP:0008252)]
191	AHCY	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CARDIOMYOPATHY(HP:0001638), HAIR ABNORMALITY(HP:0001595), PSYCHOMOTOR RETARDATION(HP:0001255), ABNORMALITY OF THE TEETH(HP:0000164), HYPERMETHIONINEMIA(HP:0003235), FAILURE TO THRIVE(HP:0001508), FACIAL DYSMORPHISM(HP:0001999)]
203	AK1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEMOLYTIC ANEMIA(HP:0001878)]
204	AK2	[LEUKOPENIA(HP:0001882), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABSENT CELLULAR IMMUNITY(HP:0005354), CONGENITAL AGRANULOCYTOSIS(HP:0005541), LYMPHOPENIA(HP:0001888), ABNORMALITY OF THE THYMUS(HP:0000777)]
207	AKT1	[HETEROGENEOUS(HP:0001425), TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), UTERINE LEIOMYOSARCOMA(HP:0002891), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716), BREAST CANCER(HP:0003002)]
208	AKT2	[NONINSULIN-DEPENDENT DIABETES MELLITUS(HP:0005978), INSULIN RESISTANCE(HP:0000855), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LATE ONSET(HP:0003584)]
210	ALAD	[NEUROPATHY(HP:0003407), RESPIRATORY PARALYSIS(HP:0002203), ELEVATED URINARY DELTA-AMINOLEVULINIC ACID(HP:0003163), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PARESTHESIA(HP:0003401), PARALYSIS(HP:0003470), HEMOLYTIC ANEMIA(HP:0001878), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508)]
212	ALAS2	[SIDEROBLASTIC ANEMIA(HP:0001924), HYPOCHOLESTEROLEMIA(HP:0003146), X-LINKED INHERITANCE(HP:0001417), HYPOCHROMIC ANEMIA(HP:0001931)]
215	ABCD1	[HYPERPIGMENTATION(HP:0000953), BLINDNESS(HP:0000618), PRIMARY ADRENAL INSUFFICIENCY(HP:0008207), HYPOGONADISM(HP:0000135), SPHINCTER DISTURBANCE(HP:0000018), IMPOTENCE(HP:0000802), SLURRED SPEECH(HP:0001350), X-LINKED INHERITANCE(HP:0001417), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), LIMB AND TRUNCAL ATAXIA(HP:0007014), SPASTIC PARAPLEGIA(HP:0001258), POLYNEUROPATHY(HP:0001271), ELEVATED LONG CHAIN FATTY ACIDS(HP:0003455), ABNORMALITY OF THE EARS(HP:0000598)]
216	ALDH1A1	[FACIAL FLUSHING AFTER ALCOHOL INTAKE(HP:0001033), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DELAYED OXIDATION OF ACETALDEHYDE(HP:0003533)]
217	ALDH2	[FACIAL FLUSHING AFTER ALCOHOL INTAKE(HP:0001033), MITOCHONDRIAL INHERITANCE(HP:0001427), DELAYED OXIDATION OF ACETALDEHYDE(HP:0003533)]
224	ALDH3A2	[ABNORMALITY OF THE FEET(HP:0001760), ICHTHYOSIS(HP:0000955), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), SPASTICITY(HP:0001257), ONSET AT BIRTH(HP:0003577), ABNORMALITY OF THE HAND(HP:0001155), MACULAR DEGENERATION(HP:0000608), PHOTOPHOBIA(HP:0000613), DECREASED BODY HEIGHT(HP:0004322), DEMYELINATION IN CENTRAL WHITE MATTER(HP:0007222), ABNORMALITY OF THE NAILS(HP:0001597), HAIR ABNORMALITY(HP:0001595), CONGENITAL ICHTHYOSIS(HP:0007484), THORACIC KYPHOSIS(HP:0002942), METABOLISM ABNORMALITY(HP:0001939), SUPERFICIAL CORNEAL OPACITIES(HP:0007727)]
226	ALDOA	[DELAYED PUBERTY(HP:0000823), JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), NORMOCYTIC ANEMIA(HP:0001897), NORMOCHROMIC ANEMIA(HP:0001895), MENTAL RETARDATION(HP:0001249), SPLENOMEGALY(HP:0001744), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0004824), PTOSIS(HP:0000508), METABOLISM ABNORMALITY(HP:0001939), LOW POSTERIOR HAIRLINE(HP:0002162), CHOLECYSTITIS(HP:0001082), CHOLELITHIASIS(HP:0001081)]
229	ALDOB	[JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FRUCTOSE INTOLERANCE(HP:0005973), PROXIMAL RENAL TUBULAR ACIDOSIS(HP:0002049), HYPERURICOSURIA(HP:0003149), TRANSIENT AMINOACIDURIA(HP:0008273), MALNUTRITION(HP:0004395), SEIZURES(HP:0001250), GASTROINTESTINAL HEMORRHAGE(HP:0002239), VOMITING(HP:0002013), CIRRHOSIS(HP:0001394), ABNORMALITY OF THE TEETH(HP:0000164), FAILURE TO THRIVE(HP:0001508), BICARBONATURIA(HP:0003646), HETEROGENEOUS(HP:0001425), GLYCOSURIA(HP:0003076), HEPATOMEGALY(HP:0002240), METABOLIC ACIDOSIS(HP:0001942), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), HYPOPHOSPHATEMIA(HP:0002148), HYPERURICEMIA(HP:0002149), HYPERBILIRUBINEMIA(HP:0002904), HYPERPHOSPHATURIA(HP:0003109)]
242	ALOX12B	[MENTAL RETARDATION(HP:0001249), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA(HP:0007431), GROWTH RETARDATION(HP:0001510), HAIR ABNORMALITY(HP:0001595), GENITAL HYPOPLASIA(HP:0003241), CONGENITAL NONBULLOUS ICHTHYOSIFORM ERYTHRODERMA(HP:0007479)]
249	ALPL	[RICKETS(HP:0002748), ABNORMALITY OF THE FEET(HP:0001760), OSTEOMALACIA(HP:0002749), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LOW ALKALINE PHOSPHATASE(HP:0003282), ANOREXIA(HP:0002039), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PREMATURE DECIDUOUS TOOTH LOSS(HP:0006323), MICROMELIA(HP:0002983), CRANIOSTENOSIS(HP:0001365), CONSTIPATION(HP:0002019), CHONDROCALCINOSIS(HP:0000934), STILLBORN OR DEATH IN INFANCY(HP:0003823), DOLICHOCEPHALY(HP:0000268), POORLY OSSIFIED CALVARIA(HP:0005474), PLATYSPONDYLY(HP:0000926), ABNORMALITY OF THE VOICE(HP:0001608), VERTEBRAL CLEFTS(HP:0008428), MYOPATHY(HP:0003198), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), FRONTAL BOSSING(HP:0002007), APNEA(HP:0002104), PROPTOSIS(HP:0000520), SEVERE DENTAL CARIES(HP:0006295), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), STILLBIRTH(HP:0001624), SHORT RIBS(HP:0000773), HEMATOLOGICAL ABNORMALITY(HP:0001871), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), RACHITIC ROSARY(HP:0000897), BOWED, SHORT LOWER EXTREMITIES(HP:0006428), UNOSSIFIED VERTEBRAL BODIES(HP:0004606), SHORT, BOWED LIMBS(HP:0003054), SKIN DIMPLE OVER APEX OF LONG BONE ANGULATION(HP:0001024), IRRITABILITY(HP:0000737), HYPERCALCEMIA(HP:0003072), WADDLING GAIT(HP:0002515), ELEVATED PLASMA AND URINE INORGANIC PYROPHOSPHATE (PPI)(HP:0003491), METAPHYSEAL CUPPING(HP:0003021), PREMATURE LOSS OF SECONDARY TEETH(HP:0006357), INTRACRANIAL HEMORRHAGE(HP:0002170), FEVER(HP:0001945), HYPERCALCIURIA(HP:0002150), BLUE SCLERAE(HP:0000592), SHORT LIMB DWARFISM(HP:0003505), PREMATURE LOSS OF PRIMARY TEETH(HP:0006351), POLYHYDRAMNIOS(HP:0001561), PHOSPHOETHANOLAMINURIA(HP:0003239), RECURRENT FRACTURES(HP:0002757), NEPHROCALCINOSIS(HP:0000121)]
257	ALX3	[HYPOPLASTIC FRONTAL SINUSES(HP:0002738), EPICANTHUS(HP:0000286), TETRALOGY OF FALLOT(HP:0001636), MICROPHTHALMOS(HP:0000568), CATARACT(HP:0000518), HYPERTELORISM(HP:0000316), WIDOW'S PEAK(HP:0000349), CENTRAL INCISOR GAP(HP:0001570), HYPOPLASIA OF THE MAXILLA(HP:0000327), MUSCLE HYPOPLASIA(HP:0009004), LOW-SET EARS(HP:0000369), COLOBOMA(HP:0000589), CRANIUM BIFIDUM OCCULTUM(HP:0004423), CAMPTODACTYLY (HANDS)(HP:0010563), HEARING LOSS, CONDUCTIVE(HP:0000405), LIPOMA OF CORPUS CALLOSUM(HP:0006931), FRONTAL CUTANEOUS LIPOMA(HP:0007541), PREAURICULAR SKIN TAG(HP:0000384), COLUMELLA, SHORT(HP:0002000), MENTAL RETARDATION(HP:0001249), MEDIAN CLEFT LIP(HP:0000161), BROAD NASAL ROOT(HP:0000424), BROAD NASAL BRIDGE(HP:0000431), AGENESIS OF CORPUS CALLOSUM(HP:0001274), BROAD NOTCHED NASAL TIP(HP:0005282), CLINODACTYLY OF HANDS(HP:0001157), BRACHYDACTYLY(HP:0001156), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), ANTERIOR BASAL ENCEPHALOCELE(HP:0006992), BIFID NASAL TIP(HP:0000456), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), PECTORAL MUSCLE HYPOPLASIA/APLASIA(HP:0005258), MEDIAN CLEFT PALATE(HP:0009099)]
259	AMBP	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RENAL TUBULAR DYSFUNCTION(HP:0000124)]
265	AMELX	[AMELOGENESIS IMPERFECTA, HYPOPLASTIC(HP:0006331), METABOLISM ABNORMALITY(HP:0001939), X-LINKED DOMINANT INHERITANCE(HP:0001423), MICRODONTIA(HP:0000691)]
266	AMELY	[Y-LINKED INHERITANCE(HP:0001450), ABNORMALITY OF THE TEETH(HP:0000164)]
268	AMH	[METABOLISM ABNORMALITY(HP:0001939), BILATERAL CRYPTORCHIDISM(HP:0008689), INGUINAL HERNIA(HP:0000023)]
269	AMHR2	[METABOLISM ABNORMALITY(HP:0001939), BILATERAL CRYPTORCHIDISM(HP:0008689), INGUINAL HERNIA(HP:0000023)]
270	AMPD1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MUSCLE WEAKNESS(HP:0001324), NEONATAL HYPOTONIA(HP:0001319)]
274	BIN1	[MUSCLE WEAKNESS, PREDOMINANTLY PROXIMAL(HP:0009075), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACIAL MUSCLE WEAKNESS(HP:0010628), GENERALIZED AMYOTROPHY(HP:0003700), FEEDING DIFFICULTIES(HP:0002022), VARIABLE AGE AT ONSET(HP:0003618), AREFLEXIA(HP:0001284), PTOSIS(HP:0000508), SCOLIOSIS(HP:0002650), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), OPHTHALMOPLEGIA(HP:0000602), NEONATAL HYPOTONIA(HP:0001319)]
275	AMT	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IRRITABILITY(HP:0000737), HYPERACTIVITY(HP:0000752), LETHARGY(HP:0001254), MYOCLONUS(HP:0001336), MUSCULAR HYPOTONIA(HP:0001252), NONKETOTIC HYPERGLYCINEMIA(HP:0008288), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEATH IN INFANCY(HP:0001522), AGGRESSIVE BEHAVIOR(HP:0000718), RESTLESSNESS(HP:0000711), HYPOREFLEXIA(HP:0001265), AGENESIS OF CORPUS CALLOSUM(HP:0001274), HYPERGLYCINURIA(HP:0003108)]
282	ANCR	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MICROCEPHALY, POSTNATAL(HP:0005484), HYPERREFLEXIA(HP:0001347), OCCIPITAL PLAGIOCEPHALY(HP:0005469), ABSENT SPEECH(HP:0001617), MILD CORTICAL ATROPHY ON CT OR MRI(HP:0006823), BLOND HAIR(HP:0002214), MANDIBULAR PROGNATHIA(HP:0000303), MICROBRACHYCEPHALY(HP:0002258), HYPOPLASIA OF THE MAXILLA(HP:0000327), BLUE IRIDES(HP:0000635), NYSTAGMUS(HP:0000639), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), WIDELY SPACED TEETH(HP:0000687), CLUMSINESS(HP:0002312), CONSTIPATION(HP:0002019), MACROGLOSSIA(HP:0000158), FEEDING DIFFICULTIES(HP:0002022), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), EEG ABNORMALITIES(HP:0002353), PROGRESSIVE GAIT ATAXIA(HP:0007240), OBESITY(HP:0001513), MACROSTOMIA(HP:0000181), SLEEP-WAKE CYCLE DISTURBANCE(HP:0006979), PAROXYSMAL BURSTS OF LAUGHTER(HP:0000749), DELAYED MOTOR MILESTONES(HP:0002130), HYPOPIGMENTATION OF THE SKIN(HP:0001010), BROAD-BASED GAIT(HP:0002136), HYPERACTIVITY(HP:0000752), ISOLATED CASES(HP:0001420), SCOLIOSIS(HP:0002650), DEEP SET EYES(HP:0000490), STRABISMUS(HP:0000486)]
286	ANK1	[JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SPHEROCYTOSIS(HP:0004444), HEMOLYTIC ANEMIA(HP:0001878), SPLENOMEGALY(HP:0001744), CHOLELITHIASIS(HP:0001081), RETICULOCYTOSIS(HP:0001923), HYPERBILIRUBINEMIA(HP:0002904)]
287	ANK2	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645), ATRIAL FIBRILLATION(HP:0005110), PROLONGED QT INTERVAL ON EKG(HP:0001657), SYNCOPE(HP:0001279), SINUS BRADYCARDIA(HP:0001688)]
291	SLC25A4	[HYPOKINESIA(HP:0002375), HETEROGENEOUS(HP:0001425), SUDDEN DEATH(HP:0001699), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONGESTIVE HEART FAILURE(HP:0001635), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), FACIAL MUSCLE WEAKNESS(HP:0010628), HEARING LOSS, SENSORINEURAL(HP:0000407), RAGGED-RED MUSCLE FIBERS(HP:0003200), MUSCLE BIOPSY SHOWS DECREASED ACTIVITY OF CYTOCHROME C OXIDASE(HP:0003688), MUSCLE BIOPSY SHOWS MULTIPLE MITOCHONDRIAL DNA (MTDNA) DELETIONS(HP:0003689), ELECTRON MICROSCOPY SHOWS SUBSARCOLEMMAL ACCUMULATIONS OF ABNORMALLY SHAPED MITOCHONDRIA(HP:0003548), EXERCISE INTOLERANCE(HP:0003546), PTOSIS(HP:0000508), ASYMMETRIC SEPTAL HYPERTROPHY(HP:0001670), METABOLISM ABNORMALITY(HP:0001939), PROGRESSIVE DISORDER(HP:0003676), GENERALIZED MUSCLE WEAKNESS(HP:0003324), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), EXTERNAL OPHTHALMOPLEGIA, PROGRESSIVE (PEO)(HP:0000590), SUBAORTIC STENOSIS(HP:0001682), ONSET IN ADULTHOOD(HP:0003581)]
324	APC	[TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), MULTIPLE ADENOMATOUS COLON POLYPS(HP:0005227), CONGENITAL HYPERTROPHY OF RETINAL PIGMENT EPITHELIUM(HP:0007649), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCREASED SKIN PIGMENTATION(HP:0007527), LIPOMAS(HP:0001012), SUPERNUMERARY TEETH(HP:0000672), SMALL INTESTINE CARCINOID(HP:0006722), COLON CANCER(HP:0003003), MULTIPLE GASTRIC POLYPS(HP:0004394), MULTIPLE DUODENAL POLYPS(HP:0004783), CHRONIC ATROPHIC GASTRITIS(HP:0002582), HEPATOBLASTOMA(HP:0002884), ASTROCYTOMA(HP:0009592), MEDULLOBLASTOMA(HP:0002885), UTERINE LEIOMYOSARCOMA(HP:0002891), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716), UNERUPTED TEETH(HP:0000706), ADRENAL CARCINOMA(HP:0002889), PAPILLARY THYROID CARCINOMA(HP:0002895), CARIOUS TEETH(HP:0000670), ABNORMALITY OF THE BREASTS(HP:0000769)]
326	AIRE	[KERATOCONJUNCTIVITIS(HP:0001096), DIABETES MELLITUS(HP:0000819), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPARATHYROIDISM(HP:0000829), HYPOGONADISM, FEMALE(HP:0000134), CHRONIC MUCOCUTANEOUS CANDIDIASIS(HP:0002728), MALABSORPTION(HP:0002024), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), CHRONIC ATROPHIC GASTRITIS(HP:0002582), DIARRHEA(HP:0002014), ASPLENIA(HP:0001746), HEMATOLOGICAL ABNORMALITY(HP:0001871), HYPOALDOSTERONISM, TRANSIENT, ISOLATED(HP:0008184), ONSET IN CHILDHOOD(HP:0003578), ALOPECIA(HP:0001596), VITILIGO(HP:0001045), CHOLELITHIASIS(HP:0001081), ADRENAL INSUFFICIENCY(HP:0000846), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
335	APOA1	[HYPERTENSION(HP:0000822), RENAL AMYLOIDOSIS(HP:0001917), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONGESTIVE HEART FAILURE(HP:0001635), ABNORMALITY OF THE SKIN(HP:0000951), PEPTIC ULCER(HP:0004398), HEMATURIA(HP:0000790), CORNEAL CLOUDING(HP:0000515), CHOLESTASIS(HP:0001396), SPLENOMEGALY(HP:0001744), GENERALIZED AMYLOID DEPOSITION(HP:0003216), CORONARY ATHEROSCLEROSIS(HP:0004929), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), HEPATOMEGALY(HP:0002240), NEPHROTIC SYNDROME(HP:0000100), NEUROLOGICAL ABNORMALITY(HP:0000707), NEPHROPATHY(HP:0000112)]
336	APOA2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), XANTHELASMA(HP:0001114), HYPERCHOLESTEROLEMIA(HP:0003124), CORNEAL ARCUS(HP:0001084), CORONARY ARTERY DISEASE PRESENTING AFTER AGE 30 YEARS IN HETEROZYGOTES, IN CHILDHOOD IN HOMOZYGOTES(HP:0005138)]
337	APOA4	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
338	APOB	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE ABDOMEN(HP:0001438), XANTHELASMA(HP:0001114), INCREASED LDL CHOLESTEROL(HP:0008343), RETINITIS PIGMENTOSA(HP:0000510), ATAXIA(HP:0001251), CORONARY ARTERY DISEASE(HP:0001677), HYPOBETALIPOPROTEINEMIA(HP:0003563), HYPERCHOLESTEROLEMIA(HP:0003124), RED CELL ACANTHOCYTOSIS(HP:0001927), CORNEAL ARCUS(HP:0001084), WEAK OR ABSENT DEEP TENDON REFLEXES(HP:0001316)]
344	APOC2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ERUPTIVE XANTHOMAS(HP:0001013), HEPATOMEGALY(HP:0002240), PANCREATITIS(HP:0001733), SPLENOMEGALY(HP:0001744), LIPEMIA RETINALIS(HP:0000660), HYPERTRIGLYCERIDEMIA(HP:0002155)]
348	APOE	[HYPOTHYROIDISM(HP:0000821), ALZHEIMER DISEASE(HP:0002511), ABNORMALITY OF THE EYES(HP:0000478), MILD HYPERTRIGLYCERIDEMIA(HP:0008332), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE SKIN(HP:0000951), MILD THROMBOCYTOPENIA(HP:0001906), PARKINSONISM(HP:0001300), PREMATURE PERIPHERAL VASCULAR DISEASE(HP:0005299), NEUROFIBRILLARY TANGLES(HP:0002185), ABNORMAL GLUCOSE TOLERANCE(HP:0001952), SPORADIC(HP:0003745), HYPERLIPIDEMIA(HP:0003077), NEUROFIBRILLARY TANGLES COMPOSED OF DISORDERED MICROTUBULES IN NEURONS(HP:0003132), CIRRHOSIS(HP:0001394), SPLENOMEGALY(HP:0001744), LONG-TRACT SIGNS(HP:0002423), ANGINA PECTORIS(HP:0001681), ABSENT AXILLARY HAIR(HP:0002221), LATE ONSET(HP:0003584)]
351	APP	[ALZHEIMER DISEASE(HP:0002511), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DEMENTIA, PROGRESSIVE, WITH ONSET OF DISEASE(HP:0007283), PARKINSONISM(HP:0001300), NEUROFIBRILLARY TANGLES(HP:0002185), TORTUOUS CEREBRAL ARTERIES(HP:0004938), LONG-TRACT SIGNS(HP:0002423), RECURRENT CEREBRAL AND CEREBELLAR HEMORRHAGE(HP:0004968), CEREBRAL ISCHEMIA(HP:0002637)]
353	APRT	[ABNORMALITY OF THE URETERS(HP:0000069), METABOLISM ABNORMALITY(HP:0001939), RENAL FAILURE(HP:0000083), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
355	FAS	[INCREASED PROPORTION OF HLA DR+ AND CD57+ T CELLS(HP:0002853), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCREASED NUMBER OF CD4-/CD8- T CELLS EXPRESSING ALPHA/BETA T-CELL RECEPTORS(HP:0002851), AUTOIMMUNE NEUTROPENIA(HP:0001904), DEFECTIVE LYMPHOCYTE APOPTOSIS(HP:0002731), CHRONIC NONINFECTIOUS LYMPHADENOPATHY(HP:0002730), DIRECT COOMBS POSITIVE(HP:0003539), LYMPH NODES SHOW FLORID REACTIVE FOLLICULAR HYPERPLASIA AND MARKED PARACORTICAL EXPANSION WITH IMMUNOBLASTS AND PLASMA CELLS(HP:0002729), AUTOIMMUNE HEMOLYTIC ANEMIA(HP:0001890), IRON DEFICIENCY ANEMIA(HP:0001891), EOSINOPHILIA(HP:0001880), SPLENOMEGALY(HP:0001744), NEUTROPHIL ANTIBODY POSITIVE(HP:0003453), REDUCED DELAYED HYPERSENSITIVITY(HP:0002972), PLATELET ANTIBODY POSITIVE(HP:0003454), INCREASED NUMBER OF PERIPHERAL CD3+ T CELLS(HP:0002845), IMMUNE THROMBOCYTOPENIA(HP:0001973), URTICARIA(HP:0001025), RHEUMATOID FACTOR POSITIVE(HP:0002923), HEPATOMEGALY(HP:0002240), PHOSPHOLIPID ANTIBODY POSITIVE(HP:0003613), ANTINUCLEAR ANTIBODY POSITIVE(HP:0003493), INCREASED IGM LEVEL(HP:0003496), SMOOTH MUSCLE ANTIBODY POSITIVE(HP:0003262), INCREASED IGA LEVEL(HP:0003261), INCREASED IGG LEVEL(HP:0003237)]
359	AQP2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONSTIPATION(HP:0002019), FEEDING DIFFICULTIES(HP:0002022), SEIZURES(HP:0001250), VOMITING(HP:0002013), HYPERTONIC DEHYDRATION(HP:0001986), FAILURE TO THRIVE(HP:0001508), LOWER URINARY TRACT DILATATION MAY OCCUR OVER TIME(HP:0002838), MENTAL RETARDATION CAN OCCUR IN PATIENTS WITH REPEATED EPISODES OF DEHYDRATION(HP:0002482), HETEROGENEOUS(HP:0001425), IRRITABILITY(HP:0000737), HYPERNATREMIA(HP:0003228), DECREASED BODY HEIGHT(HP:0004322), POLYDIPSIA(HP:0001959), UNEXPLAINED FEVERS(HP:0001955), ONSET IN FIRST WEEKS OF LIFE(HP:0003622), DIABETES INSIPIDUS(HP:0000873), POLYURIA(HP:0000103)]
367	AR	[WEAKNESS(HP:0002309), CALF HYPERTROPHY(HP:0003703), MUSCLE CRAMPS(HP:0003394), HYPOGONADISM(HP:0000135), ABNORMALITY OF THE MOUTH(HP:0000153), INGUINAL HERNIA(HP:0000023), AZOOSPERMIA(HP:0000027), TESTICULAR ATROPHY(HP:0000029), CRYPTORCHIDISM(HP:0000028), ABSENT UTERUS(HP:0000151), ABNORMALITY OF THE VOICE(HP:0001608), INFERTILITY(HP:0000789), SPARSE TO ABSENT PUBIC HAIR(HP:0004778), SLOW PROGRESSION(HP:0003677), PRIMARY AMENORRHEA(HP:0000786), MALE PSEUDOHERMAPHRODITISM(HP:0000037), OLIGOSPERMIA(HP:0000798), GENERALIZED MUSCLE WEAKNESS(HP:0003324), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), PERINEAL HYPOSPADIAS(HP:0000051), BIFID SCROTUM(HP:0000048), MICROPENIS(HP:0000054), GYNECOMASTIA(HP:0000771), GROWTH ABNORMALITY(HP:0001507), HYPOREFLEXIA(HP:0001265), ONSET IN CHILDHOOD(HP:0003578), FASCICULATIONS(HP:0002380), SENSORY NEUROPATHY(HP:0000763), X-LINKED RECESSIVE INHERITANCE(HP:0001419), BULBAR PALSY(HP:0001283), NEOPLASIA(HP:0002664), TREMOR(HP:0001337), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), ELEVATED FOLLICLE STIMULATING HORMONE(HP:0008232), ABSENT PUBIC AND AXILLARY HAIR(HP:0004556), INTEROSSEUS MUSCLE ATROPHY(HP:0007181), INCREASED SERUM CREATINE KINASE(HP:0002147), ABSENT FACIAL HAIR(HP:0002550), FEMALE EXTERNAL GENITALIA IN MALES(HP:0008730), SPARSE TO ABSENT AXILLARY HAIR(HP:0004545)]
368	ABCC6	[ANGIOID STREAKS(HP:0001102), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MITRAL VALVE PROLAPSE(HP:0001634), CONGESTIVE HEART FAILURE(HP:0001635), ABNORMALITY OF THE SKIN(HP:0000951), HIGH-ARCHED PALATE(HP:0000156), RETINAL HEMORRHAGE(HP:0000573), GASTROINTESTINAL HEMORRHAGE(HP:0002239), CALCIFICATION OF FALX CEREBRI(HP:0005462), KYPHOSIS(HP:0002808), MACULAR DEGENERATION(HP:0000608), STROKE(HP:0001297), MITRAL STENOSIS(HP:0001718), PREMATURE OCCLUSIVE VASCULAR DISEASE(HP:0005297), ABNORMALITY OF THE STERNUM(HP:0000766), RENAL FAILURE(HP:0000083), ACCELERATED ATHEROSCLEROSIS(HP:0004943), RESTRICTIVE CARDIOMYOPATHY(HP:0001723), IMPAIRED VISION(HP:0000505), CEREBRAL HEMORRHAGE(HP:0001342), SCOLIOSIS(HP:0002650), BLUE SCLERAE(HP:0000592), ANGINA PECTORIS(HP:0001681), INTERMITTENT CLAUDICATION(HP:0004417), MEDIAL CALCIFICATION OF MEDIUM-SIZED AND MAJOR ARTERIES(HP:0004966), ARTERIOSCLEROSIS(HP:0002634), CENTRAL SCOTOMA(HP:0000603)]
369	ARAF	[METABOLISM ABNORMALITY(HP:0001939), X-LINKED INHERITANCE(HP:0001417), NEOPLASIA(HP:0002664)]
383	ARG1	[OROTICACIDURIA(HP:0003218), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANOREXIA(HP:0002039), IRRITABILITY(HP:0000737), DIAMINOACIDURIA(HP:0008339), HYPERACTIVITY(HP:0000752), CYSTINURIA(HP:0003131), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), PROGRESSIVE SPASTIC QUADRIPLEGIA(HP:0002478), DEVELOPMENTAL RETARDATION(HP:0001263), VOMITING(HP:0002013), HYPERAMMONEMIA(HP:0001987), GROWTH FAILURE(HP:0001517)]
401	PHOX2A	[EXOTROPIA(HP:0000577), CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES(HP:0001491), BILATERAL PTOSIS(HP:0001488), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AMBLYOPIA(HP:0000646), RESTRICTIVE OPHTHALMOPLEGIA(HP:0007846), SEVERE LIMITATIONS OF EYE MOVEMENTS(HP:0007959)]
410	ARSA	[NEUROPATHY(HP:0003407), TETRAPLEGIA(HP:0002445), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CHOREA(HP:0002072), URINARY INCONTINENCE(HP:0000020), GALLBLADDER DYSFUNCTION(HP:0005609), HYPERREFLEXIA(HP:0001347), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), DYSARTHRIA(HP:0001260), MENTAL DETERIORATION(HP:0001268), HYPOREFLEXIA(HP:0001265), EMG SHOWS NEUROPATHIC CHANGES(HP:0003445), ONSET IN ADULTHOOD(HP:0003581), SPASTIC TETRAPLEGIA(HP:0002510), DELUSIONS(HP:0000746), HYPOKINESIA(HP:0002375), LOSS OF SPEECH(HP:0002371), HALLUCINATIONS(HP:0000738), INCREASED CSF PROTEIN(HP:0002922), ABNORMALITY OF THE CEREBRAL WHITE MATTER(HP:0002500), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), GAIT DISTURBANCE(HP:0001288), PROGRESSIVE PERIPHERAL NEUROPATHY(HP:0007133), BULBAR PALSY(HP:0001283), JUVENILE ONSET(HP:0003621), BABINSKI SIGN(HP:0003487), EMOTIONAL LABILITY(HP:0000712), METABOLISM ABNORMALITY(HP:0001939), DYSTONIA(HP:0001332), CHOLECYSTITIS(HP:0001082), POOR SCHOOL PERFORMANCE(HP:0000730), ONSET IN ADOLESCENCE(HP:0003590), DEMYELINATION(HP:0003381)]
411	ARSB	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILDLY COARSE FACIES(HP:0000281), MACROCEPHALY(HP:0000256), INGUINAL HERNIA(HP:0000023), ABNORMALITY OF THE HEART VALVES(HP:0001654), DOLICHOCEPHALY(HP:0000268), HYPOPLASTIC ACETABULAE(HP:0003274), CORNEAL CLOUDING(HP:0000515), DERMATAN SULFATE EXCRETION IN URINE(HP:0008301), OVOID VERTEBRAL BODIES(HP:0003300), HIP DYSPLASIA(HP:0001385), JOINT STIFFNESS(HP:0001387), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), BROAD RIBS(HP:0000885), PROMINENT STERNUM(HP:0000884), INTEGUMENT ABNORMALITY(HP:0001574), HEPATOMEGALY(HP:0002240), UMBILICAL HERNIA(HP:0001537), SHORT-TRUNKED DWARFISM(HP:0003500), HEARING LOSS(HP:0000365), CERVICAL MYELOPATHY(HP:0002318), GENU VALGUM(HP:0002857), DYSOSTOSIS MULTIPLEX(HP:0000943), MACROGLOSSIA(HP:0000158), FREQUENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0001740), SPLENOMEGALY(HP:0001744), WIDENED, IRREGULAR METAPHYSES(HP:0005038), SMALL, FLARED ILIAC WINGS(HP:0003181), LOW NASAL BRIDGE(HP:0000428), ANTERIOR WEDGING OF L1 AND L2(HP:0008432), EPIPHYSEAL DYSPLASIA(HP:0002656), ECTRODACTYLY (HANDS)(HP:0001171), LUMBAR HYPERLORDOSIS(HP:0002938), HYDROCEPHALUS(HP:0000238), GLAUCOMA(HP:0000501)]
412	STS	[ICHTHYOSIS(HP:0000955), HYPOGONADISM(HP:0000135), CONGENITAL ICHTHYOSIS(HP:0007484), CORNEAL OPACITIES, NOT IMPAIRING VISUAL ACUITY(HP:0007759), HYPERTROPHIC ICHTHYOSIS, ESP SCALP, EARS, NECK AND FLEXURES(HP:0007547), X-LINKED RECESSIVE INHERITANCE(HP:0001419), CRYPTORCHIDISM(HP:0000028), METABOLISM ABNORMALITY(HP:0001939), MENTAL RETARDATION(HP:0001249)]
415	ARSE	[ICHTHYOSIS(HP:0000955), HYPOGONADISM(HP:0000135), CATARACT(HP:0000518), NASAL HYPOPLASIA(HP:0003196), ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925), DEVELOPMENTAL RETARDATION(HP:0001263), FLATTENED NASAL BRIDGE(HP:0000425), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), SHORT NASAL SEPTUM(HP:0000420), DECREASED BODY HEIGHT(HP:0004322), ANOSMIA(HP:0000458), STIPPLING OF THE EPIPHYSES(HP:0010655), X-LINKED RECESSIVE INHERITANCE(HP:0001419), MICROCEPHALY(HP:0000252), HEARING LOSS(HP:0000365)]
427	ASAH1	[ABNORMALITY OF THE EYES(HP:0000478), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PERIARTICULAR SUBCUTANEOUS NODULES(HP:0007470), IRRITABILITY(HP:0000737), HEPATOMEGALY(HP:0002240), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), METABOLISM ABNORMALITY(HP:0001939), HOARSE CRY(HP:0001615), MOTOR RETARDATION(HP:0001270), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), NEPHROPATHY(HP:0000112), RESPIRATORY INSUFFICIENCY(HP:0002093)]
429	ASCL1	[ABNORMALITY OF THE MOUTH(HP:0000153), CONGENITAL MEGACOLON(HP:0002251), LOW-SET EARS(HP:0000369), NEUROLOGICAL ABNORMALITY(HP:0000707), POSTERIORLY ROTATED EARS(HP:0000358), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626)]
435	ASL	[PROTEIN AVOIDANCE(HP:0002038), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ARGININE DEFICIENCY(HP:0005961), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL EDEMA(HP:0002181), LETHARGY(HP:0001254), ATAXIA(HP:0001251), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), HEPATIC FIBROSIS(HP:0001395), VOMITING(HP:0002013), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508), HIGH PLASMA GLUTAMINE(HP:0003217), IRRITABILITY(HP:0000737), HAIR ABNORMALITY(HP:0001595), ONSET IN NEONATAL PERIOD(HP:0003623), HEPATOMEGALY(HP:0002240), RESPIRATORY ALKALOSIS(HP:0001950), EPISODIC AMMONIA INTOXICATION(HP:0001951)]
440	ASNS	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
443	ASPA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GENERALIZED SEIZURES(HP:0002197), DEAFNESS(HP:0000404), MACROCEPHALY(HP:0000256), DELAYED CLOSURE OF THE ANTERIOR FONTANELLE(HP:0001476), OPISTHOTONUS(HP:0002179), CEREBRAL ATROPHY(HP:0002059), MUSCULAR HYPOTONIA(HP:0001252), OPTIC ATROPHY(HP:0000648), LOSS OF VERY EARLY MILESTONES(HP:0007242), HYPOKINESIA(HP:0002375), BLINDNESS(HP:0000618), HYPODYSPLASIA OF THE CORPUS CALLOSUM(HP:0006849), NYSTAGMUS(HP:0000639), METABOLISM ABNORMALITY(HP:0001939), DEMYELINATION(HP:0003381)]
445	ASS1	[HIGH PLASMA GLUTAMINE(HP:0003217), PROTEIN AVOIDANCE(HP:0002038), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IRRITABILITY(HP:0000737), CEREBRAL EDEMA(HP:0002181), LETHARGY(HP:0001254), ATAXIA(HP:0001251), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), RESPIRATORY ALKALOSIS(HP:0001950), EPISODIC AMMONIA INTOXICATION(HP:0001951), COMA(HP:0001259), VOMITING(HP:0002013), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508)]
462	SERPINC1	[PULMONARY EMBOLISM(HP:0002204), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEUROLOGICAL ABNORMALITY(HP:0000707), ANTITHROMBIN III DEFICIENCY(HP:0001976), ABNORMALITY OF THE ABDOMEN(HP:0001438), DEEP VENOUS THROMBOSIS(HP:0002625), RECURRENT THROMBOPHLEBITIS(HP:0004419), CEREBRAL VENOUS THROMBOSIS(HP:0005305)]
471	ATIC	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE SKIN(HP:0000951), WIDE MOUTH(HP:0000154), MENTAL RETARDATION, PROFOUND(HP:0002187), CONGENITAL BLINDNESS(HP:0007875), HIGH NASAL BRIDGE(HP:0000442), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), FRONTAL BOSSING(HP:0002007), ATRIAL SEPTAL DEFECT(HP:0001631), CLITOROMEGALY(HP:0000057), FUSED LABIA MINORA(HP:0000063), NARES, ANTEVERTED(HP:0000463), THIN UPPER LIP(HP:0000219), LOW-SET EARS(HP:0000369), METABOLISM ABNORMALITY(HP:0001939), BRACHYCEPHALY(HP:0000248)]
472	ATM	[DELAYED PUBERTY(HP:0000823), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LEUKEMIA(HP:0001909), LYMPHOPENIA(HP:0001888), CONJUNCTIVAL TELANGIECTASIA(HP:0000524), THYMUS HYPOPLASIA(HP:0000778), HAIR ABNORMALITY(HP:0001595), OCULOMOTOR ABNORMALITIES(HP:0006860), DECREASED NUMBER OF CD8+ T CELLS(HP:0005415), REDUCED NUMBER OF T CELLS(HP:0005403), GLUCOSE INTOLERANCE(HP:0000833), WEAK OR ABSENT DEEP TENDON REFLEXES(HP:0001316), IMPAIRED SPERMATOGENESIS(HP:0008669), CAFE-AU-LAIT SPOTS(HP:0000957), DEFECTIVE B CELL DIFFERENTIATION(HP:0005357), HYPOGONADISM, FEMALE(HP:0000134), CEREBELLAR ATAXIA(HP:0001253), SEIZURES(HP:0001250), DYSARTHRIA(HP:0001260), BRONCHIECTASIS(HP:0002110), BRONCHITIS(HP:0002837), CHOREOATHETOSIS(HP:0001266), DECREASED BODY HEIGHT(HP:0004322), REDUCED IGA LEVELS(HP:0008350), REDUCED IGG LEVELS, PARTICULARLY THE IGG2 SUBCLASS(HP:0008348), ELEVATED ALPHA-FETOPROTEIN(HP:0006254), SINUSITIS(HP:0000246), STRABISMUS(HP:0000486)]
477	ATP1A2	[REDUCED PENETRANCE(HP:0003830), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), TETRAPLEGIA(HP:0002445), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MIGRAINE WITH AURA(HP:0002077), HEARING LOSS, SENSORINEURAL(HP:0000407), APRAXIA(HP:0002186), DROWSINESS(HP:0002329), CEREBRAL EDEMA(HP:0002181), CEREBROVASCULAR ACCIDENT(HP:0002452), DIPLOPIA(HP:0000651), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), HEMIANOPIC BLURRING OF VISION(HP:0001125), COMA(HP:0001259), HEMIPARESIS(HP:0001269), DYSPHASIA(HP:0002357), CHOREOATHETOSIS(HP:0001266), HETEROGENEOUS(HP:0001425), APHASIA(HP:0002381), BLURRED VISION(HP:0000622), CONFUSION(HP:0001289), CEREBELLAR ATAXIA DURING EPISODES(HP:0007214), NYSTAGMUS(HP:0000639), HEMIPLEGIA(HP:0002301), DYSTONIA(HP:0001332), FEVER(HP:0001945), COGNITIVE DECLINE, PROGRESSIVE(HP:0007155)]
478	ATP1A3	[DROOLING(HP:0002307), BRADYKINESIA(HP:0002067), REDUCED PENETRANCE(HP:0003830), HYPOMIMIC FACE(HP:0000338), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TORTICOLLIS(HP:0000473), ANXIETY(HP:0000739), UNSTEADY GAIT(HP:0002317), PARKINSONISM(HP:0001300), EMOTIONAL LABILITY(HP:0000712), MUTISM(HP:0002300), DEPRESSION(HP:0000716), DYSARTHRIA(HP:0001260), POSTURAL INSTABILITY(HP:0002172), DYSTONIA(HP:0001332), DYSPHAGIA(HP:0002015), FEVER(HP:0001945), LATE ONSET(HP:0003584), ONSET IN CHILDHOOD(HP:0003578)]
486	FXYD2	[HYPOMAGNESEMIA(HP:0002917), SEIZURES(HP:0001250), RENAL MAGNESIUM WASTING(HP:0005567), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
487	ATP2A1	[MUSCULAR HYPOTONIA(HP:0001252), METABOLISM ABNORMALITY(HP:0001939), MYALGIA(HP:0003326), MUSCLE CRAMPS(HP:0003394)]
488	ATP2A2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), ABNORMALITY OF THE MOUTH(HP:0000153), SUBUNGUAL HYPERKERATOTIC FRAGMENTS(HP:0008410), DIAPHORESIS(HP:0001064), AGE OF ONSET(HP:0003674), SEIZURES(HP:0001250), PRURITUS(HP:0000989), MENTAL RETARDATION, MILD(HP:0001256), HYPERHIDROSIS(HP:0000975), BIPOLAR AFFECTIVE DISORDER(HP:0007302), LONGITUDINAL RIDGING(HP:0001801)]
501	ALDH7A1	[STATUS EPILEPTICUS(HP:0002133), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SPEECH DELAY(HP:0002117), MYOCLONIC SEIZURES(HP:0002123), RESPIRATORY DISTRESS(HP:0002098), NEONATAL RESPIRATORY DISTRESS(HP:0002643), MUSCULAR HYPOTONIA(HP:0001252), METABOLISM ABNORMALITY(HP:0001939), PRENATAL MOVEMENT ABNORMALITY(HP:0001557), EPILEPSY(HP:0001275)]
525	ATP6V1B1	[KIDNEY STONES(HP:0000787), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RENAL TUBULAR ACIDOSIS(HP:0001947), HEARING LOSS, SENSORINEURAL(HP:0000407)]
538	ATP7A	[BLADDER DIVERTICULA(HP:0000015), DISTAL MUSCLE WEAKNESS(HP:0002460), PELVIC EXOSTOSES(HP:0003276), EMG SHOWS NEUROGENIC ABNORMALITIES(HP:0002178), URETERAL OBSTRUCTION(HP:0006000), JOINT LAXITY(HP:0001388), NARROW CHEST(HP:0000774), PECTUS CARINATUM(HP:0000768), ONSET IN FIRST DECADE(HP:0003582), COARSE HAIR(HP:0002208), LIMITED ELBOW EXTENSION(HP:0001377), LOOSE, REDUNDANT SKIN(HP:0001582), LONG PHILTRUM(HP:0000343), KYPHOSIS(HP:0002808), HIGH FOREHEAD(HP:0000348), PERSISTENT OPEN ANTERIOR FONTANELLE(HP:0004474), LIMITED KNEE EXTENSION(HP:0003066), SHORT, BROAD CLAVICLES(HP:0006651), LONG, THIN FACE(HP:0000334), LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS(HP:0003483), SHORT HUMERI(HP:0003014), HYDRONEPHROSIS(HP:0000126), MILDLY EXTENSIBLE SKIN(HP:0007578), PES PLANUS(HP:0001763), PES CAVUS(HP:0001761), HIATUS HERNIA(HP:0002036), BLADDER CARCINOMA(HP:0002862), HYPOTHERMIA(HP:0002045), GENU VALGUM(HP:0002857), UNSTEADY GAIT(HP:0002317), HIGH-ARCHED PALATE(HP:0000156), OSTEOPOROSIS(HP:0000939), DISTAL AMYOTROPHY(HP:0003693), SPINAL MUSCULAR ATROPHY(HP:0007269), CHRONIC DIARRHEA(HP:0002028), CAPITATE-HAMATE FUSION(HP:0001241), SLOW PROGRESSION(HP:0003677), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), INTRAUTERINE GROWTH RETARDATION(HP:0001511), ORTHOSTATIC HYPOTENSION(HP:0001278), HYPERTONIA(HP:0001276), COXA VALGA(HP:0002673), LONG NECK(HP:0000472), EARLY DEATH(HP:0001432), HYPOPIGMENTATION OF THE SKIN(HP:0001010), DECREASED BODY HEIGHT(HP:0004322), PECTUS EXCAVATUM(HP:0000767), ELONGATED, TORTUOUS CAROTID ARTERIES(HP:0005302), X-LINKED RECESSIVE INHERITANCE(HP:0001419), MILD PLATYSPONDYLY(HP:0002940), WORMIAN BONES(HP:0002645), ECCHYMOSES(HP:0000978), SOFT SKIN(HP:0000977), INTRACRANIAL HEMORRHAGE(HP:0002170), MICROCEPHALY(HP:0000252), BRACHYCEPHALY(HP:0000248), METAPHYSEAL WIDENING WITH SPURS(HP:0005088)]
540	ATP7B	[DROOLING(HP:0002307), OSTEOMALACIA(HP:0002749), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPARATHYROIDISM(HP:0000829), ESOPHAGEAL VARICES(HP:0002040), OSTEOPOROSIS(HP:0000939), CHONDROCALCINOSIS(HP:0000934), KIDNEY STONES(HP:0000787), HEPATIC FAILURE(HP:0001399), DYSARTHRIA(HP:0001260), HEMOLYTIC ANEMIA(HP:0001878), DYSPHAGIA(HP:0002015), CIRRHOSIS(HP:0001394), JOINT HYPERMOBILITY(HP:0001382), ABNORMALITY OF THE EYES(HP:0000478), PERSONALITY CHANGES(HP:0000751), PROTEINURIA(HP:0000093), GLYCOSURIA(HP:0003076), HEPATOMEGALY(HP:0002240), TREMOR(HP:0001337), DYSTONIA(HP:0001332), MIXED DEMYELINATING AND AXONAL POLYNEUROPATHY(HP:0007327), HYPERCALCIURIA(HP:0002150), AMINOACIDURIA(HP:0002903), RENAL TUBULAR DYSFUNCTION(HP:0000124), POOR MOTOR COORDINATION(HP:0002275), DEMENTIA(HP:0000726), HYPERPHOSPHATURIA(HP:0003109), OSTEOARTHRITIS(HP:0002758)]
545	ATR	[DELAYED SKELETAL MATURATION(HP:0002750), ELBOW CONTRACTURES(HP:0002987), LARGE BASAL GANGLIA(HP:0007048), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CRYPTORCHIDISM(HP:0000028), TALIPES(HP:0001883), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), HYPOSPADIAS(HP:0000047), PANCYTOPENIA(HP:0001876), CLITOROMEGALY(HP:0000057), GAP BETWEEN FIRST AND SECOND TOES(HP:0001852), SLOPING FOREHEAD(HP:0000340), PACHYGYRIA(HP:0001302), FACIAL ASYMMETRY(HP:0000324), SELECTIVE TOOTH AGENESIS(HP:0001592), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), 11 PAIRS OF RIBS(HP:0000878), LOW-SET EARS(HP:0000369), BLEPHAROPHIMOSIS(HP:0000581), SHORT STATURE, PROPORTIONATE(HP:0003499), CEREBELLAR VERMIS HYPOPLASIA(HP:0001320), PES PLANUS(HP:0001763), HYPOPLASIA OF PROXIMAL RADIUS(HP:0006434), TRANSVERSE PALMAR CREASES(HP:0000954), DENTAL OVERCROWDING(HP:0000678), HYPOPLASIA OF PROXIMAL FIBULA(HP:0006442), HIGH-ARCHED PALATE(HP:0000156), CLEFT PALATE(HP:0000175), BEAKED NOSE(HP:0000444), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DISLOCATED HIPS(HP:0002827), ABNORMAL FINGER FLEXION CREASES(HP:0006143), PRENATAL GROWTH DEFICIENCY(HP:0001515), CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230), DISLOCATED RADIAL HEAD(HP:0003083), HYPERACTIVITY(HP:0000752), MICROGNATHIA(HP:0000210), PROMINENT NOSE(HP:0000448), SMALL ANTERIOR FONTANELLE(HP:0000237), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486)]
546	ATRX	[DELAYED SKELETAL MATURATION(HP:0002750), KYPHOSCOLIOSIS(HP:0002751), VARIABLE PHENOTYPE(HP:0003813), CRYPTORCHIDISM(HP:0000028), SCROTAL HYPOPLASIA(HP:0000046), HYPOSPADIAS(HP:0000047), SHAWL SCROTUM(HP:0000049), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), MICROPENIS(HP:0000054), ABSENT FRONTAL SINUSES(HP:0002688), VESICOURETERAL REFLUX(HP:0000076), RENAL HYPOPLASIA(HP:0000089), EXOTROPIA(HP:0000577), UPSLANTING PALPEBRAL FISSURES(HP:0000582), UMBILICAL HERNIA(HP:0001537), RENAL AGENESIS(HP:0000104), WIDELY-SPACED UPPER INCISORS(HP:0001566), DECREASED TESTICULAR SIZE(HP:0008734), HYDRONEPHROSIS(HP:0000126), PES PLANUS(HP:0001763), SLENDER, TAPERING FINGERS(HP:0006098), TALIPES EQUINOVARUS(HP:0001762), HYPOGONADISM(HP:0000135), HIGH-ARCHED PALATE(HP:0000156), MACROGLOSSIA(HP:0000158), INFANTILE MUSCULAR HYPOTONIA(HP:0008947), CEREBRAL ATROPHY(HP:0002059), FULL LIPS(HP:0000170), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), 'CARP-LIKE' MOUTH(HP:0000186), PROMINENT LOWER LIP(HP:0000179), HYPERTONIA(HP:0001276), MACROSTOMIA(HP:0000181), COXA VALGA(HP:0002673), CLINODACTYLY OF HANDS(HP:0001157), BRACHYDACTYLY(HP:0001156), PAROXYSMAL BURSTS OF LAUGHTER(HP:0000749), OPEN MOUTH(HP:0000194), HYPERACTIVITY(HP:0000752), MICROGNATHIA(HP:0000210), MICROCEPHALY(HP:0000252), MALAR HYPOPLASIA(HP:0000272), COARSE FACIAL FEATURES(HP:0000280), EPICANTHUS(HP:0000286), HYPERREFLEXIA(HP:0001347), DOLICHOCEPHALY(HP:0000268), DELAYED DEVELOPMENTAL MILESTONES(HP:0002473), TALIPES CALCANEOVALGUS(HP:0001884), BITEMPORAL NARROWING(HP:0000314), HYPERTELORISM(HP:0000316), LOW-SET EARS(HP:0000369), POSTERIORLY ROTATED EARS(HP:0000358), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), DROOLING(HP:0002307), SMALL EARS(HP:0000409), GENU VALGUM(HP:0002857), HEARING LOSS, SENSORINEURAL(HP:0000407), CONSTIPATION(HP:0002019), GASTROESOPHAGEAL REFLUX(HP:0002020), VOMITING(HP:0002013), FLAT, BROAD NASAL BRIDGE(HP:0000439), LOW NASAL BRIDGE(HP:0000428), GASTROINTESTINAL REFLUX(HP:0004793), OBESITY(HP:0001513), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), NARES, ANTEVERTED(HP:0000463), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HEMIVERTEBRAE(HP:0002937), TRIANGULAR NASAL TIP(HP:0000451), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), MILD HYPOCHROMIC MICROCYTIC ANEMIA(HP:0004842), METABOLISM ABNORMALITY(HP:0001939), SMALL TRIANGULAR NOSE(HP:0005270)]
549	AUH	[ATHETOSIS(HP:0002305), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HIGHLY VARIABLE PHENOTYPE(HP:0003815), URINARY INCONTINENCE(HP:0000020), HYPERREFLEXIA(HP:0001347), CEREBELLAR ATAXIA(HP:0001253), OPTIC ATROPHY(HP:0000648), DYSARTHRIA(HP:0001260), FAILURE TO THRIVE(HP:0001508), LEUKOENCEPHALOPATHY(HP:0002352), ONSET IN ADULTHOOD(HP:0003581), ONSET IN INFANCY(HP:0003576), HYPOKINESIA(HP:0002375), SPASTIC TETRAPLEGIA(HP:0002510), FEBRILE SEIZURES(HP:0002373), COGNITIVE IMPAIRMENT(HP:0002128), SHORT ATTENTION SPAN(HP:0000736), SPEECH DELAY(HP:0002117), METABOLIC ACIDOSIS(HP:0001942), DYSTONIA(HP:0001332), CEREBRAL ATROPHY, PROGRESSIVE(HP:0002422)]
551	AVP	[LONG PHILTRUM(HP:0000343), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), OSTEOPENIA(HP:0000938), METABOLISM ABNORMALITY(HP:0001939), CENTRAL DIABETES INSIPIDUS(HP:0000863), HYPERTELORISM(HP:0000316), SHORT, BROAD NOSE(HP:0000438)]
554	AVPR2	[IRRITABILITY(HP:0000737), HYPERNATREMIA(HP:0003228), DECREASED BODY HEIGHT(HP:0004322), SYSTOLIC HYPERTENSION, MILD(HP:0004956), POLYDIPSIA(HP:0001959), CONSTIPATION(HP:0002019), UNEXPLAINED FEVERS(HP:0001955), FEEDING DIFFICULTIES(HP:0002022), X-LINKED RECESSIVE INHERITANCE(HP:0001419), ONSET IN FIRST WEEKS OF LIFE(HP:0003622), POLYURIA(HP:0000103), INCREASED URINARY SODIUM(HP:0003608), SEIZURES(HP:0001250), LOW PLASMA RENIN ACTIVITY(HP:0003263), VOMITING(HP:0002013), LOWER URINARY TRACT DILATATION MAY OCCUR OVER TIME(HP:0002838), HYPERTONIC DEHYDRATION(HP:0001986), FAILURE TO THRIVE(HP:0001508), HYPONATREMIA(HP:0002902), MENTAL RETARDATION CAN OCCUR IN PATIENTS WITH REPEATED EPISODES OF DEHYDRATION(HP:0002482)]
567	B2M	[GENU VARUS(HP:0003052), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BOWING OF THE LEGS(HP:0002979), SHORT ULNA(HP:0002998), HYPOPROTEINEMIA(HP:0003075), DECREASED SERUM IGG(HP:0008340), GENU VARUM(HP:0002970)]
582	BBS1	[HYPERTENSION(HP:0000822), DIABETES MELLITUS(HP:0000819), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), CATARACT(HP:0000518), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), ABNORMALITY OF THE KIDNEYS(HP:0000077), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), LEARNING DISABILITY(HP:0001328), BILIARY TRACT ABNORMALITY(HP:0001080), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), HYPOGONADISM(HP:0000135), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), OBESITY(HP:0001513), CLINODACTYLY OF HANDS(HP:0001157), POOR COORDINATION(HP:0002370), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), HIRSUTISM(HP:0001007), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
583	BBS2	[HYPERTENSION(HP:0000822), DIABETES MELLITUS(HP:0000819), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), CATARACT(HP:0000518), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), ABNORMALITY OF THE KIDNEYS(HP:0000077), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), LEARNING DISABILITY(HP:0001328), BILIARY TRACT ABNORMALITY(HP:0001080), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), HYPOGONADISM(HP:0000135), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), OBESITY(HP:0001513), CLINODACTYLY OF HANDS(HP:0001157), POOR COORDINATION(HP:0002370), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), HIRSUTISM(HP:0001007), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
585	BBS4	[HYPERTENSION(HP:0000822), DIABETES MELLITUS(HP:0000819), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), CATARACT(HP:0000518), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), ABNORMALITY OF THE KIDNEYS(HP:0000077), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), LEARNING DISABILITY(HP:0001328), BILIARY TRACT ABNORMALITY(HP:0001080), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), HYPOGONADISM(HP:0000135), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), OBESITY(HP:0001513), CLINODACTYLY OF HANDS(HP:0001157), POOR COORDINATION(HP:0002370), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), HIRSUTISM(HP:0001007), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
590	BCHE	[HYPOKINESIA(HP:0002375), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RESPIRATORY ARREST(HP:0005943), APNEA(HP:0002104)]
593	BCKDHA	[MENTAL RETARDATION IF UNTREATED(HP:0003767), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HALLUCINATIONS(HP:0000738), ELEVATED PLASMA BRANCHED CHAIN AMINO ACIDS(HP:0008344), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL EDEMA(HP:0002181), LETHARGY(HP:0001254), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PANCREATITIS(HP:0001733), SEIZURES(HP:0001250), COMA(HP:0001259), KETOSIS(HP:0001946), VOMITING(HP:0002013), GROWTH ABNORMALITY(HP:0001507), HYPERTONIA(HP:0001276)]
594	BCKDHB	[MENTAL RETARDATION IF UNTREATED(HP:0003767), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HALLUCINATIONS(HP:0000738), ELEVATED PLASMA BRANCHED CHAIN AMINO ACIDS(HP:0008344), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL EDEMA(HP:0002181), LETHARGY(HP:0001254), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PANCREATITIS(HP:0001733), SEIZURES(HP:0001250), COMA(HP:0001259), KETOSIS(HP:0001946), VOMITING(HP:0002013), GROWTH ABNORMALITY(HP:0001507), HYPERTONIA(HP:0001276)]
595	CCND1	[HYPERTENSION(HP:0000822), METABOLISM ABNORMALITY(HP:0001939), PAPILLARY CYSTADENOMA OF THE EPIDIDYMIS(HP:0009715), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SPINAL HEMANGIOBLASTOMA(HP:0009713), RENAL CELL CARCINOMA(HP:0005584), PANCREATIC CYSTS(HP:0001737), MULTIPLE RENAL CYSTS(HP:0005562), NEOPLASIA OF THE PANCREAS(HP:0002894), ABNORMALITY OF THE LIVER(HP:0001392), PARATHYROID ADENOMA(HP:0002897), ERYTHROCYTOSIS(HP:0001901), RETINAL HEMANGIOBLASTOMA(HP:0009711), PHEOCHROMOCYTOMA(HP:0002666), PULMONARY CAPILLARY HEMANGIOMATOSIS(HP:0005954), HEMANGIOBLASTOMA, SPORADIC CEREBELLAR(HP:0006761), CEREBELLAR HEMANGIOBLASTOMA(HP:0006880)]
596	BCL2	[METABOLISM ABNORMALITY(HP:0001939), SOMATIC MUTATION(HP:0001428), LYMPHOMA(HP:0002665), CHRONIC LYMPHATIC LEUKEMIA(HP:0005550)]
602	BCL3	[CHRONIC LYMPHATIC LEUKEMIA(HP:0005550)]
611	OPN1SW	[ABNORMAL ELECTRORETINOGRAM(HP:0000512), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
613	BCR	[METABOLISM ABNORMALITY(HP:0001939), SOMATIC MUTATION(HP:0001428), CHRONIC MYELOGENOUS LEUKEMIA(HP:0005506), PH-POSITIVE ACUTE LYMPHOBLASTIC LEUKEMIA(HP:0004848)]
617	BCS1L	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), MITOCHONDRIAL ENCEPHALOPATHY(HP:0006789), EXERCISE INTOLERANCE(HP:0003546), CATARACT(HP:0000518), CHOLESTASIS(HP:0001396), INCREASED CSF LACTATE(HP:0002490), DECREASED COMPLEX III ACTIVITY IN LIVER TISSUE(HP:0006558), COARSE HAIR(HP:0002208), GONADOTROPIN DEFICIENCY(HP:0008192), ABNORMALITY OF THE URINARY TRACT(HP:0000079), RHABDOMYOLYSIS(HP:0003201), RAGGED-RED MUSCLE FIBERS(HP:0003200), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), ALOPECIA(HP:0001596), NYSTAGMUS(HP:0000639), ISOLATED HYPOGONADOTROPIC HYPOGONADISM(HP:0008224), PIGMENTARY RETINOPATHY(HP:0000580), DYSTONIA(HP:0001332), MUSCLE WEAKNESS(HP:0001324), OPHTHALMOPLEGIA(HP:0000602), DEAFNESS(HP:0000404), FEEDING DIFFICULTIES(HP:0002022), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), PROGRESSIVE DISORDER(HP:0003676), DEVELOPMENTAL RETARDATION(HP:0001263), SPASTICITY(HP:0001257), EEG ABNORMALITIES(HP:0002353), FAILURE TO THRIVE(HP:0001508), CEREBELLAR ATROPHY(HP:0001272), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), HALLUCINATIONS(HP:0000738), HAIR SHAFTS FLATTENED AT IRREGULAR INTERVALS AND TWISTED THROUGH 180 DEGREES ABOUT THEIR AXES(HP:0003329), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), DECREASED LIVER FUNCTION(HP:0001410), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), MICROVESICULAR STEATOSIS(HP:0001414), HYPERTRICHOSIS(HP:0000998), METABOLIC ACIDOSIS(HP:0001942), EMOTIONAL LABILITY(HP:0000712), HYPOGLYCEMIA(HP:0001943), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), RETINITIS PIGMENTOSA(HP:0000510), LACTIC ACIDEMIA(HP:0003128), DEPRESSION(HP:0000716), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), INCREASED SERUM LACTATE(HP:0002151), COAGULOPATHY(HP:0001925), AMINOACIDURIA(HP:0002903), DEMYELINATION(HP:0003381)]
627	BDNF	[ABNORMALITY OF THE MOUTH(HP:0000153), CONGENITAL MEGACOLON(HP:0002251), LOW-SET EARS(HP:0000369), NEUROLOGICAL ABNORMALITY(HP:0000707), POSTERIORLY ROTATED EARS(HP:0000358), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626)]
641	BLM	[NARROW FACE(HP:0000275), NONINSULIN-DEPENDENT DIABETES MELLITUS(HP:0005978), MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LEUKEMIA(HP:0001909), AZOOSPERMIA(HP:0000027), CRYPTORCHIDISM(HP:0000028), DOLICHOCEPHALY(HP:0000268), DECREASED IGA(HP:0002720), CHRONIC LUNG DISEASE(HP:0006528), HIGH PITCHED VOICE(HP:0001620), TENDENCY TO CHROMOSOMAL BREAKAGE(HP:0003220), DECREASED FERTILITY IN FEMALES(HP:0000868), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), LEARNING DISABILITY(HP:0001328), CAFE-AU-LAIT SPOTS(HP:0000957), PROMINENT EARS(HP:0000412), SQUAMOUS CELL CARCINOMA(HP:0002860), ABSENT UPPER LATERAL INCISORS(HP:0000690), SPOTTY HYPOPIGMENTATION(HP:0005590), SPOTTY HYPERPIGMENTATION(HP:0005585), FACIAL TELANGIECTASIA IN BUTTERFLY MIDFACE DISTRIBUTION(HP:0005598), BRONCHIECTASIS(HP:0002110), MENTAL RETARDATION, MILD(HP:0001256), GROWTH FAILURE(HP:0001517), PRENATAL GROWTH DEFICIENCY(HP:0001515), SYNDACTYLY(HP:0001159), POLYDACTYLY (HANDS)(HP:0001161), PHOTOSENSITIVITY(HP:0000992), LYMPHOMA(HP:0002665), HYPERTRICHOSIS(HP:0000998), PROMINENT NOSE(HP:0000448), MICROCEPHALY(HP:0000252)]
652	BMP4	[HYPOTHYROIDISM(HP:0000821), SMALL EARS(HP:0000409), MALAR HYPOPLASIA(HP:0000272), RETROGNATHIA(HP:0000278), TRANSVERSE PALMAR CREASES(HP:0000954), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TOE SYNDACTYLY(HP:0001770), LARGE EARS(HP:0000400), HYPOPITUITARISM(HP:0000830), CRANIOSYNOSTOSIS(HP:0001363), PLAGIOCEPHALY(HP:0001357), HIGH-ARCHED PALATE(HP:0000156), ANOPHTHALMIA, CLINICAL(HP:0001485), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), PSYCHOMOTOR RETARDATION(HP:0001255), ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925), CLEFT PALATE(HP:0000175), HYPOSPADIAS(HP:0000047), SEVERE MUSCULAR HYPOTONIA(HP:0006829), BIFID SCROTUM(HP:0000048), MICROPENIS(HP:0000054), CLEFT LIP(HP:0000204), CLINODACTYLY OF HANDS(HP:0001157), HIGH FOREHEAD(HP:0000348), BIFID UVULA(HP:0000193), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), FACIAL ASYMMETRY(HP:0000324), PREAXIAL POLYDACTYLY (HANDS)(HP:0001177), CEREBRAL CORTICAL ATROPHY(HP:0002120), RENAL HYPOPLASIA(HP:0000089), MICROGNATHIA(HP:0000210), LOW-SET EARS(HP:0000369), SMALL TONGUE(HP:0000226), ADRENAL HYPOPLASIA(HP:0000835), POSTERIORLY ROTATED EARS(HP:0000358), BRACHYCEPHALY(HP:0000248)]
657	BMPR1A	[RECTAL PROLAPSE(HP:0002035), CLUBBING(HP:0001217), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RECTAL BLEEDING(HP:0002609), ANEMIA(HP:0001903), COLON CANCER(HP:0003003), HYPOALBUMINEMIA(HP:0003073), ABDOMINAL PAIN(HP:0002027), INTUSSUSCEPTION(HP:0002576), DIARRHEA(HP:0002014), FAILURE TO THRIVE(HP:0001508), HYPOKALEMIA(HP:0002900)]
658	BMPR1B	[FIBULAR APLASIA(HP:0002990), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPLASTIC UTERUS(HP:0000013), SHORT ULNA(HP:0002998), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), PRIMARY AMENORRHEA(HP:0000786), BRACKET EPIPHYSIS OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009514), APLASIA/HYPOPLASIA INVOLVING THE METACARPAL BONES(HP:0005914), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), HYPOPLASTIC/SMALL 2ND FINGER(HP:0009536), SHORT, BROAD LATERALLY DEVIATED HALLUCES(HP:0004700), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), MEDIALLY DEVIATED SECOND TOE(HP:0008096), SHORT FEMORAL NECK(HP:0003032), TRIANGULAR SHAPED MIDDLE PHALANX OF THE 2ND FINGER(HP:0009575), APLASIA/HYPOPLASIA OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009568), TALIPES EQUINOVARUS(HP:0001762), BRACKET EPIPHYSIS OF THE MIDDLE PHALANX OF THE 5TH FINGER(HP:0009204), TYPE A BRACHYDACTYLY(HP:0009370), TRIANGULAR SHAPED MIDDLE PHALANX OF THE 5TH FINGER(HP:0009182), APLASIA/HYPOPLASIA OF THE MIDDLE PHALANX OF THE 5TH FINGER(HP:0009161), WIDENED PROXIMAL TIBIAL METAPHYSES(HP:0005028), APLASIA OF THE PROXIMAL PHALANGES OF THE HAND(HP:0010242), SHORT LIMB DWARFISM, DISPROPORTIONATE(HP:0008881), APLASIA/HYPOPLASIA OF THE MIDDLE PHALANGES OF THE TOES(HP:0010194), SYNOSTOSIS INVOLVING THE CARPAL BONES(HP:0009702), SEVERE BRACHYDACTYLY(HP:0001201), SYNOSTOSIS INVOLVING TARSAL BONES(HP:0008368), RADIAL DEVIATION OF THE 2ND FINGER(HP:0009467)]
659	BMPR2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RIGHT VENTRICULAR FAILURE(HP:0001708), THROMBOSIS(HP:0001977), PULMONARY VENOOCCLUSIVE DISEASE(HP:0006518), ELEVATED RIGHT ATRIAL PRESSURE(HP:0005168), PULMONARY ARTERY VASOCONSTRICTION(HP:0005308), INCREASED PULMONARY VASCULAR RESISTANCE(HP:0005317), ARTERIES SHOW INTIMAL FIBROSIS(HP:0005312), METABOLISM ABNORMALITY(HP:0001939), RIGHT VENTRICULAR HYPERTROPHY(HP:0001667), ARTERIES SHOW MEDIAL HYPERTROPHY(HP:0004964), DYSPNEA(HP:0002094), PULMONARY HYPERTENSION(HP:0002092)]
668	FOXL2	[AMENORRHEA(HP:0000141), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HIGH-ARCHED PALATE(HP:0000156), SIMPLE EARS(HP:0000390), MICROPHTHALMOS(HP:0000568), FLAT, BROAD NASAL BRIDGE(HP:0000439), ABNORMALITY OF THE BREASTS(HP:0000769), HYPERMETROPIA(HP:0000540), EPICANTHUS INVERSUS(HP:0000537), PREMATURE OVARIAN FAILURE(HP:0008209), HAIR ABNORMALITY(HP:0001595), NYSTAGMUS(HP:0000639), FEMALE INFERTILITY(HP:0008222), PTOSIS(HP:0000508), BLEPHAROPHIMOSIS(HP:0000581), TELECANTHUS(HP:0000506), MENSTRUAL IRREGULARITIES(HP:0000858), CUP-SHAPED EARS(HP:0000378), ELEVATED GONADOTROPINS(HP:0000837), STRABISMUS(HP:0000486), MICROCORNEA(HP:0000482)]
669	BPGM	[JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NORMOCYTIC ANEMIA(HP:0001897), NORMOCHROMIC ANEMIA(HP:0001895), METABOLISM ABNORMALITY(HP:0001939), SPLENOMEGALY(HP:0001744), CHOLECYSTITIS(HP:0001082), CHOLELITHIASIS(HP:0001081), NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930)]
673	BRAF	[PULMONIC STENOSIS(HP:0001642), DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), OPTIC NERVE DYSPLASIA(HP:0001093), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), SLOW-GROWING HAIR(HP:0002217), ATRIAL SEPTAL DEFECT(HP:0001631), PREMATURE BIRTH(HP:0001622), CAVERNOUS HEMANGIOMA(HP:0001048), NYSTAGMUS(HP:0000639), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), ABSENT EYEBROWS AND EYELASHES(HP:0002288), POLYHYDRAMNIOS(HP:0001561), MULTIPLE PLANTAR CREASES(HP:0008113), HYDRONEPHROSIS(HP:0000126), SEVERE ATOPIC DERMATITIS(HP:0007533), HIGH-ARCHED PALATE(HP:0000156), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), EXOPHTHALMOS(HP:0000645), ABNORMALITY OF THE TEETH(HP:0000164), SPLENOMEGALY(HP:0001744), MULTIPLE PALMAR CREASES(HP:0006114), RESPIRATORY ABNORMALITY(HP:0002086), RELATIVE MACROCEPHALY(HP:0004482), HYPERTONIA(HP:0001276), SUBMUCOUS CLEFT PALATE(HP:0000176), OCULOMOTOR APRAXIA(HP:0000657), CLINODACTYLY OF HANDS(HP:0001157), ALVEOLAR CELL CARCINOMA(HP:0006519), PECTUS EXCAVATUM(HP:0000767), CEREBRAL CORTICAL ATROPHY(HP:0002120), MICROGNATHIA(HP:0000210), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), HYPEREXTENSIBILITY OF THE FINGER JOINTS(HP:0001187), HYDROCEPHALUS(HP:0000238), ONSET IN UTERO OR AT BIRTH(HP:0003601), COARSE FACIAL FEATURES(HP:0000280), EPICANTHUS(HP:0000286), DOLICHOCEPHALY(HP:0000268), PROMINENT PHILTRUM(HP:0000305), BITEMPORAL NARROWING(HP:0000314), HYPERTELORISM(HP:0000316), PECTUS CARINATUM(HP:0000768), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), HYPOPLASTIC FRONTAL LOBES(HP:0007333), POSTERIORLY ROTATED EARS(HP:0000358), HEARING LOSS(HP:0000365), ICHTHYOSIS(HP:0000955), CONSTIPATION(HP:0002019), GASTROESOPHAGEAL REFLUX(HP:0002020), OSTEOPENIA(HP:0000938), FEEDING DIFFICULTIES(HP:0002022), SHORT, UPTURNED NOSE(HP:0000441), BULBOUS NASAL TIP(HP:0000443), FRONTAL BOSSING(HP:0002007), VOMITING(HP:0002013), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), SHALLOW ORBITAL RIDGES(HP:0005337), DECREASED BODY HEIGHT(HP:0004322), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), HYPERKERATOSIS(HP:0000962), STRABISMUS(HP:0000486)]
675	BRCA2	[EARLY ONSET(HP:0003593), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SOMATIC MUTATION(HP:0001428), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667)]
686	BTD	[METABOLIC KETOACIDOSIS(HP:0005979), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), DIFFUSE CEREBELLAR ATROPHY(HP:0006928), FEEDING DIFFICULTIES(HP:0002022), VISUAL LOSS(HP:0000572), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), DEVELOPMENTAL RETARDATION(HP:0001263), APNEA(HP:0002104), DIARRHEA(HP:0002014), VOMITING(HP:0002013), SPLENOMEGALY(HP:0001744), ORGANIC ACIDURIA(HP:0001992), RECURRENT SKIN INFECTIONS(HP:0001581), MILD HYPERAMMONEMIA(HP:0008334), DIFFUSE CEREBRAL ATROPHY(HP:0002506), SEBORRHEIC DERMATITIS(HP:0001051), ALOPECIA(HP:0001596), HEPATOMEGALY(HP:0002240), TACHYPNEA(HP:0002789), CONJUNCTIVITIS(HP:0000509), SKIN RASH(HP:0000988)]
695	BTK	[DELAYED SKELETAL MATURATION(HP:0002750), SEVERE ENTEROVIRAL INFECTIONS(HP:0002743), SMALL LYMPH NODES(HP:0002732), PROSTATITIS(HP:0000024), EPIDIDYMITIS(HP:0000031), RECURRENT BACTERIAL INFECTIONS(HP:0002718), SUSCEPTIBILITY TO INFECTION(HP:0002964), DELAYED SPEECH ACQUISITION(HP:0002498), URINARY TRACT INFECTIONS(HP:0000094), MENINGITIS(HP:0001287), ENTEROVIRAL DERMATOMYOSITIS SYNDROME(HP:0003729), ISOLATED GROWTH HORMONE DEFICIENCY(HP:0000861), HEARING LOSS(HP:0000365), CHRONIC OTITIS MEDIA(HP:0000389), PANHYPOGAMMAGLOBULINEMIA(HP:0003139), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), DIARRHEA(HP:0002014), PNEUMONIA(HP:0002090), ABSENT OR SEVERELY REDUCED LEVELS OF SERUM IMMUNOGLOBULINS(HP:0008328), ENCEPHALITIS(HP:0002383), DECREASED BODY HEIGHT(HP:0004322), SEPTIC ARTHRITIS(HP:0003095), ENTEROVIRAL HEPATITIS(HP:0001412), X-LINKED RECESSIVE INHERITANCE(HP:0001419), NEOPLASIA(HP:0002664), PYODERMA(HP:0000999), CONJUNCTIVITIS(HP:0000509), SINUSITIS(HP:0000246)]
701	BUB1B	[MALAR HYPOPLASIA(HP:0000272), POSTERIOR FOSSA MALFORMATIONS(HP:0006809), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LEUKEMIA(HP:0001909), EPICANTHUS(HP:0000286), MENTAL RETARDATION, PROFOUND(HP:0002187), VARIABLE PHENOTYPE(HP:0003813), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), HYPERTELORISM(HP:0000316), HYPOSPADIAS(HP:0000047), BIFID SCROTUM(HP:0000048), MICROPENIS(HP:0000054), AMBIGUOUS GENITALIA(HP:0000062), LONG PHILTRUM(HP:0000343), DANDY-WALKER MALFORMATION(HP:0001305), HIGH FOREHEAD(HP:0000348), GENERALIZED HYPOTONIA(HP:0001290), HYPODYSPLASIA OF THE CORPUS CALLOSUM(HP:0006849), NYSTAGMUS(HP:0000639), SHORT STERNUM(HP:0000879), LOW-SET EARS(HP:0000369), UPSLANTING PALPEBRAL FISSURES(HP:0000582), RENAL CYSTS(HP:0000107), COMBINED IMMUNODEFICIENCY(HP:0005387), CEREBELLAR HYPOPLASIA(HP:0001321), POSTERIORLY ROTATED EARS(HP:0000358), OLIGOHYDRAMNIOS(HP:0001562), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), RHABDOMYOSARCOMA(HP:0002859), FEEDING DIFFICULTIES(HP:0002022), CLEFT PALATE(HP:0000175), DEVELOPMENTAL RETARDATION(HP:0001263), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716), FLATTENED NASAL BRIDGE(HP:0000425), LOW BIRTH WEIGHT(HP:0001518), AGENESIS OF CORPUS CALLOSUM(HP:0001274), TRIANGULAR MOUTH(HP:0000207), TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), NARES, ANTEVERTED(HP:0000463), GROWTH RETARDATION, PRENATAL AND POSTNATAL(HP:0008893), VENTRICULOMEGALY(HP:0002119), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), MICROGNATHIA(HP:0000210), HYDROCEPHALUS(HP:0000238), METABOLISM ABNORMALITY(HP:0001939), UTERINE LEIOMYOSARCOMA(HP:0002891), MICROCEPHALY(HP:0000252), BRACHYCEPHALY(HP:0000248)]
710	SERPING1	[METABOLISM ABNORMALITY(HP:0001939), INTESTINAL EDEMA(HP:0005225), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE LARYNX(HP:0001600), INTEGUMENT ABNORMALITY(HP:0001574), ANXIETY(HP:0000739), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), DIARRHEA(HP:0002014), VOMITING(HP:0002013), AXONAL PERIPHERAL NEUROPATHY(HP:0007169), SYSTEMIC LUPUS ERYTHEMATOSUS(HP:0002725), ABDOMINAL PAIN(HP:0002027)]
712	C1QA	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOIMMUNE DISEASE(HP:0002960)]
715	C1R	[METABOLISM ABNORMALITY(HP:0001939), RHEUMATOID ARTHRITIS(HP:0001370), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ARTHRALGIA(HP:0002829), DISCOID LUPUS ERYTHEMATOSUS(HP:0007417), GENITOURINARY ABNORMALITY(HP:0000119), RESPIRATORY ABNORMALITY(HP:0002086), AUTOIMMUNE DISEASE(HP:0002960)]
717	C2	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SYSTEMIC LUPUS ERYTHEMATOSUS(HP:0002725), ABNORMALITY OF THE SKIN(HP:0000951)]
718	C3	[SKIN RASH(HP:0000988), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS(HP:0000793), SUSCEPTIBILITY TO PYOGENIC INFECTION(HP:0005367), PROTEINURIA(HP:0000093)]
720	C4A	[METABOLISM ABNORMALITY(HP:0001939), GLOMERULONEPHRITIS(HP:0000099), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VASCULITIS(HP:0002633), PHOTOSENSITIVITY(HP:0000992), SYSTEMIC LUPUS ERYTHEMATOSUS(HP:0002725)]
727	C5	[METABOLISM ABNORMALITY(HP:0001939), RECURRENT LOCAL AND SYSTEMIC INFECTIONS, ESP GRAM-NEGATIVE(HP:0005395), INTRACTABLE DIARRHEA(HP:0002041), DISCOID LUPUS ERYTHEMATOSUS(HP:0007417), GENERALIZED SEBORRHEIC DERMATITIS(HP:0007569), GROWTH ABNORMALITY(HP:0001507), SYSTEMIC LUPUS ERYTHEMATOSUS(HP:0002725)]
729	C6	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
730	C7	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AUTOIMMUNE DISEASE(HP:0002960)]
731	C8A	[C8 DEFICIENCY(HP:0004434), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EPISODES OF NEISSERIAL INFECTION(HP:0005378), SYSTEMIC LUPUS ERYTHEMATOSUS(HP:0002725), MENINGITIS(HP:0001287)]
732	C8B	[C8 DEFICIENCY(HP:0004434), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RECURRENT NEISSERIAL INFECTIONS(HP:0005430), MENINGITIS(HP:0001287)]
760	CA2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELEVATED SERUM ACID PHOSPHATASE(HP:0003148), ANEMIA(HP:0001903), PERIODIC HYPOKALEMIC PARESIS(HP:0008153), VISUAL LOSS(HP:0000572), DENTAL MALOCCLUSION(HP:0000689), BASAL GANGLIA CALCIFICATION(HP:0002135), HEPATOSPLENOMEGALY(HP:0001433), DECREASED BODY HEIGHT(HP:0004322), EXTRAMEDULLARY HEMATOPOIESIS(HP:0001978), RENAL TUBULAR ACIDOSIS, TYPE I(HP:0008341), CRANIAL HYPEROSTOSIS(HP:0004437), DIAPHYSEAL SCLEROSIS(HP:0003034), HYPOKALEMIA(HP:0002900), VISUAL IMPAIRMENT FROM OPTIC NERVE COMPRESSION(HP:0008495)]
762	CA4	[RETINITIS PIGMENTOSA(HP:0000510), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
773	CACNA1A	[DYSCALCULIA(HP:0002442), INTERICTAL VESTIBULAR DYSFUNCTION(HP:0006917), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PARESTHESIA(HP:0003401), WEAKNESS(HP:0002309), INCOMPLETE PENETRANCE(HP:0003829), PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073), MIGRAINE(HP:0002076), VERTIGO(HP:0002321), ABNORMAL VESTIBULOOCULAR REFLEX(HP:0007670), DROWSINESS(HP:0002329), CEREBROVASCULAR ACCIDENT(HP:0002452), DYSARTHRIA(HP:0001260), HEMIANOPIC BLURRING OF VISION(HP:0001125), COMA(HP:0001259), GAZE-EVOKED NYSTAGMUS(HP:0000640), DYSPHAGIA(HP:0002015), HEMIPARESIS(HP:0001269), DYSPHASIA(HP:0002357), MYOTONIA(HP:0002486), CEREBELLAR ATROPHY(HP:0001272), VISUAL HALLUCINATIONS(HP:0002367), SACCADIC SMOOTH PURSUIT(HP:0001152), HETEROGENEOUS(HP:0001425), ATAXIA, EPISODIC(HP:0002131), BLURRED VISION(HP:0000622), CONFUSION(HP:0001289), AUDITORY HALLUCINATIONS(HP:0008765), ONSET USUALLY IN CHILDHOOD OR ADOLESCENCE(HP:0003620), AGITATION(HP:0000713), ATROPHY OF CEREBELLAR VERMIS(HP:0007312), HEMIPLEGIA(HP:0002301), GENETIC ANTICIPATION(HP:0003743), DYSTONIA(HP:0001332), RESTLESSNESS(HP:0000711), FEVER(HP:0001945), TINNITUS(HP:0000360)]
775	CACNA1C	[SUDDEN DEATH(HP:0001699), SYNDACTYLY(HP:0001159), PROLONGED QT INTERVAL ON EKG(HP:0001657)]
778	CACNA1F	[HETEROGENEOUS(HP:0001425), MYOPIA(HP:0000545), X-LINKED INHERITANCE(HP:0001417), NYSTAGMUS(HP:0000639), FOVEAL HYPOPLASIA(HP:0007750), METABOLISM ABNORMALITY(HP:0001939), SEVERE VISUAL IMPAIRMENT(HP:0001141), CONGENITAL STATIONARY NIGHT BLINDNESS(HP:0007642), ASTIGMATISM(HP:0000483)]
779	CACNA1S	[MYOPATHY(HP:0003198), REDUCED PENETRANCE(HP:0003830), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WEAKNESS(HP:0002309), GENERALIZED MUSCLE WEAKNESS(HP:0003324), PARALYSIS(HP:0003470), VARIABLE PHENOTYPE(HP:0003813), HYPOKALEMIA(HP:0002900), FLACCID WEAKNESS OR PARALYSIS, EPISODIC ATTACKS(HP:0003752)]
783	CACNB2	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEUROLOGICAL ABNORMALITY(HP:0000707)]
788	SLC25A20	[HYPOTENSION(HP:0002615), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CARDIOMYOPATHY(HP:0001638), VENTRICULAR EXTRASYSTOLES(HP:0006682), VENTRICULAR HYPERTROPHY(HP:0001714), BRADYCARDIA(HP:0001662), VENTRICULAR TACHYCARDIA(HP:0004756), HEPATOMEGALY(HP:0002240), HYPOGLYCEMIA(HP:0001943), SEIZURES(HP:0001250), CARDIORESPIRATORY ARREST(HP:0006543), ATRIOVENTRICULAR BLOCK(HP:0001678), HYPERAMMONEMIA(HP:0001987), MUSCLE WEAKNESS(HP:0001324)]
795	S100G	[X-LINKED INHERITANCE(HP:0001417)]
825	CAPN3	[CONTRACTURES(HP:0001371), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SCAPULAR WINGING(HP:0003691), SYMMETRIC PROXIMAL MUSCULAR ATROPHY(HP:0008980), DIFFICULTY WALKING(HP:0002355), INCREASED SERUM CREATINE KINASE(HP:0002147)]
841	CASP8	[HETEROGENEOUS(HP:0001425), SUBACUTE PROGRESSIVE VIRAL HEPATITIS(HP:0006572), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RECURRENT SINOPULMONARY INFECTIONS(HP:0005425), DECREASED BODY HEIGHT(HP:0004322), DECREASED T CELL ACTIVATION(HP:0005419), MICRONODULAR CIRRHOSIS(HP:0001413), LYMPHADENOPATHY(HP:0002716), ASTHMA(HP:0002099), METABOLISM ABNORMALITY(HP:0001939), HEPATOCELLULAR CARCINOMA(HP:0001402), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), DIARRHEA(HP:0002014), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), DEFECTIVE B CELL ACTIVATION(HP:0005384), PNEUMONIA(HP:0002090), ECZEMA(HP:0000964)]
843	CASP10	[INCREASED PROPORTION OF HLA DR+ AND CD57+ T CELLS(HP:0002853), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCREASED NUMBER OF CD4-/CD8- T CELLS EXPRESSING ALPHA/BETA T-CELL RECEPTORS(HP:0002851), AUTOIMMUNE NEUTROPENIA(HP:0001904), DEFECTIVE LYMPHOCYTE APOPTOSIS(HP:0002731), DIRECT COOMBS POSITIVE(HP:0003539), CHRONIC NONINFECTIOUS LYMPHADENOPATHY(HP:0002730), LYMPH NODES SHOW FLORID REACTIVE FOLLICULAR HYPERPLASIA AND MARKED PARACORTICAL EXPANSION WITH IMMUNOBLASTS AND PLASMA CELLS(HP:0002729), AUTOIMMUNE HEMOLYTIC ANEMIA(HP:0001890), IRON DEFICIENCY ANEMIA(HP:0001891), EOSINOPHILIA(HP:0001880), CHRONIC ATROPHIC GASTRITIS(HP:0002582), SPLENOMEGALY(HP:0001744), NEUTROPHIL ANTIBODY POSITIVE(HP:0003453), REDUCED DELAYED HYPERSENSITIVITY(HP:0002972), PLATELET ANTIBODY POSITIVE(HP:0003454), INCREASED NUMBER OF PERIPHERAL CD3+ T CELLS(HP:0002845), ONSET IN INFANCY OR CHILDHOOD(HP:0003583), IMMUNE THROMBOCYTOPENIA(HP:0001973), URTICARIA(HP:0001025), RHEUMATOID FACTOR POSITIVE(HP:0002923), NEOPLASIA(HP:0002664), HEPATOMEGALY(HP:0002240), PHOSPHOLIPID ANTIBODY POSITIVE(HP:0003613), NEPHROTIC SYNDROME(HP:0000100), ANTINUCLEAR ANTIBODY POSITIVE(HP:0003493), INCREASED NUMBER OF B CELLS(HP:0005404), INCREASED IGM LEVEL(HP:0003496), SMOOTH MUSCLE ANTIBODY POSITIVE(HP:0003262), INCREASED IGA LEVEL(HP:0003261), INCREASED IGG LEVEL(HP:0003237), NEPHRITIS(HP:0000123)]
846	CASR	[ELEVATED SERUM PARATHYROID HORMONE (PTH) LEVEL(HP:0003165), HYPERMAGNESEMIA(HP:0002918), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOPARATHYROIDISM(HP:0000829), CONSTIPATION(HP:0002019), POLYDIPSIA(HP:0001959), FEEDING DIFFICULTIES(HP:0002022), ANEMIA(HP:0001903), HYPERCALCEMIA(HP:0003072), HEPATOMEGALY(HP:0002240), TACHYPNEA(HP:0002789), POLYURIA(HP:0000103), CATARACT(HP:0000518), MUSCULAR HYPOTONIA(HP:0001252), PANCREATITIS(HP:0001733), KIDNEY STONES(HP:0000787), SEIZURES(HP:0001250), INTRACEREBRAL CALCIFICATION ON CT SCAN(HP:0005806), HYPOCALCIURIA(HP:0003127), SPLENOMEGALY(HP:0001744), NARROW CHEST(HP:0000774), HYPERCALCIURIA(HP:0002150), FAILURE TO THRIVE(HP:0001508), HYPOPHOSPHATEMIA(HP:0002148), AMINOACIDURIA(HP:0002903), HYPOCALCEMIA(HP:0002901), HYPERPHOSPHATEMIA(HP:0002905), IRREGULAR METAPHYSES(HP:0003025), DYSPNEA(HP:0002094), RECURRENT FRACTURES(HP:0002757), HYPERPHOSPHATURIA(HP:0003109), NEONATAL PRIMARY HYPERPARATHYROIDISM(HP:0008254)]
847	CAT	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
859	CAV3	[MUSCLE CRAMPS WITH EXERCISE(HP:0003710), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), CALF HYPERTROPHY(HP:0003703), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), LIMB-GIRDLE MUSCULAR DYSTROPHY(HP:0006785), MUSCLE HYPERIRRITABILITY(HP:0003559), MUSCULAR DYSTROPHY(HP:0003560), ONSET IN FIRST DECADE(HP:0003582), HETEROGENEOUS(HP:0001425), SUDDEN DEATH(HP:0001699), PERCUSSION-INDUCED RAPID ROLLING MUSCLE CONTRACTIONS (PIRC)(HP:0003760), MEAN AGE OF ONSET 18 YEARS(HP:0003628), MUSCLE ACTIVITY IS ELECTRICALLY SILENT ON EMG(HP:0003753), INCREASED CREATINE KINASE(HP:0003078), ASYMMETRIC SEPTAL HYPERTROPHY(HP:0001670), DECREASED CAVEOLIN-3 EXPRESSION ON MUSCLE BIOPSY(HP:0003735), EXERCISE-INDUCED MYALGIA(HP:0003738), MUSCLE MOUNDING(HP:0003719), EXERCISE-INDUCED MUSCLE STIFFNESS(HP:0008967), MUSCLE HYPERTROPHY(HP:0003712), INCREASED SERUM CREATINE KINASE(HP:0002147), SUBAORTIC STENOSIS(HP:0001682), GOWER SIGN(HP:0003391), ELEVATED SERUM CREATINE PHOSPHOKINASE(HP:0003236)]
860	RUNX2	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NARROW, HIGH-ARCHED PALATE(HP:0009080), HYPOPLASTIC FRONTAL SINUSES(HP:0002738), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), HYPERTELORISM(HP:0000316), NARROW CHEST(HP:0000774), LARGE FORAMEN MAGNUM(HP:0002700), SPONDYLOLISTHESIS(HP:0003302), SHORT RIBS(HP:0000773), DELAYED MINERALIZATION OF PUBIC BONE(HP:0008795), ABSENT PARANASAL SINUSES(HP:0002689), OSTEOSCLEROSIS(HP:0010738), ABSENT FRONTAL SINUSES(HP:0002688), SPONDYLOLYSIS(HP:0003304), KYPHOSIS(HP:0002808), COXA VARA(HP:0002812), CERVICAL RIBS(HP:0000891), ANTERIOR FONTANELLE OPEN IN ADULTS(HP:0004475), DELAYED ERUPTION OF DECIDUOUS TEETH(HP:0000680), SYRINGOMYELIA(HP:0003396), DEAFNESS(HP:0000404), SUPERNUMERARY TEETH(HP:0000672), APLASTIC CLAVICLES(HP:0006660), DELAYED ERUPTION OF SECONDARY TEETH(HP:0000696), HYPOPLASTIC ILIAC WINGS(HP:0002866), RESPIRATORY DISTRESS(HP:0002098), CLEFT PALATE(HP:0000175), FRONTAL BOSSING(HP:0002007), WIDE PUBIC SYMPHYSIS(HP:0003183), SHORT SCAPULAE(HP:0000906), LOW NASAL BRIDGE(HP:0000428), CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230), THICKENED CALVARIA(HP:0002684), LONG SECOND METACARPAL(HP:0006040), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), MICROGNATHIA(HP:0000210), WORMIAN BONES(HP:0002645), SCOLIOSIS(HP:0002650), ABNORMAL FACILITY IN OPPOSING THE SHOULDERS(HP:0005259), PARIETAL BOSSING(HP:0000242), MODERATELY SHORT STATURE(HP:0008848)]
861	RUNX1	[ACUTE MYELOID LEUKEMIA(HP:0004808), MYELODYSPLASIA(HP:0002863), NEUROBLASTOMA(HP:0003006), ABNORMAL PLATELET AGGREGATION(HP:0003540), CHRONIC LYMPHATIC LEUKEMIA(HP:0005550), FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), ACUTE MONOCYTIC LEUKEMIA(HP:0004845), ECCHYMOSES(HP:0000978), PROLONGED BLEEDING TIME(HP:0003010), THROMBOCYTOPENIA(HP:0001873), ONSET BEFORE AGE 2 YEARS(HP:0003667), AUTOSOMAL DOMINANT SOMATIC CELL MUTATION(HP:0001444), EPISTAXIS(HP:0000421)]
866	SERPINA6	[HYPOTENSION(HP:0002615), HYPERTENSION(HP:0000822), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MUSCLE FATIGUE(HP:0003750), VARIABLE PHENOTYPE(HP:0003813)]
875	CBS	[KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), MITRAL VALVE PROLAPSE(HP:0001634), THROMBOEMBOLISM(HP:0001907), MYOCARDIAL INFARCTION(HP:0001658), INGUINAL HERNIA(HP:0000023), CEREBROVASCULAR ACCIDENT(HP:0002452), CODFISH VERTEBRAE(HP:0002952), DECREASED MOBILITY OF JOINTS(HP:0001376), FATTY INFILTRATION OF LIVER(HP:0002252), FINE, BRITTLE HAIR(HP:0002299), ECTOPIA LENTIS(HP:0001083), NORMAL TO TALL STATURE(HP:0003516), DENTAL OVERCROWDING(HP:0000678), HIGH-ARCHED PALATE(HP:0000156), OSTEOPOROSIS(HP:0000939), PANCREATITIS(HP:0001733), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), FAILURE TO THRIVE(HP:0001508), PSYCHIATRIC DISORDERS(HP:0002368), ARACHNODACTYLY(HP:0001166), PECTUS EXCAVATUM(HP:0000767), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), GLAUCOMA(HP:0000501), HOMOCYSTINURIA(HP:0002156)]
889	KRIT1	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCOMPLETE PENETRANCE(HP:0003829), HEADACHE(HP:0002315), ABNORMALITY OF THE SKIN(HP:0000951), SPORADIC(HP:0003745), HEPATIC VASCULAR MALFORMATIONS(HP:0006576), CEREBRAL CALCIFICATION(HP:0002514), SEIZURES(HP:0001250), ABNORMALITY OF MUSCULATURE(HP:0003011), INTRACRANIAL HEMORRHAGE(HP:0002170), RETINAL VASCULAR MALFORMATIONS(HP:0007797)]
916	CD3E	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LYMPHOPENIA(HP:0001888), MODERATELY SEVERE IMMUNODEFICIENCY(HP:0005371)]
917	CD3G	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IMMUNODEFICIENCY(HP:0002721)]
919	CD247	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715), FAILURE TO THRIVE(HP:0001508), RESPIRATORY ABNORMALITY(HP:0002086), MALABSORPTION(HP:0002024), AUTOIMMUNE HEMOLYTIC ANEMIA(HP:0001890), CHRONIC DIARRHEA(HP:0002028)]
920	CD4	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715)]
925	CD8A	[RECURRENT BACTERIAL INFECTIONS(HP:0002718), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BRONCHIECTASIS(HP:0002110), ISOLATED ABSENCE OF CD8+ T CELLS(HP:0005422), RECURRENT VIRAL INFECTIONS(HP:0004429), ONSET AT BIRTH(HP:0003577)]
948	CD36	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ENDOCRINE ABNORMALITY(HP:0000818), THROMBOCYTOPENIA(HP:0001873), VARIABLE BLEEDING TENDENCIES(HP:0008183), GIANT PLATELETS(HP:0001902), PROLONGED BLEEDING TIME 15-TO->30 MINUTES(HP:0008337)]
950	SCARB2	[INFREQUENT GENERALIZED SEIZURES(HP:0007114), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), ATAXIA(HP:0001251), DYSARTHRIA(HP:0001260), NEPHROPATHY(HP:0000112)]
958	CD40	[SERUM IGA, IGG, AND IGE SEVERELY DEFICIENT(HP:0002854), LYMPH NODES LACK GERMINAL CENTERS(HP:0002849), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERACTIVITY(HP:0000752), IMMUNODEFICIENCY(HP:0002721), NEUTROPENIA(HP:0001875), PRIMARY DYSFUNCTION OF B-LYMPHOCYTE ISOTYPE SWITCHING AND MEMORY B-CELL GENERATION(HP:0002847), NORMAL OR INCREASED IGM(HP:0002962), HYPERKINESIS(HP:0002487)]
959	CD40LG	[SERUM IGA, IGG, AND IGE SEVERELY DEFICIENT(HP:0002854), LYMPH NODES LACK GERMINAL CENTERS(HP:0002849), IMMUNODEFICIENCY(HP:0002721), RECURRENT BACTERIAL INFECTIONS(HP:0002718), NEUTROPENIA(HP:0001875), THROMBOCYTOPENIA(HP:0001873), DIARRHEA(HP:0002014), HEMOLYTIC ANEMIA(HP:0001878), SPLENOMEGALY(HP:0001744), PRIMARY DYSFUNCTION OF B-LYMPHOCYTE ISOTYPE SWITCHING AND MEMORY B-CELL GENERATION(HP:0002847), NORMAL OR INCREASED IGM(HP:0002962), HYPERKINESIS(HP:0002487), DYSGAMMAGLOBULINEMIA(HP:0002961), DECREASED T CELL ACTIVATION(HP:0005419), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPERACTIVITY(HP:0000752), HEPATOMEGALY(HP:0002240), GINGIVITIS(HP:0000230)]
984	CDK11B	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
999	CDH1	[CHRONIC ATROPHIC GASTRITIS(HP:0002582), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
1001	CDH3	[WIDELY SPACED TEETH(HP:0000687), SYNDACTYLY(HP:0001159), CAMPTODACTYLY (HANDS)(HP:0010563), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BLINDNESS(HP:0000618), ABNORMALITY OF THE SKIN(HP:0000951), ABNORMALITY OF THE NAILS(HP:0001597), ECTRODACTYLY (HANDS)(HP:0001171), CONGENITAL HYPOTRICHOSIS(HP:0004525), SELECTIVE TOOTH AGENESIS(HP:0001592), MICRODONTIA(HP:0000691), SPARSE EYELASHES(HP:0000653), PILI TORTI(HP:0003777), SPARSE EYEBROWS(HP:0000535), PROGRESSIVE JUVENILE MACULAR DYSTROPHY(HP:0007999), SPARSE SCALP HAIR(HP:0002209)]
1019	CDK4	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MALIGNANT MELANOMA(HP:0002861), ATYPICAL NEVI (>5MM WITH IRREGULAR EDGE AND PIGMENTATION)(HP:0001062), NUMEROUS NEVI(HP:0001054), ATYPICAL NEVI OFTEN PRESENT IN NON-SUN EXPOSED AREAS(HP:0001074), ISOLATED CASES(HP:0001420)]
1027	CDKN1B	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE URINARY TRACT(HP:0000079), PITUITARY ADENOMA(HP:0002893), ACROMEGALY(HP:0000845)]
1028	CDKN1C	[CARDIOMEGALY(HP:0001640), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), COARSE FACIAL FEATURES(HP:0000280), CARDIOMYOPATHY(HP:0001638), MACROGLOSSIA(HP:0000158), CRYPTORCHIDISM(HP:0000028), GONADOBLASTOMA(HP:0000150), PROMINENT OCCIPUT(HP:0000269), HEMIHYPERTROPHY(HP:0001528), ADRENOCORTICAL CYTOMEGALY(HP:0008186), NEONATAL HYPOGLYCEMIA(HP:0001998), PANCREATIC HYPERPLASIA(HP:0006277), ABNORMALITY OF THE EYES(HP:0000478), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), HEPATOMEGALY(HP:0002240), LARGE FONTANELLES(HP:0000239), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), HEPATOBLASTOMA(HP:0002884), DIASTASIS RECTI(HP:0001540), ADRENAL CARCINOMA(HP:0002889), OMPHALOCELE(HP:0001539), ENLARGED KIDNEYS(HP:0000105), ABNORMALITY OF THE EARS(HP:0000598), OVERGROWTH OF EXTERNAL GENITALIA(HP:0003247)]
1029	CDKN2A	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ADRENOCORTICAL CARCINOMA(HP:0006744), MALIGNANT MELANOMA(HP:0002861), NEUROLOGICAL ABNORMALITY(HP:0000707), NEOPLASIA OF THE PANCREAS(HP:0002894), ACUTE LEUKEMIA(HP:0002488), EARLY ONSET(HP:0003593), BREAST CANCER(HP:0003002), COLON CANCER(HP:0003003), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), OSTEOGENIC SARCOMA(HP:0002669)]
1038	CDR1	[IMMUNOLOGICAL ABNORMALITY(HP:0002715), NEUROLOGICAL ABNORMALITY(HP:0000707), X-LINKED INHERITANCE(HP:0001417)]
1041	CDSN	[HYPOTRICHOSIS OF THE SCALP(HP:0004782), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1048	CEACAM5	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
1050	CEBPA	[FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
1053	CEBPE	[MITOCHONDRIAL INHERITANCE(HP:0001427), RECURRENT INFECTIONS(HP:0002719), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF NEUTROPHIL(HP:0001874)]
1055	CECR	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), STENOTIC EXTERNAL AUDITORY CANAL(HP:0000402), PREAURICULAR SKIN TAG(HP:0000384), MICROPHTHALMOS(HP:0000568), CLEFT PALATE(HP:0000175), HYPERTELORISM(HP:0000316), CARDIAC MALFORMATION(HP:0002564), GROWTH ABNORMALITY(HP:0001507), CHOROID COLOBOMA(HP:0000611), TOTAL ANOMALOUS PULMONARY VENOUS RETURN(HP:0005160), IRIS COLOBOMA(HP:0000612), BILIARY DUCT ATRESIA(HP:0005912), PREAURICULAR SINUS(HP:0004467), MICROGNATHIA(HP:0000210), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), LOW-SET EARS(HP:0000369), NEUROLOGICAL ABNORMALITY(HP:0000707), RENAL AGENESIS(HP:0000104), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
1066	CES1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715), NEOPLASIA(HP:0002664)]
1071	CETP	[ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), METABOLISM ABNORMALITY(HP:0001939), NEUROLOGICAL ABNORMALITY(HP:0000707), ABNORMALITY OF THE SKIN(HP:0000951)]
1075	CTSC	[PES PLANUS(HP:0001763), HETEROGENEOUS(HP:0001425), OSTEOLYTIC DEFECTS OF THE PHALANGES OF THE HAND(HP:0009771), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ARACHNODACTYLY(HP:0001166), LOSS OF TEETH(HP:0000701), CONGENITAL PALMOPLANTAR KERATOSIS(HP:0007545), ATROPHY OF ALVEOLAR RIDGES(HP:0006308), TAPERED, POINTED DISTAL PHALANGES(HP:0006224), RECURRENT BACTERIAL SKIN INFECTIONS(HP:0005406), ONYCHOGRYPOSIS(HP:0001819), NEUROLOGICAL ABNORMALITY(HP:0000707), SEVERE PERIODONTITIS(HP:0000166), LATE ONSET(HP:0003584)]
1080	CFTR	[PANCREATIC INSUFFICIENCY(HP:0002581), ASTHMA(HP:0002099), MALE INFERTILITY(HP:0003251), MECONIUM ILEUS(HP:0004401), BILIARY CIRRHOSIS(HP:0002613), HETEROGENEOUS(HP:0001425), RECTAL PROLAPSE(HP:0002035), DISTAL INTESTINAL OBSTRUCTION SYNDROME(HP:0002610), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BRONCHIECTASIS(HP:0002110), DEHYDRATION(HP:0001944), HYPERCALCIURIA(HP:0002150), FAILURE TO THRIVE(HP:0001508), AZOOSPERMIA(HP:0000027), COR PULMONALE(HP:0001648)]
1103	CHAT	[POOR SUCK(HP:0002033), DECREASED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003402), RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GENERALIZED HYPOTONIA DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003397), APNEIC EPISODES PRECIPITATED BY ILLNESS, FATIGUE, STRESS(HP:0002872), RESPIRATORY DISTRESS(HP:0002098), WEAK CRY(HP:0001612), IMMUNOLOGICAL ABNORMALITY(HP:0002715), TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554), DYSPHAGIA(HP:0002015), POOR FEEDING DUE TO MUSCLE WEAKNESS(HP:0002568), MILD-MODERATE FATIGABLE WEAKNESS OF LIMB MUSCLES(HP:0003473), BULBAR PALSY(HP:0001283), PTOSIS(HP:0000508), SUDDEN EPISODIC APNEA, SEVERE, MAY CAUSE DEATH(HP:0002882), OPHTHALMOPARESIS(HP:0000597), ONSET AT BIRTH OR EARLY CHILDHOOD(HP:0003595), STRABISMUS(HP:0000486), ARTHROGRYPOSIS MULTIPLEX IN SEVERE CASES(HP:0002759)]
1121	CHM	[CONSTRICTED VISUAL FIELDS(HP:0001133), CHOROIDAL DEGENERATION(HP:0007945), CHOROIDAL SCLEROSIS(HP:0001150), PROGRESSIVE VISUAL LOSS(HP:0000529), X-LINKED INHERITANCE(HP:0001417), NIGHT BLINDNESS(HP:0000662), CHOROIDEREMIA(HP:0001139)]
1122	CHML	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CHOROIDEREMIA(HP:0001139)]
1130	LYST	[JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANEMIA(HP:0001903), MACULAR HYPOPLASIA(HP:0001104), NEURODEGENERATION(HP:0002180), LYMPHADENOPATHY(HP:0002716), LEUKOPENIA(HP:0001882), MILD/SEVERE SKIN HYPOPIGMENTATION(HP:0005589), SEIZURES(HP:0001250), THROMBOCYTOPENIA(HP:0001873), DECREASED DEEP TENDON REFLEXES(HP:0002467), GIANT MELANOSOMES IN MELANOCYTES(HP:0005592), SPLENOMEGALY(HP:0001744), MENTAL DEFICIENCY(HP:0001267), CRANIAL NERVE PARALYSIS(HP:0006824), PHOTOPHOBIA(HP:0000613), MARKEDLY DELAYED NERVE CONDUCTION VELOCITIES(HP:0007218), RECURRENT CUTANEOUS AND SYSTEMIC PYOGENIC INFECTIONS(HP:0005429), GAIT DISTURBANCE(HP:0001288), PROGRESSIVE PERIPHERAL NEUROPATHY(HP:0007133), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), TREMOR(HP:0001337), IMPAIRED VISION(HP:0000505), GINGIVITIS(HP:0000230), REDUCED IRIS PIGMENTATION(HP:0007730), MUSCLE WEAKNESS(HP:0001324), FOOT DROP(HP:0003377), STRABISMUS(HP:0000486)]
1134	CHRNA1	[POOR SUCK(HP:0002033), JOINT DISLOCATION(HP:0001373), DECREASED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003402), CONTRACTURES(HP:0001371), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LARGE EARS(HP:0000400), MICROBRACHYDACTYLY(HP:0005630), EPICANTHUS(HP:0000286), INTERMITTENT EPISODES OF RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0004889), MALIGNANT HYPERTHERMIA(HP:0002047), HIGH-ARCHED PALATE(HP:0000156), VARIABLE SEVERITY(HP:0003814), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), WEAK CRY(HP:0001612), PROGRESSIVE DISORDER(HP:0003676), TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554), IMMUNOLOGICAL ABNORMALITY(HP:0002715), GENERALIZED MUSCLE WEAKNESS DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003428), DYSARTHRIA(HP:0001260), VERTEBRAL FUSION(HP:0002948), DYSPHAGIA(HP:0002015), HYPERTELORISM(HP:0000316), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), EARLY SEVERE FETAL AKINESIA SEQUENCE(HP:0001989), PULMONARY HYPOPLASIA(HP:0002089), FACIAL DYSMORPHISM(HP:0001999), POOR FEEDING DUE TO MUSCLE WEAKNESS(HP:0002568), MUSCLE BIOPSY SHOWS DECREASED SIZE OF NERVE TERMINALS(HP:0003443), RESPIRATORY INSUFFICIENCY(HP:0002093), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), CYSTIC HYGROMA OF THE NECK(HP:0000476), THIN RIBS(HP:0000883), GENERALIZED AMYOPLASIA(HP:0003634), ABNORMAL CERVICAL CURVATURE(HP:0005905), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), PROLONGED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003479), FLAT NOSE(HP:0000457), MULTIPLE PTERYGIA(HP:0001040), BULBAR PALSY(HP:0001283), VARIABLE AGE AT ONSET(HP:0003618), HYPOPLASTIC HEART(HP:0001961), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), HYDROPS(HP:0000990), LOW-SET EARS(HP:0000369), SCOLIOSIS(HP:0002650), POLYHYDRAMNIOS(HP:0001561), OPHTHALMOPARESIS(HP:0000597), EASY FATIGABILITY(HP:0003388), GOWER SIGN(HP:0003391), ARTHROGRYPOSIS MULTIPLEX IN SEVERE CASES(HP:0002759)]
1137	CHRNA4	[HETEROGENEOUS(HP:0001425), MENTAL RETARDATION(HP:0001249), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PARTIAL SEIZURES(HP:0007359), SEIZURES OCCUR IN CLUSTERS(HP:0002279), EPILEPSY(HP:0001275), ONSET IN CHILDHOOD(HP:0003578), CEREBROVASCULAR ACCIDENT(HP:0002452)]
1140	CHRNB1	[EMG SHOWS DECREMENTAL RESPONSE OF COMPOUND MUSCLE ACTION POTENTIAL (CMAP) TO REPETITIVE NERVE STIMULATION(HP:0003403), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LONG FACE(HP:0000276), MUSCLE CRAMPS(HP:0003394), INTERMITTENT EPISODES OF RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0004889), HIGH-ARCHED PALATE(HP:0000156), VARIABLE SEVERITY(HP:0003814), FEEDING DIFFICULTIES(HP:0002022), NONPROGRESSIVE DISORDER(HP:0003680), DENTAL MALOCCLUSION(HP:0000689), DECREASED MUSCLE MASS(HP:0003199), MUSCULAR HYPOTONIA(HP:0001252), WEAK CRY(HP:0001612), PROGRESSIVE DISORDER(HP:0003676), IMMUNOLOGICAL ABNORMALITY(HP:0002715), TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554), GENERALIZED MUSCLE WEAKNESS DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003428), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), MOTOR RETARDATION(HP:0001270), ONSET IN INFANCY(HP:0003576), MUSCLE BIOPSY SHOWS DECREASED SIZE OF NERVE TERMINALS(HP:0003443), ONSET IN CHILDHOOD(HP:0003578), RESPIRATORY INSUFFICIENCY(HP:0002093), MANDIBULAR PROGNATHIA(HP:0000303), FACIAL MUSCLE WEAKNESS(HP:0010628), PROLONGED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003479), VARIABLE AGE AT ONSET(HP:0003618), PTOSIS(HP:0000508), OPHTHALMOPARESIS(HP:0000597), EASY FATIGABILITY(HP:0003388), GOWER SIGN(HP:0003391), STRABISMUS(HP:0000486), DECREASED FETAL MOVEMENT(HP:0001558), ARTHROGRYPOSIS MULTIPLEX IN SEVERE CASES(HP:0002759)]
1144	CHRND	[POOR SUCK(HP:0002033), JOINT DISLOCATION(HP:0001373), DECREASED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003402), CONTRACTURES(HP:0001371), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LARGE EARS(HP:0000400), MICROBRACHYDACTYLY(HP:0005630), EPICANTHUS(HP:0000286), INTERMITTENT EPISODES OF RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0004889), MALIGNANT HYPERTHERMIA(HP:0002047), HIGH-ARCHED PALATE(HP:0000156), VARIABLE SEVERITY(HP:0003814), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), WEAK CRY(HP:0001612), PROGRESSIVE DISORDER(HP:0003676), TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554), IMMUNOLOGICAL ABNORMALITY(HP:0002715), GENERALIZED MUSCLE WEAKNESS DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003428), DYSARTHRIA(HP:0001260), VERTEBRAL FUSION(HP:0002948), DYSPHAGIA(HP:0002015), HYPERTELORISM(HP:0000316), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), EARLY SEVERE FETAL AKINESIA SEQUENCE(HP:0001989), PULMONARY HYPOPLASIA(HP:0002089), FACIAL DYSMORPHISM(HP:0001999), POOR FEEDING DUE TO MUSCLE WEAKNESS(HP:0002568), MUSCLE BIOPSY SHOWS DECREASED SIZE OF NERVE TERMINALS(HP:0003443), RESPIRATORY INSUFFICIENCY(HP:0002093), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), CYSTIC HYGROMA OF THE NECK(HP:0000476), THIN RIBS(HP:0000883), GENERALIZED AMYOPLASIA(HP:0003634), ABNORMAL CERVICAL CURVATURE(HP:0005905), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), PROLONGED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003479), FLAT NOSE(HP:0000457), MULTIPLE PTERYGIA(HP:0001040), BULBAR PALSY(HP:0001283), VARIABLE AGE AT ONSET(HP:0003618), HYPOPLASTIC HEART(HP:0001961), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), HYDROPS(HP:0000990), LOW-SET EARS(HP:0000369), SCOLIOSIS(HP:0002650), POLYHYDRAMNIOS(HP:0001561), OPHTHALMOPARESIS(HP:0000597), EASY FATIGABILITY(HP:0003388), GOWER SIGN(HP:0003391), ARTHROGRYPOSIS MULTIPLEX IN SEVERE CASES(HP:0002759)]
1145	CHRNE	[POOR SUCK(HP:0002033), DECREASED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003402), EMG SHOWS DECREMENTAL RESPONSE OF COMPOUND MUSCLE ACTION POTENTIAL (CMAP) TO REPETITIVE NERVE STIMULATION(HP:0003403), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LONG FACE(HP:0000276), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LARGE EARS(HP:0000400), MUSCLE CRAMPS(HP:0003394), INTERMITTENT EPISODES OF RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0004889), HIGH-ARCHED PALATE(HP:0000156), VARIABLE SEVERITY(HP:0003814), NONPROGRESSIVE DISORDER(HP:0003680), DENTAL MALOCCLUSION(HP:0000689), DECREASED MUSCLE MASS(HP:0003199), MUSCULAR HYPOTONIA(HP:0001252), WEAK CRY(HP:0001612), PROGRESSIVE DISORDER(HP:0003676), TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554), IMMUNOLOGICAL ABNORMALITY(HP:0002715), GENERALIZED MUSCLE WEAKNESS DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003428), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), MOTOR RETARDATION(HP:0001270), POOR FEEDING DUE TO MUSCLE WEAKNESS(HP:0002568), MUSCLE BIOPSY SHOWS DECREASED SIZE OF NERVE TERMINALS(HP:0003443), RESPIRATORY INSUFFICIENCY(HP:0002093), MANDIBULAR PROGNATHIA(HP:0000303), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), FACIAL MUSCLE WEAKNESS(HP:0010628), PROLONGED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003479), BULBAR PALSY(HP:0001283), VARIABLE AGE AT ONSET(HP:0003618), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), SCOLIOSIS(HP:0002650), OPHTHALMOPARESIS(HP:0000597), EASY FATIGABILITY(HP:0003388), GOWER SIGN(HP:0003391), STRABISMUS(HP:0000486), DECREASED FETAL MOVEMENT(HP:0001558), ARTHROGRYPOSIS MULTIPLEX IN SEVERE CASES(HP:0002759)]
1146	CHRNG	[CONTRACTURES(HP:0001371), LONG FACE(HP:0000276), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANTECUBITAL PTERYGIUM(HP:0009760), EPICANTHUS(HP:0000286), ANTERIOR CLEFTING OF VERTEBRAL BODIES(HP:0009761), INGUINAL HERNIA(HP:0000023), CRYPTORCHIDISM(HP:0000028), DOWNTURNED CORNERS OF MOUTH(HP:0002714), TALIPES CALCANEOVALGUS(HP:0001884), FUSED CERVICAL VERTEBRAE(HP:0002949), HYPERTELORISM(HP:0000316), HYPOSPADIAS(HP:0000047), NECK PTERYGIA(HP:0009759), INTERCRURAL PTERYGIUM(HP:0009757), POPLITEAL PTERYGIUM(HP:0009756), DIAPHRAGMATIC HERNIA(HP:0000776), LONG PHILTRUM(HP:0000343), THIN RIBS(HP:0000883), KYPHOSIS(HP:0002808), LONG CLAVICLES(HP:0000890), ARTHROGRYPOSIS MULTIPLEX CONGENITA(HP:0002804), ABNORMAL CERVICAL CURVATURE(HP:0005905), CAMPTODACTYLY (FEET)(HP:0001836), MULTIPLE PTERYGIA(HP:0001040), EXTERNAL AUDITORY CANAL EXOSTOSES(HP:0004459), LOW-SET EARS(HP:0000369), UMBILICAL HERNIA(HP:0001537), AXILLARY PTERYGIA(HP:0001060), HYPOPLASTIC NIPPLES(HP:0002557), POLYHYDRAMNIOS(HP:0001561), ABSENCE OF LABIA MAJORA(HP:0008729), TALIPES EQUINOVARUS(HP:0001762), BILATERAL CAMPTODACTYLY(HP:0005617), PATELLAR APLASIA(HP:0006443), MICROBRACHYDACTYLY(HP:0005630), MALIGNANT HYPERTHERMIA(HP:0002047), DYSPLASTIC PATELLA(HP:0006446), HEARING LOSS, CONDUCTIVE(HP:0000405), HIGH-ARCHED PALATE(HP:0000156), CLEFT PALATE(HP:0000175), MICROSTOMIA(HP:0000160), DISLOCATED HIPS(HP:0002827), INTRAUTERINE GROWTH RETARDATION(HP:0001511), EARLY SEVERE FETAL AKINESIA SEQUENCE(HP:0001989), RIB FUSION(HP:0000902), PULMONARY HYPOPLASIA(HP:0002089), CYSTIC HYGROMA OF THE NECK(HP:0000476), SYNDACTYLY(HP:0001159), DECREASED BODY HEIGHT(HP:0004322), GENERALIZED AMYOPLASIA(HP:0003634), ARACHNODACTYLY(HP:0001166), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), DISLOCATED RADIAL HEAD(HP:0003083), FLAT NOSE(HP:0000457), CONGENITAL VERTICAL TALUS(HP:0010218), HYPOPLASTIC HEART(HP:0001961), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), NEONATAL RESPIRATORY DISTRESS(HP:0002643), HYDROPS(HP:0000990), DIAPHRAGMATIC EVENTRATION(HP:0009110), SCOLIOSIS(HP:0002650), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
1161	ERCC8	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SMALL, SQUARED OFF PELVIS(HP:0003278), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), CORNEAL CLOUDING(HP:0000515), SALT AND PEPPER RETINAL PIGMENTATION(HP:0001124), MICROPENIS(HP:0000054), HYPERMETROPIA(HP:0000540), KYPHOSIS(HP:0002808), INCREASED CELLULAR SENSITIVITY TO UV LIGHT(HP:0003224), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), REDUCED SUBCUTANEOUS ADIPOSE TISSUE(HP:0003758), DECREASED LACRIMATION(HP:0000633), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), PIGMENTARY RETINOPATHY(HP:0000580), DELAYED ERUPTION OF DECIDUOUS TEETH(HP:0000680), SEVERE POSTNATAL GROWTH DEFICIENCY(HP:0008932), HYPOGONADISM(HP:0000135), DISTURBED VISUAL AND BRAINSTEM AUDITORY EVOKED RESPONSES INDICATIVE OF CNS DEMYELINATION(HP:0003151), CEREBRAL ATROPHY(HP:0002059), ABSENT/HYPOPLASTIC TEETH(HP:0000688), DENTAL MALOCCLUSION(HP:0000689), ATAXIA(HP:0001251), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), PREMATURELY AGED APPEARANCE(HP:0007495), DYSARTHRIA(HP:0001260), SPLENOMEGALY(HP:0001744), POLYNEUROPATHY(HP:0001271), CARIOUS TEETH(HP:0000670), BASAL GANGLIA CALCIFICATION(HP:0002135), MILD TO MODERATE JOINT LIMITATION(HP:0003101), THICKENED CALVARIA(HP:0002684), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), ABNORMAL MYELINATION IN SURAL NERVE BIOPSIES(HP:0003130), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), MICROCEPHALY(HP:0000252), DEMENTIA(HP:0000726), XERODERMA PIGMENTOSUM(HP:0007415), HYPERTENSION(HP:0000822), LOSS OF FACIAL ADIPOSE TISSUE(HP:0000292), MANDIBULAR PROGNATHIA(HP:0000303), DYSMYELINATION(HP:0003469), GAIT DISTURBANCE(HP:0001288), WIZENED FACE(HP:0000335), TREMOR(HP:0001337), MENSTRUAL IRREGULARITIES(HP:0000858), ABNORMAL FORM OF EARS(HP:0000377), PATCHY DEMYELINATION OF SUBCORTICAL WHITE MATTER(HP:0002545), DRY SKIN(HP:0000958), WEAKNESS(HP:0002309), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOPLASTIC ILIAC WINGS(HP:0002866), NORMAL PRESSURE HYDROCEPHALUS(HP:0002343), INTRAUTERINE GROWTH RETARDATION(HP:0001511), SLENDER NOSE(HP:0000417), CACHECTIC DWARFISM(HP:0001424), IVORY EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010234), ABNORMALITY OF SKIN PIGMENTATION(HP:0001000), THYMIC HORMONE DECREASED(HP:0003357), PHOTOSENSITIVITY(HP:0000992), ATYPICAL SCARRING(HP:0000987), ANHIDROSIS(HP:0000970), STRABISMUS(HP:0000486)]
1180	CLCN1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOTONIA IS MOST PRONOUNCED IN THE EXTREMITIES(HP:0003632), DELAYED RELAXATION OF MUSCLE FIBERS AFTER CONTRACTION(HP:0003754), HIGHLY VARIABLE PHENOTYPE AND SEVERITY(HP:0003821), MYOTONIA (USUALLY OCCURS DURING RAPID VOLUNTARY MUSCLE MOVEMENTS AFTER A PERIOD OF REST)(HP:0003792), MUSCLE STIFFNESS(HP:0003552), EMG SHOWS SPONTANEOUS, REPETITIVE ELECTRICAL ACTIVITY ('MYOTONIC RUNS')(HP:0003730), MYOTONIA IMPROVES WITH CONTINUED ACTIVITY ('WARM-UP PHENOMENON')(HP:0003740), ONSET IN CHILDHOOD OR ADOLESCENCE(HP:0003661), MUSCLE HYPERTROPHY OF THE LOWER EXTREMITIES(HP:0008968)]
1184	CLCN5	[RICKETS(HP:0002748), OSTEOMALACIA(HP:0002749), FOCAL GLOMERULOSCLEROSIS(HP:0004747), RENAL INSUFFICIENCY, PROGRESSIVE(HP:0001918), INTERSTITIAL FIBROSIS(HP:0000129), CURVATURES OF THE FEMUR, TIBIA, FIBULA(HP:0002976), BOWING OF THE LEGS(HP:0002979), ENLARGED EPIPHYSES(HP:0010580), VARIABLE PHENOTYPE(HP:0003813), SLOW PROGRESSION(HP:0003677), KIDNEY STONES(HP:0000787), HYPOPHOSPHATEMIC RICKETS(HP:0004912), DECREASED BODY HEIGHT(HP:0004322), RENAL FAILURE IN ADULTHOOD(HP:0000084), LATE OSSIFYING EPIPHYSES(HP:0002663), X-LINKED RECESSIVE INHERITANCE(HP:0001419), TUBULAR ATROPHY(HP:0000092), GLYCOSURIA(HP:0003076), FRAYED, IRREGULAR METAPHYSES(HP:0003017), ENLARGEMENT OF THE WRISTS(HP:0003020), BONE PAIN(HP:0002653), LOW-MOLECULAR-WEIGHT PROTEINURIA(HP:0003126), 'BULGING' EPIPHYSES(HP:0003013), HYPERCALCIURIA(HP:0002150), A SUBSET OF PATIENTS DEVELOP RENAL INSUFFICIENCY WITH DECREASED CREATININE CLEARANCE(HP:0004723), DECREASED RENAL TUBULAR PHOSPHATE REABSORPTION(HP:0000117), AMINOACIDURIA(HP:0002903), PROXIMAL RENAL TUBULE DEFECT(HP:0000114), MICROSCOPIC HEMATURIA(HP:0002907), THIN BONY CORTEX(HP:0002753), SPARSE BONE TRABECULAE(HP:0002752), RECURRENT FRACTURES(HP:0002757), NEPHROCALCINOSIS(HP:0000121), HYPERPHOSPHATURIA(HP:0003109), ENLARGEMENT OF THE ANKLES(HP:0003029)]
1186	CLCN7	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ELEVATED SERUM ACID PHOSPHATASE(HP:0003148), FACIAL PARALYSIS DUE TO CRANIAL NERVE VII COMPRESSION(HP:0007209), FRACTURES OF THE LONG BONES(HP:0003084), OSTEOSCLEROSIS, DIFFUSE SYMMETRICAL(HP:0005789), ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925), HIP OSTEOARTHRITIS(HP:0008843), ABNORMALITY OF THE PELVIS(HP:0002644), MANDIBULAR OSTEOMYELITIS(HP:0007626), ONSET IN CHILDHOOD(HP:0003578)]
1188	CLCNKB	[HYPOTENSION(HP:0002615), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RENAL POTASSIUM WASTING(HP:0000128), HYPERALDOSTERONISM(HP:0005975), HEARING LOSS, SENSORINEURAL(HP:0000407), GLOBAL GLOMERULOSCLEROSIS(HP:0004737), HYDROPS FETALIS(HP:0001789), MUSCULAR HYPOTONIA(HP:0001252), GENERALIZED MUSCLE WEAKNESS(HP:0003324), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), LOSS OF DEFINITION OF CORTICOMEDULLARY DIFFERENTIATION(HP:0005573), ONSET IN UTERO(HP:0003660), HYPOREFLEXIA(HP:0001265), HYPOKALEMIC HYPOCHLOREMIC METABOLIC ALKALOSIS(HP:0004909), IMPAIRED REABSORPTION OF CHLORIDE(HP:0005579), PREMATURE BIRTH(HP:0001622), ABNORMALITY OF THE EYES(HP:0000478), INCREASED URINARY CHLORIDE(HP:0002914), HETEROGENEOUS(HP:0001425), INCREASED URINARY POTASSIUM(HP:0003081), RENAL FAILURE(HP:0000083), POLYURIA(HP:0000103), INCREASED PLASMA RENIN(HP:0000848), INCREASED URINARY SODIUM(HP:0003608), RENAL BIOPSY SHOWS TUBULOINTERSTITIAL FIBROSIS(HP:0004714), HYPOCALCIURIA(HP:0003127), DEHYDRATION(HP:0001944), HYPERCALCIURIA(HP:0002150), HYPOCHLOREMIA(HP:0003113), POLYHYDRAMNIOS(HP:0001561), HYPONATREMIA(HP:0002902), FETAL POLYURIA(HP:0001563), HYPOKALEMIA(HP:0002900), HYPERACTIVE RENIN-ANGIOTENSIN SYSTEM(HP:0000841), NEPHROCALCINOSIS(HP:0000121)]
1200	TPP1	[ABOLISHED ELECTRORETINOGRAM (ERG)(HP:0000550), RETINAL DEGENERATION(HP:0000546), NEUROPHYSIOLOGICAL ABNORMALITY(HP:0001311), LIPOPIGMENT IN EXTRANEURONAL CELLS(HP:0003463), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AUTOFLUORESCENT LIPOPIGMENT IN NEURONS(HP:0002074), 'CURVILINEAR' PROFILES ULTRASTRUCTURALLY(HP:0003205), SPEECH AND LANGUAGE DIFFICULTIES(HP:0002399), CEREBRAL ATROPHY(HP:0002059), MYOCLONUS(HP:0001336), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL REGRESSION AFTER AGE 2 YEARS(HP:0006828), PROGRESSIVE VISUAL LOSS(HP:0000529)]
1201	CLN3	[ABOLISHED ELECTRORETINOGRAM (ERG)(HP:0000550), EXTRAPYRAMIDAL SIGNS(HP:0002071), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AUTOFLUORESCENT LIPOPIGMENT IN NEURONS(HP:0002074), PROGRESSIVE VISUAL LOSS (4 TO 10 YEARS)(HP:0000560), CEREBRAL ATROPHY(HP:0002059), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), PSYCHOMOTOR DEGENERATION(HP:0002361), MACULAR DEGENERATION(HP:0000608), LIPOPIGMENT IN EXTRANEURONAL CELLS(HP:0003463), PROGRESSIVE INABILITY TO WALK(HP:0002505), ANXIETY(HP:0000739), BLINDNESS(HP:0000618), MOOD ALTERATIONS(HP:0001296), PARKINSONISM(HP:0001300), 'CURVILINEAR' PROFILES ULTRASTRUCTURALLY(HP:0003205), 'FINGERPRINT' PROFILES ULTRASTRUCTURALLY(HP:0003208), MYOCLONUS(HP:0001336), RETINITIS PIGMENTOSA(HP:0000510), PSYCHOSIS(HP:0000709), VACUOLATED LYMPHOCYTES(HP:0001922), ABNORMALITY OF THE CEREBELLUM(HP:0001317), DEMENTIA(HP:0000726)]
1203	CLN5	[RETINAL DEGENERATION(HP:0000546), NEUROPHYSIOLOGICAL ABNORMALITY(HP:0001311), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), 'RECTILINEAR' PROFILES ULTRASTRUCTURALLY(HP:0003226), CLUMSINESS(HP:0002312), AUTOFLUORESCENT LIPOPIGMENT IN NEURONS(HP:0002074), DEVELOPMENTAL REGRESSION(HP:0002376), 'CURVILINEAR' PROFILES ULTRASTRUCTURALLY(HP:0003205), 'FINGERPRINT' PROFILES ULTRASTRUCTURALLY(HP:0003208), MOTOR DETERIORATION(HP:0002333), MYOCLONUS(HP:0001336), ATAXIA(HP:0001251), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), PROGRESSIVE VISUAL LOSS(HP:0000529)]
1244	ABCC2	[JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BILIARY TRACT ABNORMALITY(HP:0001080), CONJUGATED HYPERBILIRUBINEMIA(HP:0002908)]
1258	CNGB1	[RETINITIS PIGMENTOSA(HP:0000510), CONSTRICTED VISUAL FIELDS(HP:0001133), NIGHT BLINDNESS(HP:0000662)]
1261	CNGA3	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PHOTOPHOBIA(HP:0000613)]
1277	COL1A1	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), MITRAL VALVE PROLAPSE(HP:0001634), CONGESTIVE HEART FAILURE(HP:0001635), BOWEL DIVERTICULA(HP:0005222), DELAYED GROSS MOTOR DEVELOPMENT(HP:0002194), SMALL, IRREGULARLY PLACED TEETH(HP:0009081), TIBIAL BOWING(HP:0002982), EPICANTHUS(HP:0000286), WIDE ANTERIOR FONTANEL(HP:0000260), INGUINAL HERNIA(HP:0000023), CODFISH VERTEBRAE(HP:0002952), CONGENITAL BILATERAL HIP DISLOCATION(HP:0008780), BICONCAVE FLATTENED VERTEBRAE(HP:0003321), SOFT CALVARIA(HP:0002701), PLATYBASIA(HP:0002691), BREECH PRESENTATION(HP:0001623), PREMATURE BIRTH(HP:0001622), KYPHOSIS(HP:0002808), FRAGILE SKIN(HP:0001030), TRIANGULAR FACIES(HP:0000325), MILD OSTEOPENIA(HP:0002799), SEVERE OSTEOPOROSIS(HP:0005897), SPORADIC(HP:0003745), THIN, GRACILE LONG BONES(HP:0003060), BROAD CRUMPLED LONG BONES(HP:0006367), BOWING OF LIMBS DUE TO MULTIPLE FRACTURES(HP:0003023), POOR WOUND HEALING(HP:0001058), SHORT-LIMB DWARFISM IDENTIFIABLE AT BIRTH(HP:0001536), UMBILICAL HERNIA(HP:0001537), MILD TO MODERATE SHORT STATURE(HP:0003503), ECTOPIA LENTIS(HP:0001083), BLUE SCLERAE(HP:0000592), CIGARETTE-PAPER SCARS(HP:0001073), RECURRENT FRACTURES(HP:0002757), OTOSCLEROSIS(HP:0000362), PES PLANUS(HP:0001763), HEARING LOSS, SENSORINEURAL, PROGRESSIVE(HP:0000408), AORTIC ROOT DILATATION(HP:0002616), DENTINOGENESIS IMPERFECTA(HP:0000703), LOP EARS(HP:0000394), FEMORAL BOWING PRESENT AT BIRTH, STRAIGHTENING WITH TIME(HP:0005005), OCCASIONAL FEMORAL BOWING(HP:0004998), INFANTILE MUSCULAR HYPOTONIA(HP:0008947), NONIMMUNE HYDROPS FETALIS(HP:0001790), MULTIPLE PRENATAL FRACTURES(HP:0005855), BEAKED NOSE(HP:0000444), FRONTAL BOSSING(HP:0002007), BEADED RIBS(HP:0000923), NARROW MAXILLA(HP:0002010), PROTRUSIO ACETABULI(HP:0003179), MILD JOINT HYPERMOBILITY(HP:0005034), LOW BIRTH WEIGHT(HP:0001518), PULMONARY HYPERTENSION(HP:0002092), RESPIRATORY INSUFFICIENCY(HP:0002093), PREMATURE OSTEOARTHRITIS(HP:0003088), MOLLUSCOID PSEUDOTUMORS(HP:0000993), MICROGNATHIA(HP:0000210), LARGE FONTANELLES(HP:0000239), HYDROPS(HP:0000990), WORMIAN BONES(HP:0002645), ECCHYMOSES(HP:0000978), SCOLIOSIS(HP:0002650), FEVER(HP:0001945), EDEMA(HP:0000969), SOMATIC MOSAICISM(HP:0001442), PREMATURE BIRTH FOLLOWING PREMATURE RUPTURE OF FETAL MEMBRANES(HP:0005100), HYPEREXTENSIBLE SKIN(HP:0000974), THIN SKIN(HP:0000963)]
1278	COL1A2	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MITRAL VALVE PROLAPSE(HP:0001634), DELAYED GROSS MOTOR DEVELOPMENT(HP:0002194), AORTIC INSUFFICIENCY(HP:0001659), INGUINAL HERNIA(HP:0000023), MITRAL REGURGITATION(HP:0001653), CONGENITAL BILATERAL HIP DISLOCATION(HP:0008780), BICONCAVE FLATTENED VERTEBRAE(HP:0003321), JOINT LAXITY(HP:0001388), BREECH PRESENTATION(HP:0001623), KYPHOSIS(HP:0002808), CALCANEOVALGUS DEFORMITIES(HP:0001848), MILD OSTEOPENIA(HP:0002799), POOR WOUND HEALING(HP:0001058), MILD TO MODERATE SHORT STATURE(HP:0003503), BLUE SCLERAE(HP:0000592), ATROPHIC SCARS(HP:0001075), RECURRENT FRACTURES(HP:0002757), OTOSCLEROSIS(HP:0000362), PES PLANUS(HP:0001763), HEARING LOSS, SENSORINEURAL, PROGRESSIVE(HP:0000408), OCCASIONAL FEMORAL BOWING(HP:0004998), MUSCULAR HYPOTONIA(HP:0001252), GENU RECURVATUM(HP:0002816), ABNORMALITY OF THE TEETH(HP:0000164), MILD JOINT HYPERMOBILITY(HP:0005034), PREMATURE OSTEOARTHRITIS(HP:0003088), PECTUS EXCAVATUM(HP:0000767), AORTIC DILATATION(HP:0001724), WORMIAN BONES(HP:0002645), METABOLISM ABNORMALITY(HP:0001939), ECCHYMOSES(HP:0000978), SCOLIOSIS(HP:0002650), SOFT SKIN(HP:0000977), HYPEREXTENSIBLE SKIN(HP:0000974), THIN SKIN(HP:0000963)]
1280	COL2A1	[MALAR HYPOPLASIA(HP:0000272), CONTRACTURES(HP:0001371), SHORT STATURE, DISPROPORTIONATE (SHORT TRUNK)(HP:0003521), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MITRAL VALVE PROLAPSE(HP:0001634), ABNORMAL CARTILAGE COLLAGEN ON EM(HP:0008271), ABSENT TALUS AND CALCANEAL OSSIFICATION IN INFANCY(HP:0008142), LUMBAR KYPHOSCOLIOSIS(HP:0004619), HYPOPLASTIC PELVIC BONES(HP:0008816), INGUINAL HERNIA(HP:0000023), ABSENT PUBIC OSSIFICATION IN INFANCY(HP:0008827), SHORT ULNA(HP:0002998), PROGRESSIVE MYOPIA(HP:0001110), HIP CONTRACTURES(HP:0003273), CATARACT(HP:0000518), ROUND FACE(HP:0000311), ANTERIOR BEAKING OF VERTEBRAL BODIES(HP:0003313), C1-C2 SUBLUXATION(HP:0003320), STILLBORN OR DEATH SHORTLY AFTER BIRTH(HP:0001625), IRREGULAR VERTEBRAL ENDPLATES(HP:0003301), OVOID VERTEBRAL BODIES(HP:0003300), PECTUS CARINATUM(HP:0000768), DELAYED PUBIC BONE OSSIFICATION(HP:0008788), JOINT STIFFNESS(HP:0001387), DETACHED RETINA(HP:0000541), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), PROMINENT EYES(HP:0000536), LIMITED ELBOW EXTENSION(HP:0001377), 'PUGILISTIC FACIES'(HP:0000339), COXA VARA(HP:0002812), BLINDNESS(HP:0000618), ARTHROPATHY(HP:0003040), SHORT, HORIZONTAL RIBS(HP:0000888), FLATTENED EPIPHYSES(HP:0003071), WADDLING GAIT(HP:0002515), HYPOPLASIA OF THE TOES(HP:0004701), MILD SPONDYLOEPIPHYSEAL DYSPLASIA(HP:0002776), SPLAYED EPIPHYSES AND METAPHYSES(HP:0004978), TRACHEOMALACIA(HP:0002779), ANTERIORLY SPLAYED RIBS(HP:0006601), UMBILICAL HERNIA(HP:0001537), PROTUBERANT ABDOMEN(HP:0001538), POLYHYDRAMNIOS(HP:0001561), MARKED MICROMELIC DWARFISM(HP:0003509), ENLARGED JOINTS(HP:0003037), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), RENAL TUBULAR DYSFUNCTION(HP:0000124), CONDUCTIVE DEAFNESS(HP:0000367), BARREL-SHAPED CHEST(HP:0001552), PES PLANUS(HP:0001763), TALIPES EQUINOVARUS(HP:0001762), SHORT FEET(HP:0001766), RECURRENT OTITIS MEDIA(HP:0000403), CERVICAL MYELOPATHY(HP:0002318), GENU VALGUM(HP:0002857), HEARING LOSS, SENSORINEURAL(HP:0000407), CORONAL CLEFT VERTEBRAE(HP:0003417), SHORT, BROAD THUMBS(HP:0001240), HYDROPS FETALIS(HP:0001789), SHORT TRUNK(HP:0001524), RESPIRATORY DISTRESS(HP:0002098), VITREORETINAL DEGENERATION(HP:0000655), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), CLUB-SHAPED PROXIMAL FEMURS(HP:0006406), SHORT TUBULAR BONES (HAND)(HP:0001248), VERY SHORT, BROAD TUBULAR BONES(HP:0005044), ARTHRALGIA(HP:0002829), FLATTENED, SQUARED-OFF EPIPHYSES OF TUBULAR BONES(HP:0006172), DISLOCATED HIPS(HP:0002827), FLAT, IRREGULAR FEMORAL EPIPHYSES(HP:0006412), FLATTENED NASAL BRIDGE(HP:0000425), SHORT PROXIMAL AND MIDDLE PHALANGES(HP:0006144), BRACHYDACTYLY E-LIKE CHANGES(HP:0006115), LOW NASAL BRIDGE(HP:0000428), RESTRICTIVE LUNG DISEASE(HP:0002091), DOLICHOSTENOMELIA(HP:0001519), DIMINISHED JOINT MOBILITY AT ELBOWS, KNEES, AND HIPS(HP:0005030), HYPOPLASTIC PUBIC BONES(HP:0003173), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), HORIZONTAL ACETABULAR ROOF(HP:0003171), ABSENT VERTEBRAL BODY MINERALIZATION(HP:0004605), CYSTIC HYGROMA OF THE NECK(HP:0000476), PIERRE-ROBIN SEQUENCE(HP:0000201), CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230), DELAYED MOTOR MILESTONES(HP:0002130), SHORT NECK(HP:0000470), PLATYSPONDYLY WITH ANTERIOR WEDGING(HP:0004595), DWARFISM, SHORT-TRUNK, SHORT-LIMBED(HP:0008867), ARACHNODACTYLY(HP:0001166), NARES, ANTEVERTED(HP:0000463), BROAD HANDS(HP:0001169), EPIPHYSEAL DYSPLASIA(HP:0002656), PECTUS EXCAVATUM(HP:0000767), LATE OSSIFYING EPIPHYSES(HP:0002663), ABSENT STYLOID PROCESSES(HP:0005068), LUMBAR HYPERLORDOSIS(HP:0002938), SCLEROTIC, IRREGULAR METAPHYSES(HP:0005062), MILD PLATYSPONDYLY(HP:0002940), SHORT, DUMBBELL APPEARANCE OF LONG BONES(HP:0005061), FLAT CAPITAL FEMORAL EPIPHYSES(HP:0003370), HIP OSTEOARTHRITIS(HP:0008843), METABOLISM ABNORMALITY(HP:0001939), NARROW GREATER SACROSCIATIC NOTCHES(HP:0003375), GLAUCOMA(HP:0000501), SMALL ILIAC WINGS WITH CONCAVE INFERIOR AND MEDIAL MARGIN(HP:0008837), SOMATIC MOSAICISM(HP:0001442), SHORT-TRUNK DWARFISM IDENTIFIABLE AT BIRTH(HP:0008857)]
1281	COL3A1	[TALIPES EQUINOVARUS(HP:0001762), JOINT DISLOCATION(HP:0001373), UTERINE PROLAPSE(HP:0000139), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), OSTEOLYTIC DEFECTS OF THE PHALANGES OF THE HAND(HP:0009771), MITRAL VALVE PROLAPSE(HP:0001634), HYPERMOBILITY OF DISTAL INTERPHALANGEAL JOINTS(HP:0006201), KERATOCONUS(HP:0000563), INGUINAL HERNIA(HP:0000023), LOBELESS EARS(HP:0000387), HEMOPTYSIS(HP:0002105), SPONTANEOUS PNEUMOTHORAX(HP:0002108), CEREBRAL ANEURYSM(HP:0004944), ABNORMALITY OF THE URINARY TRACT(HP:0000079), DECREASED BODY HEIGHT(HP:0004322), FRAGILE SKIN(HP:0001030), ACROOSTEOLYSIS (FEET)(HP:0001842), MOLLUSCOID PSEUDOTUMORS(HP:0000993), THIN LIPS(HP:0000213), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), ECCHYMOSES(HP:0000978), PERIODONTAL DISEASE(HP:0000704), SOFT SKIN(HP:0000977), ALOPECIA OF SCALP(HP:0002293), PREMATURE DELIVERY BECAUSE OF CERVICAL INSUFFICIENCY OR MEMBRANE FRAGILITY(HP:0005267), HYPEREXTENSIBLE SKIN(HP:0000974), CIGARETTE-PAPER SCARS(HP:0001073), OSTEOARTHRITIS(HP:0002758)]
1282	COL4A1	[AXENFELD ANOMALY(HP:0001492), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOPIGMENTATION OF THE FUNDUS(HP:0007894), RIEGER ANOMALY(HP:0000558), MIGRAINE WITH AURA(HP:0002077), VARIABLE SEVERITY(HP:0003814), SCOTOMA(HP:0000575), LIMB DYSTONIA(HP:0002451), ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062), AGE OF ONSET(HP:0003674), CONGENITAL CATARACT(HP:0000519), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), AMBLYOPIA(HP:0000646), DETACHED RETINA(HP:0000541), NEUROPSYCHOLOGIC COGNITIVE ABNORMALITIES(HP:0006972), RETINAL ARTERIOLAR TORTUOSITY(HP:0001136), PORENCEPHALY(HP:0002132), HYPOPIGMENTATION OF THE SKIN(HP:0001010), POSTERIOR LEUKOENCEPHALOPATHY(HP:0006859), EXOTROPIA(HP:0000577), HEMIPLEGIA(HP:0002301), BLURRED VISION, EPISODIC(HP:0007723), PARTIAL ALBINISM(HP:0007443), TETRAPARESIS(HP:0002273)]
1285	COL4A3	[HEMATURIA(HP:0000790), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RENAL FAILURE(HP:0000083), HEARING LOSS(HP:0000365), NEPHRITIS(HP:0000123)]
1286	COL4A4	[HEMATURIA(HP:0000790), HETEROGENEOUS(HP:0001425), RENAL FAILURE(HP:0000083), HEARING LOSS(HP:0000365), NEPHRITIS(HP:0000123)]
1287	COL4A5	[HYPERTENSION(HP:0000822), ICHTHYOSIS(HP:0000955), HYPOPARATHYROIDISM(HP:0000829), HEARING LOSS, SENSORINEURAL(HP:0000407), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), X-LINKED INHERITANCE(HP:0001417), CONGENITAL CATARACT(HP:0000519), THROMBOCYTOPENIA(HP:0001873), DIFFUSE LEIOMYOMATOSIS(HP:0006756), MICROSCOPIC HEMATURIA(HP:0002907), LENTICONUS(HP:0001142)]
1288	COL4A6	[ABNORMALITY OF THE ABDOMEN(HP:0001438), IMPAIRED RENAL FUNCTION(HP:0000087), PROTEINURIA(HP:0000093), TRACHEOBRONCHIAL LEIOMYOMATOSIS(HP:0006524), HEMATURIA(HP:0000790), CATARACT(HP:0000518), FAILURE TO THRIVE(HP:0001508), DIFFUSE LEIOMYOMATOSIS(HP:0006756), DYSPNEA(HP:0002094), HIGH-TONE SENSORINEURAL DEAFNESS(HP:0001757)]
1289	COL5A1	[PES PLANUS(HP:0001763), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), MITRAL VALVE PROLAPSE(HP:0001634), BOWEL DIVERTICULA(HP:0005222), SMALL, IRREGULARLY PLACED TEETH(HP:0009081), VARICOSE VEINS(HP:0002619), EPICANTHUS(HP:0000286), AORTIC ROOT DILATATION(HP:0002616), LOP EARS(HP:0000394), INGUINAL HERNIA(HP:0000023), INFANTILE MUSCULAR HYPOTONIA(HP:0008947), NARROW MAXILLA(HP:0002010), JOINT LAXITY(HP:0001388), DECREASED BODY HEIGHT(HP:0004322), FRAGILE SKIN(HP:0001030), MOLLUSCOID PSEUDOTUMORS(HP:0000993), ECCHYMOSES(HP:0000978), POOR WOUND HEALING(HP:0001058), UMBILICAL HERNIA(HP:0001537), ECTOPIA LENTIS(HP:0001083), BLUE SCLERAE(HP:0000592), PREMATURE BIRTH FOLLOWING PREMATURE RUPTURE OF FETAL MEMBRANES(HP:0005100), HYPEREXTENSIBLE SKIN(HP:0000974), CIGARETTE-PAPER SCARS(HP:0001073), OSTEOARTHRITIS(HP:0002758)]
1290	COL5A2	[PES PLANUS(HP:0001763), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), MITRAL VALVE PROLAPSE(HP:0001634), BOWEL DIVERTICULA(HP:0005222), SMALL, IRREGULARLY PLACED TEETH(HP:0009081), EPICANTHUS(HP:0000286), AORTIC ROOT DILATATION(HP:0002616), LOP EARS(HP:0000394), INGUINAL HERNIA(HP:0000023), INFANTILE MUSCULAR HYPOTONIA(HP:0008947), NARROW MAXILLA(HP:0002010), JOINT HYPERMOBILITY(HP:0001382), DECREASED BODY HEIGHT(HP:0004322), FRAGILE SKIN(HP:0001030), MOLLUSCOID PSEUDOTUMORS(HP:0000993), POOR WOUND HEALING(HP:0001058), ECCHYMOSES(HP:0000978), UMBILICAL HERNIA(HP:0001537), ECTOPIA LENTIS(HP:0001083), BLUE SCLERAE(HP:0000592), PREMATURE BIRTH FOLLOWING PREMATURE RUPTURE OF FETAL MEMBRANES(HP:0005100), CIGARETTE-PAPER SCARS(HP:0001073), OSTEOARTHRITIS(HP:0002758)]
1291	COL6A1	[RECURRENT CHEST INFECTIONS(HP:0004884), CONTRACTURES(HP:0001371), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RESPIRATORY FAILURE DUE TO MUSCLE WEAKNESS MAY OCCUR IN LATE STAGES(HP:0004888), VARIABLE SEVERITY(HP:0003814), INCREASED VARIABILITY IN MUSCLE FIBER SIZE(HP:0003557), LONG, HYPEREXTENSIBLE FINGERS(HP:0006010), ROUND FACE(HP:0000311), DECREASED FETAL MOVEMENTS MAY OCCUR(HP:0007631), TYPE 1 MUSCLE FIBER PREDOMINANCE(HP:0003803), LIMB-GIRDLE MUSCLE WEAKNESS(HP:0003325), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), ONSET IN EARLY CHILDHOOD(HP:0003580), ONSET IN INFANCY(HP:0003576), SPINAL RIGIDITY(HP:0003306), TORTICOLLIS, CONGENITAL(HP:0005988), KYPHOSIS(HP:0002808), MUSCLE WEAKNESS, SEVERE(HP:0008979), MUSCLE FIBER NECROSIS(HP:0003713), FACIAL MUSCLE WEAKNESS, MILD(HP:0000353), NEONATAL HYPOTONIA(HP:0001319), TALIPES EQUINOVARUS(HP:0001762), MUSCLE BIOPSY SHOWS NONSPECIFIC MYOPATHIC CHANGES(HP:0003705), PROMINENT EARS(HP:0000412), GENERALIZED AMYOTROPHY(HP:0003700), HIGH-ARCHED PALATE(HP:0000156), NOCTURNAL HYPOVENTILATION(HP:0002877), INCREASED LAXITY OF ANKLES(HP:0006460), SLOW PROGRESSION(HP:0003677), PROGRESSIVE DISORDER(HP:0003676), ASTHENIC HABITUS(HP:0001533), DISLOCATED HIPS(HP:0002827), FAILURE TO THRIVE(HP:0001508), INCREASED LAXITY OF FINGERS(HP:0006149), RESPIRATORY INSUFFICIENCY(HP:0002093), DELAYED MOTOR MILESTONES(HP:0002130), HYPEREXTENSIBILITY AT WRISTS(HP:0005072), CONTRACTURES OF THE ANKLES(HP:0006466), METABOLISM ABNORMALITY(HP:0001939), SCOLIOSIS(HP:0002650), HYPERHIDROSIS(HP:0000975), INTEROSSEUS MUSCLE ATROPHY(HP:0007181)]
1292	COL6A2	[TALIPES EQUINOVARUS(HP:0001762), MUSCLE BIOPSY SHOWS NONSPECIFIC MYOPATHIC CHANGES(HP:0003705), RECURRENT CHEST INFECTIONS(HP:0004884), CONTRACTURES(HP:0001371), PROMINENT EARS(HP:0000412), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RESPIRATORY FAILURE DUE TO MUSCLE WEAKNESS MAY OCCUR IN LATE STAGES(HP:0004888), GENERALIZED AMYOTROPHY(HP:0003700), HIGH-ARCHED PALATE(HP:0000156), VARIABLE SEVERITY(HP:0003814), NOCTURNAL HYPOVENTILATION(HP:0002877), INCREASED LAXITY OF ANKLES(HP:0006460), INCREASED VARIABILITY IN MUSCLE FIBER SIZE(HP:0003557), LONG, HYPEREXTENSIBLE FINGERS(HP:0006010), SLOW PROGRESSION(HP:0003677), PROGRESSIVE DISORDER(HP:0003676), ROUND FACE(HP:0000311), ASTHENIC HABITUS(HP:0001533), DECREASED FETAL MOVEMENTS MAY OCCUR(HP:0007631), LIMB-GIRDLE MUSCLE WEAKNESS(HP:0003325), TYPE 1 MUSCLE FIBER PREDOMINANCE(HP:0003803), DISLOCATED HIPS(HP:0002827), FAILURE TO THRIVE(HP:0001508), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), INCREASED LAXITY OF FINGERS(HP:0006149), ONSET IN EARLY CHILDHOOD(HP:0003580), ONSET IN INFANCY(HP:0003576), TORTICOLLIS, CONGENITAL(HP:0005988), SPINAL RIGIDITY(HP:0003306), RESPIRATORY INSUFFICIENCY(HP:0002093), KYPHOSIS(HP:0002808), DELAYED MOTOR MILESTONES(HP:0002130), HYPEREXTENSIBILITY AT WRISTS(HP:0005072), METABOLISM ABNORMALITY(HP:0001939), CONTRACTURES OF THE ANKLES(HP:0006466), MUSCLE WEAKNESS, SEVERE(HP:0008979), SCOLIOSIS(HP:0002650), INTEROSSEUS MUSCLE ATROPHY(HP:0007181), HYPERHIDROSIS(HP:0000975), MUSCLE FIBER NECROSIS(HP:0003713), FACIAL MUSCLE WEAKNESS, MILD(HP:0000353), NEONATAL HYPOTONIA(HP:0001319)]
1293	COL6A3	[RECURRENT CHEST INFECTIONS(HP:0004884), CONTRACTURES(HP:0001371), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RESPIRATORY FAILURE DUE TO MUSCLE WEAKNESS MAY OCCUR IN LATE STAGES(HP:0004888), VARIABLE SEVERITY(HP:0003814), INCREASED VARIABILITY IN MUSCLE FIBER SIZE(HP:0003557), LONG, HYPEREXTENSIBLE FINGERS(HP:0006010), ROUND FACE(HP:0000311), DECREASED FETAL MOVEMENTS MAY OCCUR(HP:0007631), TYPE 1 MUSCLE FIBER PREDOMINANCE(HP:0003803), LIMB-GIRDLE MUSCLE WEAKNESS(HP:0003325), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), ONSET IN EARLY CHILDHOOD(HP:0003580), ONSET IN INFANCY(HP:0003576), SPINAL RIGIDITY(HP:0003306), TORTICOLLIS, CONGENITAL(HP:0005988), KYPHOSIS(HP:0002808), MUSCLE WEAKNESS, SEVERE(HP:0008979), MUSCLE FIBER NECROSIS(HP:0003713), FACIAL MUSCLE WEAKNESS, MILD(HP:0000353), NEONATAL HYPOTONIA(HP:0001319), TALIPES EQUINOVARUS(HP:0001762), MUSCLE BIOPSY SHOWS NONSPECIFIC MYOPATHIC CHANGES(HP:0003705), PROMINENT EARS(HP:0000412), GENERALIZED AMYOTROPHY(HP:0003700), HIGH-ARCHED PALATE(HP:0000156), NOCTURNAL HYPOVENTILATION(HP:0002877), INCREASED LAXITY OF ANKLES(HP:0006460), SLOW PROGRESSION(HP:0003677), PROGRESSIVE DISORDER(HP:0003676), ASTHENIC HABITUS(HP:0001533), DISLOCATED HIPS(HP:0002827), FAILURE TO THRIVE(HP:0001508), INCREASED LAXITY OF FINGERS(HP:0006149), RESPIRATORY INSUFFICIENCY(HP:0002093), DELAYED MOTOR MILESTONES(HP:0002130), HYPEREXTENSIBILITY AT WRISTS(HP:0005072), CONTRACTURES OF THE ANKLES(HP:0006466), METABOLISM ABNORMALITY(HP:0001939), SCOLIOSIS(HP:0002650), HYPERHIDROSIS(HP:0000975), INTEROSSEUS MUSCLE ATROPHY(HP:0007181)]
1294	COL7A1	[JOINT CONTRACTURES(HP:0001372), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SQUAMOUS CELL CARCINOMA(HP:0002860), CORNEAL SCARRING(HP:0000559), ESOPHAGEAL STRICTURE(HP:0002043), FRAGILE SKIN(HP:0001030), CONSTIPATION(HP:0002019), ALOPECIA(HP:0001596), ANEMIA(HP:0001903), MALNUTRITION(HP:0004395), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), CONJUNCTIVITIS(HP:0000509), CONGENITAL LOCALIZED ABSENCE OF SKIN(HP:0007383), CATARACT(HP:0000518), NAIL DYSPLASIA(HP:0002164), METABOLISM ABNORMALITY(HP:0001939), MILIA(HP:0001056), MICROSTOMIA(HP:0000160), DYSPHAGIA(HP:0002015), GROWTH RETARDATION(HP:0001510), ATROPHIC SCARS(HP:0001075), MITTEN DEFORMITY(HP:0004057), ONSET AT BIRTH(HP:0003577), SPONTANEOUS ESOPHAGEAL PERFORATION(HP:0005203)]
1296	COL8A2	[CORNEAL DYSTROPHY(HP:0001131), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EARLY ONSET(HP:0003593), SPORADIC(HP:0003745)]
1297	COL9A1	[ABNORMALITY OF THE PELVIS(HP:0002644), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MULTIPLE EPIPHYSEAL DYSPLASIA(HP:0002654), IRREGULAR VERTEBRAL ENDPLATES(HP:0003301), IRREGULAR EPIPHYSES(HP:0010582), ONSET IN CHILDHOOD(HP:0003578), OSTEOARTHRITIS(HP:0002758)]
1298	COL9A2	[ABNORMALITY OF THE HAND(HP:0001155), HETEROGENEOUS(HP:0001425), KNEE OSTEOARTHRITIS(HP:0005086), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EPIPHYSEAL DYSPLASIA(HP:0002656), WADDLING GAIT(HP:0002515), FLAT, IRREGULAR EPIPHYSES(HP:0004982), MILD SHORT STATURE(HP:0003502)]
1299	COL9A3	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROXIMAL MUSCLE WEAKNESS(HP:0003701), EPIPHYSEAL DYSPLASIA(HP:0002656), LATE OSSIFYING EPIPHYSES(HP:0002663), HIP OSTEOARTHRITIS(HP:0008843), ABNORMALITY OF THE PELVIS(HP:0002644), MUSCLE STIFFNESS(HP:0003552), MILD SHORT STATURE(HP:0003502), SMALL, IRREGULAR EPIPHYSES(HP:0003039), MILDLY ELEVATED CREATINE PHOSPHOKINASE(HP:0008180), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049)]
1301	COL11A1	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EPICANTHUS(HP:0000286), ESOTROPIA(HP:0000565), SEVERE MYOPIA (> -6.00 DIOPTERS)(HP:0000569), CONGENITAL CATARACT(HP:0000519), HYPERTELORISM(HP:0000316), DETACHED RETINA(HP:0000541), JOINT HYPERMOBILITY(HP:0001382), ABSENT FRONTAL SINUSES(HP:0002688), LONG PHILTRUM(HP:0000343), ARTHROPATHY(HP:0003040), MILD SPONDYLOEPIPHYSEAL DYSPLASIA(HP:0002776), LOW-SET EARS(HP:0000369), IRREGULAR FEMORAL EPIPHYSES(HP:0006361), PROMINENT UPPER CENTRAL INCISORS(HP:0000675), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOPLASTIC ILIA(HP:0000946), SMALL, IRREGULAR PROXIMAL TIBIAL EPIPHYSES(HP:0006456), WIDE TUFTS OF DISTAL PHALANGES(HP:0006095), FULL LIPS(HP:0000170), VITREORETINAL DEGENERATION(HP:0000655), NASAL HYPOPLASIA(HP:0003196), SMALL, IRREGULAR DISTAL FEMORAL EPIPHYSES(HP:0006407), CLEFT PALATE(HP:0000175), FLATTENED NASAL BRIDGE(HP:0000425), LENS DISLOCATION(HP:0000665), COXA VALGA(HP:0002673), PIERRE-ROBIN SEQUENCE(HP:0000201), DECREASED BODY HEIGHT(HP:0004322), BIFID UVULA(HP:0000193), THICKENED CALVARIA(HP:0002684), ARACHNODACTYLY(HP:0001166), NARES, ANTEVERTED(HP:0000463), MILD PLATYSPONDYLY(HP:0002940), MICROGNATHIA(HP:0000210), GLAUCOMA(HP:0000501)]
1302	COL11A2	[MIXED HEARING LOSS(HP:0000410), JOINT CONTRACTURES(HP:0001372), MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), ENLARGED EPIPHYSES(HP:0010580), PLATYSPONDYLY (CHILDHOOD)(HP:0003421), ABSENT-SMALL CAPITAL FEMORAL EPIPHYSES(HP:0005003), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), CORONAL CLEFT VERTEBRAE(HP:0003417), CONGENITAL SENSORINEURAL HEARING LOSS(HP:0008527), PSYCHOMOTOR RETARDATION(HP:0001255), BULBOUS NASAL TIP(HP:0000443), CLEFT PALATE(HP:0000175), ARTHRALGIA(HP:0002829), PROPTOSIS(HP:0000520), HYPERTELORISM(HP:0000316), FLATTENED NASAL BRIDGE(HP:0000425), RHIZOMELIC SHORTENING(HP:0002968), RECURRENT PNEUMONIA(HP:0002095), PIERRE-ROBIN SEQUENCE(HP:0000201), LARGE TARSAL BONES(HP:0004679), PREMATURE OSTEOARTHRITIS(HP:0003088), SMALL HANDS(HP:0001165), DECREASED BODY HEIGHT(HP:0004322), MANDIBULAR HYPOPLASIA(HP:0000347), NARES, ANTEVERTED(HP:0000463), EPIPHYSEAL DYSPLASIA(HP:0002656), DUMBBELL WIDENING OF LONG BONE METAPHYSES(HP:0005071), LUMBAR HYPERLORDOSIS(HP:0002938), CONGENITAL NON-PROGRESSIVE, NON-SYNDROMIC SENSORINEURAL HEARING LOSS(HP:0004457), MILD PLATYSPONDYLY(HP:0002940), MICROGNATHIA(HP:0000210), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), PROMINENT INTERPHALANGEAL JOINTS(HP:0006237), METAPHYSEAL FLARING(HP:0003015), ENLARGED JOINTS(HP:0003037), SHORT LONG BONES(HP:0003026), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049)]
1308	COL17A1	[HETEROGENEOUS(HP:0001425), ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), PALMAR HYPERHIDROSIS(HP:0006089), ATYPICAL SCARRING(HP:0000987), NAIL DYSPLASIA(HP:0002164), PLANTAR HYPERKERATOSIS(HP:0007556), FRAGILE NAILS(HP:0001808), HYPODONTIA(HP:0000668), CARIOUS TEETH(HP:0000670), ONSET IN CHILDHOOD(HP:0003578), MILD FINGER CONTRACTURES(HP:0006218)]
1311	COMP	[SHORT-LIMB DWARFISM IDENTIFIABLE DURING CHILDHOOD(HP:0003523), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE FACE(HP:0000271), SHORT, WIDE FEMORAL NECK(HP:0008781), JOINT LAXITY(HP:0001388), OVOID VERTEBRAL BODIES(HP:0003300), LIGAMENTOUS LAXITY(HP:0001380), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), ULNAR DEVIATION OF THE WRIST(HP:0003049), KYPHOSIS(HP:0002808), WADDLING GAIT(HP:0002515), CERVICAL CORD COMPRESSION MYELOPATHY(HP:0007145), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), MILD TO MODERATE SHORT STATURE(HP:0003503), GENERALIZED JOINT LAXITY(HP:0002761), SMALL, IRREGULAR EPIPHYSES(HP:0003039), SHORT LONG BONES(HP:0003026), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), CARPAL BONE HYPOPLASIA(HP:0001498), GENU VALGUM(HP:0002857), ATLANTOAXIAL DISLOCATION(HP:0003414), PLATYSPONDYLY(HP:0000926), ONSET BEFORE AGE 2 YEARS(HP:0003667), IRREGULAR MUSHROOMED METAPHYSES(HP:0005032), HETEROGENEOUS(HP:0001425), LIMITED ELBOW AND HIP EXTENSION(HP:0003093), EPIPHYSEAL DYSPLASIA(HP:0002656), LATE OSSIFYING EPIPHYSES(HP:0002663), LUMBAR HYPERLORDOSIS(HP:0002938), MILD IRREGULARITY OF VERTEBRAL ENDPLATES(HP:0004583), MILD SHORT-LIMB DWARFISM(HP:0008880), ANTERIOR FLATTENING AND/OR BEAKING OF VERTEBRAE(HP:0004577), FRAGMENTED, IRREGULAR EPIPHYSES(HP:0005063), HIP OSTEOARTHRITIS(HP:0008843), SCOLIOSIS(HP:0002650), SMALL, IRREGULAR CARPALS(HP:0006072)]
1312	COMT	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
1316	KLF6	[CHRONIC ATROPHIC GASTRITIS(HP:0002582), EARLY ONSET(HP:0003593), NEOPLASIA(HP:0002664)]
1326	MAP3K8	[ALVEOLAR CELL CARCINOMA(HP:0006519), RESPIRATORY ABNORMALITY(HP:0002086), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
1340	COX6B1	[RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LIVER BIOPSY SHOWS INCREASED LIPID DROPLETS(HP:0006565), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), ANEMIA(HP:0001903), LIVER DYSFUNCTION(HP:0004393), EXERCISE INTOLERANCE(HP:0003546), EXERTIONAL DYSPNEA(HP:0002875), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), DEVELOPMENTAL RETARDATION(HP:0001263), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), RENAL FANCONI SYNDROME(HP:0001994), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HYPOKINESIA(HP:0002375), HETEROGENEOUS(HP:0001425), MUSCLE BIOPSY SHOWS DECREASE OR ABSENCE OF CYTOCHROME C OXIDASE(HP:0009006), PROTEINURIA(HP:0000093), GLYCOSURIA(HP:0003076), HEPATOMEGALY(HP:0002240), PTOSIS(HP:0000508), RESPIRATORY DIFFICULTIES(HP:0002880), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), INCREASED SERUM LACTATE(HP:0002151), AMINOACIDURIA(HP:0002903), RENAL TUBULAR DYSFUNCTION(HP:0000124), HYPERPHOSPHATURIA(HP:0003109)]
1355	COX15	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), SPASTICITY(HP:0001257), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), NYSTAGMUS(HP:0000639), HYPERTRICHOSIS(HP:0000998), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), DYSTONIA(HP:0001332), INCREASED SERUM LACTATE(HP:0002151), OPHTHALMOPLEGIA(HP:0000602), DEMYELINATION(HP:0003381)]
1356	CP	[RETINAL DEGENERATION(HP:0000546), INCREASED SERUM FERRITIN(HP:0003281), DIABETES MELLITUS(HP:0000819), EXTRAPYRAMIDAL SIGNS(HP:0002071), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TORTICOLLIS(HP:0000473), CHOREA(HP:0002072), COGWHEEL RIGIDITY(HP:0002396), ATAXIA(HP:0001251), ONSET BEFORE AGE 2 YEARS(HP:0003667), DYSARTHRIA(HP:0001260), BLEPHAROSPASM(HP:0000643), SCANNING SPEECH(HP:0002168), MILD ANEMIA(HP:0001926), DEMENTIA, PROGRESSIVE(HP:0002274)]
1369	CPN1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE SKIN(HP:0000951)]
1371	CPOX	[NEUROPATHY(HP:0003407), HYPERTENSION(HP:0000822), RESPIRATORY PARALYSIS(HP:0002203), JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TACHYCARDIA(HP:0001649), ABDOMINAL PAIN(HP:0002027), DIARRHEA(HP:0002014), VOMITING(HP:0002013), SPLENOMEGALY(HP:0001744), SEVERE CONSTIPATION(HP:0003786), NEONATAL HEMOLYTIC ANEMIA(HP:0004811), ANXIETY(HP:0000739), HALLUCINATIONS(HP:0000738), CONFUSION(HP:0001289), PHOTOSENSITIVITY(HP:0000992), HEPATOMEGALY(HP:0002240), ACUTE EPISODES OF NEUROPATHIC SYMPTOMS(HP:0003489), METABOLISM ABNORMALITY(HP:0001939), DEPRESSION(HP:0000716)]
1373	CPS1	[PROTEIN AVOIDANCE(HP:0002038), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IRRITABILITY(HP:0000737), CEREBRAL EDEMA(HP:0002181), LETHARGY(HP:0001254), ATAXIA(HP:0001251), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), RESPIRATORY ALKALOSIS(HP:0001950), EPISODIC AMMONIA INTOXICATION(HP:0001951), COMA(HP:0001259), VOMITING(HP:0002013), LOW PLASMA CITRULLINE(HP:0003572), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508)]
1374	CPT1A	[CARDIOMEGALY(HP:0001640), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PRENATAL MATERNAL ABNORMALITY(HP:0002686), TRANSIENT HYPERLIPIDEMIA(HP:0008279), ENCEPHALOPATHY, RECURRENT(HP:0007335), FEEDING DIFFICULTIES(HP:0002022), HEPATOMEGALY(HP:0002240), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), SEIZURES(HP:0001250), COMA(HP:0001259), DIARRHEA(HP:0002014), RENAL TUBULAR ACIDOSIS(HP:0001947), HYPOKETOTIC HYPOGLYCEMIA(HP:0001985), INCREASED SERUM CREATINE KINASE(HP:0002147), ELEVATED TRANSAMINASES(HP:0002910)]
1376	CPT2	[CARDIOMEGALY(HP:0001640), ABNORMALITY OF THE FEET(HP:0001760), BULBOUS NOSE(HP:0000414), CONTRACTURES(HP:0001371), DILATED CARDIOMYOPATHY(HP:0001644), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCREASED LIVER FUNCTION TESTS(HP:0003156), LIPID ACCUMULATION IN HEPATOCYTES(HP:0006561), MUSCLE CRAMPS(HP:0003394), DYSPLASTIC OR ABSENT CORPUS CALLOSUM(HP:0006800), KNEE CONTRACTURES(HP:0002978), LIPID ACCUMULATION IN SKELETAL MUSCLE(HP:0009058), BASAL GANGLIA CYSTS(HP:0006799), HIGH-ARCHED PALATE(HP:0000156), FEEDING DIFFICULTIES(HP:0002022), OVERFOLDED HELICES(HP:0000396), LETHARGY(HP:0001254), RESPIRATORY DISTRESS(HP:0002098), LONG-CHAIN DICARBOXYLIC ACIDURIA(HP:0008293), MUSCLE STIFFNESS(HP:0003552), SEIZURES(HP:0001250), MACROVESICULAR STEATOSIS(HP:0001403), MYALGIA(HP:0003326), APNEA(HP:0002104), VOMITING(HP:0002013), HYPERAMMONEMIA(HP:0001987), INCREASED TOTAL BILIRUBIN(HP:0003573), HYPOKETOTIC HYPOGLYCEMIA(HP:0001985), ELEVATED LONG CHAIN FATTY ACIDS(HP:0003455), LIVER CALCIFICATIONS(HP:0006559), ONSET IN INFANCY(HP:0003576), LONG TAPERED FINGERS(HP:0006125), DECREASED PLASMA TOTAL AND FREE CARNITINE(HP:0008315), ABNORMALITY OF THE EYES(HP:0000478), NEURONAL MIGRATION DISORDER(HP:0002269), HIGH, SLOPING FOREHEAD(HP:0000342), INTRACEREBRAL PERIVENTRICULAR CALCIFICATIONS(HP:0007229), URETERAL DUPLICATION(HP:0000073), RHABDOMYOLYSIS(HP:0003201), VENTRICULOMEGALY(HP:0002119), NONKETOTIC HYPOGLYCEMIA(HP:0001958), RENAL FAILURE(HP:0000083), POLYMICROGYRIA(HP:0002126), HEPATOMEGALY(HP:0002240), INCREASED CREATINE KINASE(HP:0003078), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), LOW-SET EARS(HP:0000369), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), RESPIRATORY ARREST(HP:0005943), ANTENATAL INTRACEREBRAL HEMORRHAGE(HP:0007023), ENLARGED POLYCYSTIC KIDNEYS(HP:0004716), MICROCEPHALY(HP:0000252), POSTERIORLY ROTATED EARS(HP:0000358), HYPOPLASTIC TOENAILS(HP:0001800), OLIGOHYDRAMNIOS(HP:0001562), HYDRONEPHROSIS(HP:0000126), WIDE INTERMAMILLARY DISTANCE(HP:0006610), NEONATAL HYPOTONIA(HP:0001319)]
1387	CREBBP	[DELAYED SKELETAL MATURATION(HP:0002750), PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DEVIATED NASAL SEPTUM(HP:0004411), THICK EYEBROWS(HP:0000574), CRYPTORCHIDISM(HP:0000028), CHORIORETINAL DYSTROPHY(HP:0001135), CATARACT(HP:0000518), FRONTAL HAIR UPSWEEP(HP:0002236), LONG EYELASHES(HP:0000527), HYPOSPADIAS(HP:0000047), LARGE FORAMEN MAGNUM(HP:0002700), SHAWL SCROTUM(HP:0000049), VENTRICULAR SEPTAL DEFECT(HP:0001629), PARIETAL FORAMINA(HP:0002697), SPINA BIFIDA OCCULTA(HP:0003298), ATRIAL SEPTAL DEFECT(HP:0001631), HIGHLY ARCHED EYEBROWS(HP:0001584), NASOLACRIMAL DUCT OBSTRUCTION(HP:0000579), COLOBOMA(HP:0000589), PLANTAR CREASE BETWEEN FIRST AND SECOND TOES(HP:0008107), PES PLANUS(HP:0001763), DENTAL OVERCROWDING(HP:0000678), HIGH-ARCHED PALATE(HP:0000156), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), SMALL, FLARED ILIAC WINGS(HP:0003181), ENOPHTHALMOS(HP:0000663), AGENESIS OF CORPUS CALLOSUM(HP:0001274), SYNDACTYLY(HP:0001159), POLYDACTYLY (HANDS)(HP:0001161), SHORT ATTENTION SPAN(HP:0000736), ABNORMALITY OF THE STERNUM(HP:0000766), MICROGNATHIA(HP:0000210), LOW POSTERIOR HAIRLINE(HP:0002162), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), PROMINENT FINGERTIP PADS(HP:0001212), RETROGNATHIA(HP:0000278), EPICANTHUS(HP:0000286), WIDE ANTERIOR FONTANEL(HP:0000260), DISLOCATION OF PATELLA(HP:0002999), DELAYED CLOSURE OF FONTANELLES(HP:0000270), HYPERREFLEXIA(HP:0001347), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), POOR SPEECH(HP:0002465), LOW FRONTAL HAIRLINE(HP:0000294), JOINT HYPERMOBILITY(HP:0001382), HYPOPLASIA OF THE MAXILLA(HP:0000327), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), LOW-SET EARS(HP:0000369), ABNORMAL FORM OF EARS(HP:0000377), HEARING LOSS(HP:0000365), BROAD HALLUX(HP:0010055), CAFE-AU-LAIT SPOTS(HP:0000957), TRANSVERSE PALMAR CREASES(HP:0000954), UNSTEADY GAIT(HP:0002317), CONSTIPATION(HP:0002019), BROAD PHALANGES OF THE THUMB(HP:0009651), COLUMELLA, SHORT(HP:0002000), BEAKED NOSE(HP:0000444), FRONTAL BOSSING(HP:0002007), EEG ABNORMALITIES(HP:0002353), BROAD NASAL BRIDGE(HP:0000431), POOR COORDINATION(HP:0002370), DECREASED BODY HEIGHT(HP:0004322), HIRSUTISM(HP:0001007), INCREASED RISK OF LEUKEMIA(HP:0006726), CAPILLARY HEMANGIOMAS(HP:0005306), PTOSIS(HP:0000508), GLAUCOMA(HP:0000501), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486)]
1392	CRH	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE ABDOMEN(HP:0001438), HYPOGLYCEMIA(HP:0001943), SEIZURES(HP:0001250), SECONDARY GROWTH HORMONE DEFICIENCY(HP:0008240), ADRENAL INSUFFICIENCY(HP:0000846), AGENESIS OF CORPUS CALLOSUM(HP:0001274), FACIAL DYSMORPHISM(HP:0001999)]
1406	CRX	[RETINITIS PIGMENTOSA(HP:0000510), CONE-ROD DYSTROPHY(HP:0000548), CONSTRICTED VISUAL FIELDS(HP:0001133), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CHORIORETINAL ATROPHY(HP:0000533), PERIPHERAL VISUAL FIELD LOSS(HP:0007994), NIGHT BLINDNESS(HP:0000662)]
1410	CRYAB	[HYPOREFLEXIA AT ANKLE JOINTS(HP:0009072), RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), PROXIMAL MUSCLE WEAKNESS OCCURS LATER(HP:0003694), DISTAL MUSCLE WEAKNESS(HP:0002460), MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES(HP:0003544), CATARACT(HP:0000518), SLOW PROGRESSION(HP:0003677), MUSCLE FIBER SPLITTING(HP:0003555), LIMB-GIRDLE MUSCLE WEAKNESS(HP:0003325), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), ONSET IN ADULTHOOD(HP:0003581), RESPIRATORY INSUFFICIENCY(HP:0002093), NECK MUSCLE WEAKNESS(HP:0000467), AUTOPHAGIC VACUOLES(HP:0003736), INCREASED SERUM CREATINE KINASE(HP:0002147), FOOT DROP(HP:0003377)]
1411	CRYBA1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LAMELLAR CATARACT(HP:0007971)]
1421	CRYGD	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NONNUCLEAR POLYMORPHIC CONGENITAL CATARACT(HP:0007692)]
1438	CSF2RA	[HEMATOLOGICAL ABNORMALITY(HP:0001871)]
1441	CSF3R	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEPATOSPLENOMEGALY(HP:0001433), THICKENED CALVARIA(HP:0002684), HEMATOLOGICAL ABNORMALITY(HP:0001871), ELEVATED LEUKOCYTE ALKALINE PHOSPHATASE(HP:0008318)]
1462	VCAN	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CATARACT(HP:0000518), VITREORETINAL DEGENERATION(HP:0000655), OPTIC ATROPHY(HP:0000648), GLAUCOMA(HP:0000501), VISUAL FIELD DEFECTS(HP:0001123), CHORIORETINAL ATROPHY(HP:0000533), LOSS OF RETINAL PIGMENT EPITHELIUM(HP:0007722), PERIPHERAL TRACTION RETINAL DETACHMENT(HP:0007643)]
1471	CST3	[GENERALIZED AMYLOID DEPOSITION(HP:0003216), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INTRACRANIAL HEMORRHAGE(HP:0002170), DEMENTIA(HP:0000726)]
1476	CSTB	[GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), ATAXIA(HP:0001251), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DYSARTHRIA(HP:0001260), ABSENCE SEIZURES(HP:0002121), MILD MENTAL DETERIORATION(HP:0007264)]
1482	NKX2-5	[ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BROAD FOREHEAD(HP:0000337), ENDOCRINE ABNORMALITY(HP:0000818), PREAURICULAR SINUS(HP:0004467), TETRALOGY OF FALLOT(HP:0001636), GROWTH ABNORMALITY(HP:0001507), ATRIAL SEPTAL DEFECT(HP:0001631), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), PROMINENT EYES(HP:0000536)]
1491	CTH	[MENTAL RETARDATION(HP:0001249), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CYSTATHIONINURIA(HP:0003153)]
1497	CTNS	[DELAYED SKELETAL MATURATION(HP:0002750), RICKETS(HP:0002748), DELAYED PUBERTY(HP:0000823), DIABETES MELLITUS(HP:0000819), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GENU VALGUM(HP:0002857), RECURRENT EPISODES OF ACIDOSIS(HP:0005963), CEREBRAL ATROPHY(HP:0002059), PANCREATIC INSUFFICIENCY(HP:0002581), ABNORMALITY OF THE VOICE(HP:0001608), MYOPATHY(HP:0003198), HYPOPHOSPHATEMIC RICKETS(HP:0004912), KIDNEY STONES(HP:0000787), FRONTAL BOSSING(HP:0002007), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), DYSPHAGIA(HP:0002015), SPLENOMEGALY(HP:0001744), CORNEAL CRYSTALS(HP:0000531), RENAL FANCONI SYNDROME(HP:0001994), RACHITIC ROSARY(HP:0000897), PHOTOPHOBIA(HP:0000613), END STAGE RENAL DISEASE(HP:0003774), DECREASED BODY HEIGHT(HP:0004322), POLYDIPSIA(HP:0001959), AMYOTROPHY(HP:0003202), HAIR ABNORMALITY(HP:0001595), ELEVATED WHITE BLOOD CELL CYSTINE(HP:0003358), PROTEINURIA(HP:0000093), JUVENILE ONSET(HP:0003621), GLYCOSURIA(HP:0003076), HEPATOMEGALY(HP:0002240), MALE INFERTILITY(HP:0003251), POLYURIA(HP:0000103), METAPHYSEAL WIDENING(HP:0003016), IMPAIRED VISION(HP:0000505), PERIPHERAL RETINOPATHY(HP:0007869), FAILURE TO THRIVE IN FIRST YEAR OF LIFE(HP:0008863), PRIMARY HYPOTHYROIDISM(HP:0000832), RETINOPATHY(HP:0000488), HYPONATREMIA(HP:0002902), NEPHROPATHY(HP:0000112), MICROSCOPIC HEMATURIA(HP:0002907), ONSET IN ADOLESCENCE(HP:0003590), LATE ONSET(HP:0003584), HYPOHIDROSIS(HP:0000966), GENERALIZED AMINOACIDURIA(HP:0002909)]
1499	CTNNB1	[HETEROGENEOUS(HP:0001425), NEOPLASIA OF THE SKIN(HP:0008069), SUBACUTE PROGRESSIVE VIRAL HEPATITIS(HP:0006572), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SOMATIC MUTATION(HP:0001428), MICRONODULAR CIRRHOSIS(HP:0001413), BREAST CANCER(HP:0003002), OVARIAN PAPILLARY ADENOCARCINOMA(HP:0006774), METABOLISM ABNORMALITY(HP:0001939), HEPATOCELLULAR CARCINOMA(HP:0001402)]
1509	CTSD	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AUTOFLUORESCENT LIPOPIGMENT IN NEURONS(HP:0002074), VISUAL LOSS(HP:0000572), RETINAL ATROPHY(HP:0001105), RIGIDITY(HP:0002063), ATAXIA(HP:0001251), APNEA(HP:0002104), OBLITERATED FONTANELLES(HP:0005458), SPASTICITY(HP:0001257), BROAD NASAL BRIDGE(HP:0000431), CEREBELLAR ATROPHY(HP:0001272), RESPIRATORY INSUFFICIENCY(HP:0002093), STATUS EPILEPTICUS(HP:0002133), SLOPING FOREHEAD(HP:0000340), EARLY DEATH(HP:0001432), RETINITIS PIGMENTOSA(HP:0000510), LOW-SET EARS(HP:0000369), NEURONAL LOSS(HP:0002400), METABOLISM ABNORMALITY(HP:0001939), MICROCEPHALY(HP:0000252), ONSET AT BIRTH OR EARLY CHILDHOOD(HP:0003595), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
1513	CTSK	[DELAYED ERUPTION OF DECIDUOUS TEETH(HP:0000680), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE SKIN(HP:0000951), DELAYED ERUPTION OF SECONDARY TEETH(HP:0000696), HYPODONTIA(HP:0000668), SPONDYLOLISTHESIS(HP:0003302), CARIOUS TEETH(HP:0000670), FRONTAL AND OCCIPITAL PROMINENCE(HP:0004489), NARROW PALATE(HP:0000189), OSTEOSCLEROSIS(HP:0010738), ABSENT FRONTAL SINUSES(HP:0002688), SPONDYLOLYSIS(HP:0003304), BRACHYDACTYLY(HP:0001156), OSTEOLYTIC DEFECTS OF THE DISTAL PHALANGES OF THE HAND(HP:0009839), DECREASED BODY HEIGHT(HP:0004322), PERSISTENT OPEN ANTERIOR FONTANELLE(HP:0004474), ABNORMALITY OF THE THORAX(HP:0000765), MICROGNATHIA(HP:0000210), PROMINENT NOSE(HP:0000448), WORMIAN BONES(HP:0002645), ABNORMALITY OF THE PELVIS(HP:0002644), SCOLIOSIS(HP:0002650), GROOVED NAILS(HP:0001811), PERSISTENCE OF DECIDUOUS TEETH(HP:0006341)]
1528	CYB5A	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CYANOSIS(HP:0000961)]
1535	CYBA	[RECTAL ABSCESS(HP:0005224), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KLEBSIELLA INFECTIONS(HP:0002742), E. COLI INFECTIONS(HP:0002740), SERRATIA MARCESCENS INFECTIONS(HP:0002741), STAPHYLOCOCCUS AUREUS INFECTIONS(HP:0002726), ASPERGILLUS INFECTIONS(HP:0002724), ABSENCE OF BACTERICIDAL OXIDATIVE 'RESPIRATORY BURST' IN PHAGOCYTES(HP:0002723), ABSCESS FORMATION IN ANY ORGAN(HP:0002722), IMMUNODEFICIENCY(HP:0002721), LYMPHADENOPATHY(HP:0002716), PNEUMONIA DUE TO IMMUNODEFICIENCY(HP:0002096), CELLULITIS DUE TO IMMUNODEFICIENCY(HP:0003553), TISSUE BIOPSY SHOWS GRANULOMAS(HP:0002955), HEPATIC ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0001400), SPLENOMEGALY(HP:0001744), PERIRECTAL ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0002567), BURKHOLDERIA CEPACIA INFECTIONS(HP:0002842), LYMPHADENITIS(HP:0002840), HYPOKINESIA(HP:0002375), NEGATIVE NITROBLUE TETRAZOLIUM (NBT) REDUCTION TEST(HP:0003203), DECREASED ACTIVITY OF NADPH OXIDASE(HP:0003206), ONSET USUALLY IN FIRST DECADE(HP:0003619), HEPATOMEGALY(HP:0002240), ECZEMATOID DERMATITIS(HP:0000976), DERMATITIS, INFECTIOUS, DUE TO IMMUNODEFICIENCY IMPETIGO(HP:0000983), DISCOID LUPUS IN CARRIERS OR ADULTS WITH MILD DISEASE(HP:0000981), DEFICIENCY OR ABSENCE OF CYTOCHROME B(-245)(HP:0003514), OSTEOMYELITIS DUE TO IMMUNODEFICIENCY(HP:0002755)]
1536	CYBB	[RECTAL ABSCESS(HP:0005224), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KLEBSIELLA INFECTIONS(HP:0002742), E. COLI INFECTIONS(HP:0002740), SERRATIA MARCESCENS INFECTIONS(HP:0002741), STAPHYLOCOCCUS AUREUS INFECTIONS(HP:0002726), ASPERGILLUS INFECTIONS(HP:0002724), ABSENCE OF BACTERICIDAL OXIDATIVE 'RESPIRATORY BURST' IN PHAGOCYTES(HP:0002723), ABSCESS FORMATION IN ANY ORGAN(HP:0002722), IMMUNODEFICIENCY(HP:0002721), LYMPHADENOPATHY(HP:0002716), PNEUMONIA DUE TO IMMUNODEFICIENCY(HP:0002096), CELLULITIS DUE TO IMMUNODEFICIENCY(HP:0003553), TISSUE BIOPSY SHOWS GRANULOMAS(HP:0002955), HEPATIC ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0001400), SPLENOMEGALY(HP:0001744), PERIRECTAL ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0002567), BURKHOLDERIA CEPACIA INFECTIONS(HP:0002842), LYMPHADENITIS(HP:0002840), HYPOKINESIA(HP:0002375), NEGATIVE NITROBLUE TETRAZOLIUM (NBT) REDUCTION TEST(HP:0003203), DECREASED ACTIVITY OF NADPH OXIDASE(HP:0003206), X-LINKED RECESSIVE INHERITANCE(HP:0001419), ONSET USUALLY IN FIRST DECADE(HP:0003619), HEPATOMEGALY(HP:0002240), ECZEMATOID DERMATITIS(HP:0000976), DERMATITIS, INFECTIOUS, DUE TO IMMUNODEFICIENCY IMPETIGO(HP:0000983), DISCOID LUPUS IN CARRIERS OR ADULTS WITH MILD DISEASE(HP:0000981), DEFICIENCY OR ABSENCE OF CYTOCHROME B(-245)(HP:0003514), OSTEOMYELITIS DUE TO IMMUNODEFICIENCY(HP:0002755)]
1540	CYLD	[NEOPLASIA OF THE SKIN(HP:0008069), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET IN EARLY ADULTHOOD(HP:0003627)]
1543	CYP1A1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
1544	CYP1A2	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1545	CYP1B1	[LATE ONSET CONGENITAL GLAUCOMA(HP:0008041), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), BUPHTHALMOS(HP:0000557), INCREASED INTRAOCULAR PRESSURE(HP:0007906), ABNORMAL IRIS VASCULATURE(HP:0007905)]
1548	CYP2A6	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1557	CYP2C19	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
1559	CYP2C9	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1565	CYP2D6	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEUROLOGICAL ABNORMALITY(HP:0000707), NEOPLASIA(HP:0002664)]
1583	CYP11A1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOSPADIAS(HP:0000047), RENAL SALT WASTING(HP:0000127), ADRENOGENITAL SYNDROME(HP:0000840)]
1584	CYP11B1	[HYPERTENSION(HP:0000822), CONGENITAL ADRENAL HYPERPLASIA(HP:0008258), ACCELERATED SKELETAL MATURATION(HP:0005616), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCREASED SKIN PIGMENTATION(HP:0007527), ABNORMALITY OF THE URINARY TRACT(HP:0000079), DECREASED SERUM ALDOSTERONE(HP:0002924), DECREASED BODY HEIGHT(HP:0004322), VARIABLE AGE AT ONSET (CHILDHOOD TO ADULT)(HP:0003630), ONSET IN NEONATAL PERIOD(HP:0003623), DECREASED RENIN(HP:0003351), RUDIMENTARY UTERUS AND VAGINA(HP:0008637), INCREASED PLASMA ALDOSTERONE(HP:0000859), ENLARGED PENIS(HP:0000040), AMBIGUOUS GENITALIA DUE TO VIRILIZATION(HP:0008690), LOW PLASMA RENIN ACTIVITY(HP:0003263), HYPOKALEMIA(HP:0002900), PRECOCIOUS PUBERTY IN MALES(HP:0008185), DECREASED TESTICULAR SIZE(HP:0008734), ADRENOGENITAL SYNDROME(HP:0000840), CLITOROMEGALY(HP:0000057)]
1585	CYP11B2	[HYPERTENSION(HP:0000822), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED SERUM ALDOSTERONE(HP:0002924), FEVER, EPISODIC(HP:0001954), FEEDING DIFFICULTIES(HP:0002022), ONSET IN NEONATAL PERIOD(HP:0003623), INCREASED SERUM RENIN(HP:0003615), DEHYDRATION(HP:0001944), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), HYPONATREMIA(HP:0002902), HYPOALDOSTERONISM(HP:0000355), RENAL SALT WASTING(HP:0000127), ORTHOSTATIC HYPOTENSION(HP:0001278), HYPERKALEMIA(HP:0002153)]
1586	CYP17A1	[HYPERTENSION(HP:0000822), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PRIMARY AMENORRHEA(HP:0000786), MALE PSEUDOHERMAPHRODITISM(HP:0000037), HYPOKALEMIC ALKALOSIS(HP:0001949), GYNECOMASTIA(HP:0000771), ADRENOGENITAL SYNDROME(HP:0000840), AMBIGUOUS GENITALIA(HP:0000062)]
1588	CYP19A1	[ACCELERATED SKELETAL MATURATION(HP:0005616), DECREASED BODY HEIGHT(HP:0004322), MALE-LIMITED AUTOSOMAL DOMINANT(HP:0001475), POLYCYSTIC OVARIES(HP:0000147), PRIMARY AMENORRHEA(HP:0000786), METABOLISM ABNORMALITY(HP:0001939), AMBIGUOUS EXTERNAL GENITALIA(HP:0008693), GYNECOMASTIA(HP:0000771), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
1589	CYP21A2	[HYPERTENSION(HP:0000822), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE THORAX(HP:0000765), HYPOGLYCEMIA(HP:0001943), HYPOSPADIAS(HP:0000047), GYNECOMASTIA(HP:0000771), GROWTH ABNORMALITY(HP:0001507), RENAL SALT WASTING(HP:0000127), ADRENOGENITAL SYNDROME(HP:0000840)]
1593	CYP27A1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOCARDIAL INFARCTION(HP:0001658), JUVENILE CATARACTS(HP:0001118), OSTEOPOROSIS(HP:0000939), XANTHELASMA(HP:0001114), CEREBELLAR ATAXIA(HP:0001253), MENTAL RETARDATION(HP:0001249), SPASTICITY(HP:0001257), POLYNEUROPATHY(HP:0001271), RESPIRATORY INSUFFICIENCY(HP:0002093), DELUSIONS(HP:0000746), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), METABOLISM ABNORMALITY(HP:0001939), PSEUDOBULBAR PARALYSIS(HP:0007024), ANGINA PECTORIS(HP:0001681), DEMENTIA(HP:0000726)]
1594	CYP27B1	[RICKETS(HP:0002748), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CURVATURES OF THE FEMUR, TIBIA, FIBULA(HP:0002976), BOWING OF THE LEGS(HP:0002979), SEIZURES DUE TO HYPOCALCEMIA(HP:0002199), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), DEFORMED RIB CAGE(HP:0000886), 'BULGING' OF THE COSTOCHONDRAL JUNCTION(HP:0000893), SECONDARY HYPERPARATHYROIDISM(HP:0000867), FRAYED, IRREGULAR METAPHYSES(HP:0003017), PROTUBERANT ABDOMEN DUE TO MUSCLE WEAKNESS(HP:0001546), ENLARGEMENT OF THE WRISTS(HP:0003020), PROTUBERANT ABDOMEN(HP:0001538), 'BULGING' EPIPHYSES(HP:0003013), THIN BONY CORTEX(HP:0002753), SPARSE BONE TRABECULAE(HP:0002752), RECURRENT FRACTURES(HP:0002757), ENLARGEMENT OF THE ANKLES(HP:0003029), ELEVATED SERUM PARATHYROID HORMONE (PTH) LEVEL(HP:0003165), DELAYED DENTITION(HP:0000684), DIFFICULTY STANDING(HP:0003698), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), ENLARGED EPIPHYSES(HP:0010580), MUSCULAR HYPOTONIA(HP:0001252), FRONTAL BOSSING(HP:0002007), ENLARGEMENT OF THE COSTOCHONDRAL JUNCTION(HP:0000920), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), DIFFICULTY WALKING(HP:0002355), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), IRRITABILITY(HP:0000737), LATE OSSIFYING EPIPHYSES(HP:0002663), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), BONE PAIN(HP:0002653), HYPOPHOSPHATEMIA(HP:0002148), HYPOCALCEMIA(HP:0002901), SUBPERIOSTEAL EROSIONS DUE TO SECONDARY HYPERPARATHYROIDISM(HP:0003106), POSTERIOR FLATTENING OF THE SKULL(HP:0000247), GENERALIZED AMINOACIDURIA(HP:0002909)]
1617	DAZ1	[METABOLISM ABNORMALITY(HP:0001939), AZOOSPERMIA(HP:0000027), Y-LINKED INHERITANCE(HP:0001450)]
1621	DBH	[BRADYKINESIA(HP:0002067), HETEROGENEOUS(HP:0001425), PERSONALITY CHANGES(HP:0000751), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOTHERMIA, EPISODIC, IN INFANTS(HP:0005970), HYPOSMIA(HP:0004409), PARKINSONISM(HP:0001300), NOCTURIA(HP:0000017), HIGH-ARCHED PALATE(HP:0000156), ORTHOSTATIC HYPOTENSION, SEVERE, RECURRENT(HP:0004932), RIGIDITY(HP:0002063), TREMOR(HP:0001337), PTOSIS(HP:0000508), HYPOGLYCEMIA, EPISODIC, IN INFANTS(HP:0004917), DEPRESSION(HP:0000716), DYSARTHRIA(HP:0001260), MASK-LIKE FACIES(HP:0000298), SOFT VOICE(HP:0001621), DEMENTIA(HP:0000726), SHORT STEPPED SHUFFLING GAIT(HP:0007311)]
1622	DBI	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEUROLOGICAL ABNORMALITY(HP:0000707)]
1629	DBT	[MENTAL RETARDATION IF UNTREATED(HP:0003767), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HALLUCINATIONS(HP:0000738), ELEVATED PLASMA BRANCHED CHAIN AMINO ACIDS(HP:0008344), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL EDEMA(HP:0002181), LETHARGY(HP:0001254), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PANCREATITIS(HP:0001733), SEIZURES(HP:0001250), COMA(HP:0001259), KETOSIS(HP:0001946), VOMITING(HP:0002013), GROWTH ABNORMALITY(HP:0001507), HYPERTONIA(HP:0001276)]
1630	DCC	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MIRROR HAND MOVEMENTS (BIMANUAL SYNKINESIA)(HP:0001335)]
1633	DCK	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1636	ACE	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE URINARY TRACT(HP:0000079), POTTER FACIES(HP:0002009), MICROCEPHALY(HP:0000252), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), RESPIRATORY ABNORMALITY(HP:0002086), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492)]
1637	DCR	[HYPOTHYROIDISM(HP:0000821), MALAR HYPOPLASIA(HP:0000272), BRUSHFIELD SPOTS(HP:0001088), EPICANTHUS(HP:0000286), JOINT LAXITY(HP:0001388), DUODENAL STENOSIS/ATRESIA(HP:0005205), ALZHEIMER DISEASE(HP:0002511), ATLANTOAXIAL INSTABILITY(HP:0003467), CONGENITAL MEGACOLON(HP:0002251), HYPOPLASTIC/SMALL MIDDLE PHALANX OF THE 5TH FINGER(HP:0004220), UPSLANTING PALPEBRAL FISSURES(HP:0000582), SMALL EARS(HP:0000409), TRANSVERSE PALMAR CREASES(HP:0000954), HEARING LOSS, CONDUCTIVE(HP:0000405), ANAL ATRESIA(HP:0002023), MACROGLOSSIA(HP:0000158), HYPOPLASTIC ILIAC WINGS(HP:0002866), MUSCULAR HYPOTONIA(HP:0001252), MENTAL RETARDATION(HP:0001249), SHALLOW ACETABULAR FOSSAE(HP:0003182), EXCESS NUCHAL SKIN(HP:0000474), DECREASED BODY HEIGHT(HP:0004322), SHORT BROAD HANDS(HP:0001174), ACUTE MEGAKARYOCYTIC LEUKEMIA(HP:0006733), ISOLATED CASES(HP:0001420), COMPLETE ATRIOVENTRICULAR CANAL(HP:0001674), BRACHYCEPHALY(HP:0000248)]
1639	DCTN1	[BRADYKINESIA(HP:0002067), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ALVEOLAR HYPOVENTILATION(HP:0004892), LOWER MOTOR NEURON DISEASE(HP:0007276), RIGIDITY(HP:0002063), BREATHING DIFFICULTY DUE TO VOCAL CORD PARALYSIS(HP:0006847), SLOW PROGRESSION(HP:0003677), DYSARTHRIA(HP:0001260), SLEEP DISTURBANCES(HP:0002360), MASK-LIKE FACIES(HP:0000298), SOFT VOICE(HP:0001621), DYSPNEA(HP:0002094), RESPIRATORY INSUFFICIENCY(HP:0002093), FACIAL MUSCLE WEAKNESS(HP:0010628), APATHY(HP:0000741), PARKINSONISM(HP:0001300), ONSET IN EARLY ADULTHOOD(HP:0003627), AMYOTROPHY INVOLVING THE LOWER LIMBS(HP:0003746), AMYOTROPHY INVOLVING THE MUSCULATURE OF THE HAND(HP:0009130), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), TREMOR(HP:0001337), RESPIRATORY DIFFICULTIES(HP:0002880), NEURONAL LOSS(HP:0002400), DEPRESSION(HP:0000716), METABOLISM ABNORMALITY(HP:0001939), GLIOSIS(HP:0002171), SHORT STEPPED SHUFFLING GAIT(HP:0007311)]
1641	DCX	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), INCOMPLETE PENETRANCE(HP:0003829), HIGHLY VARIABLE PHENOTYPE(HP:0003815), ATAXIA(HP:0001251), DEATH IN INFANCY(HP:0001522), DYSARTHRIA(HP:0001260), MOTOR RETARDATION(HP:0001270), MICROPENIS(HP:0000054), GROWTH FAILURE(HP:0001517), AGENESIS OF CORPUS CALLOSUM(HP:0001274), INTRACTABLE SEIZURES(HP:0001303), PACHYGYRIA(HP:0001302), X-LINKED INHERITANCE(HP:0001417), NYSTAGMUS(HP:0000639), LISSENCEPHALY(HP:0001339), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
1642	DDB1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP E, SUBTYPE 2(HP:0007580)]
1643	DDB2	[XERODERMA PIGMENTOSUM(HP:0007415), DERMAL ATROPHY(HP:0004334), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PHOTOPHOBIA(HP:0000613), TELANGIECTASIA(HP:0001009), POIKILODERMA(HP:0001029), ENTROPION(HP:0000621), PHOTOSENSITIVITY(HP:0000992), FRECKLING(HP:0001480), DEFECTIVE DNA REPAIR AFTER ULTRAVIOLET RADIATION DAMAGE(HP:0003079), CONJUNCTIVITIS(HP:0000509), EARLY ONSET(HP:0003593), KERATITIS(HP:0000491), ECTROPION(HP:0000656)]
1644	DDC	[HYPOTENSION(HP:0002615), MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TEMPERATURE INSTABILITY(HP:0005968), CONSTIPATION(HP:0002019), GASTROESOPHAGEAL REFLUX(HP:0002020), FEEDING DIFFICULTIES(HP:0002022), INTERMITTENT HYPOTHERMIA(HP:0005964), LIMB DYSTONIA(HP:0002451), HYPERREFLEXIA(HP:0001347), ABNORMALITY OF THE FACE(HP:0000271), PSYCHOMOTOR RETARDATION(HP:0001255), DEVELOPMENTAL RETARDATION(HP:0001263), DIARRHEA(HP:0002014), CHOREOATHETOSIS(HP:0001266), DECREASED CSF HOMOVANILLIC ACID (HVA)(HP:0003785), SLEEP DISTURBANCES(HP:0002360), HYPOKINESIA(HP:0002375), LIMB HYPERTONIA(HP:0002509), IRRITABILITY(HP:0000737), MIOSIS(HP:0000616), BABINSKI SIGN(HP:0003487), PTOSIS(HP:0000508), MYOCLONUS(HP:0001336), EMOTIONAL LABILITY(HP:0000712), ONSET IN EARLY INFANCY(HP:0003591)]
1666	DECR1	[HYPERLYSINEMIA(HP:0002161), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RESPIRATORY ACIDOSIS(HP:0005972), NEONATAL HYPOTONIA(HP:0001319)]
1674	DES	[TALIPES EQUINOVARUS(HP:0001762), SCAPULOPERONEAL WEAKNESS(HP:0003704), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), NECK MUSCLE WEAKNESS(HP:0000467), FACIAL MUSCLE WEAKNESS(HP:0010628), CONSTIPATION(HP:0002019), PROXIMAL MUSCLE WEAKNESS OCCURS LATER(HP:0003694), VARIABLE PHENOTYPE(HP:0003813), DISTAL MUSCLE WEAKNESS(HP:0002460), BULBAR PALSY(HP:0001283), HYPOREFLEXIA OF LOWER LIMBS(HP:0002600), RESTRICTIVE HEART FAILURE(HP:0005130), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), PERONEAL MUSCLE ATROPHY(HP:0009049), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), DIARRHEA(HP:0002014), SHOULDER GIRDLE MUSCLE ATROPHY(HP:0003724)]
1675	CFD	[PARTIAL FUNCTIONAL COMPLEMENT FACTOR D DEFICIENCY(HP:0008338), RECURRENT NEISSERIAL INFECTIONS(HP:0005430)]
1678	TIMM8A	[DIFFUSE MUSCLE ATROPHY(HP:0009074), MYOPIA(HP:0000545), HYPERREFLEXIA(HP:0001347), CONSTRICTED VISUAL FIELDS(HP:0001133), ABNORMAL ELECTRORETINOGRAM(HP:0000512), OPTIC ATROPHY(HP:0000648), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), SPASTICITY(HP:0001257), MENTAL DETERIORATION(HP:0001268), ONSET IN CHILDHOOD(HP:0003578), PHOTOPHOBIA(HP:0000613), BLINDNESS(HP:0000618), SENSORINEURAL DEAFNESS, POSTLINGUAL, PROGRESSIVE(HP:0008596), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), X-LINKED RECESSIVE INHERITANCE(HP:0001419), TREMOR(HP:0001337), MODERATE DIFFUSE SKELETAL MUSCLE WASTING(HP:0008977), METABOLISM ABNORMALITY(HP:0001939), ABNORMAL POSTURING(HP:0002533), DYSTONIA(HP:0001332), CORTICAL BLINDNESS(HP:0000595), INFANTILE SENSORINEURAL HEARING LOSS(HP:0008610), DEMENTIA(HP:0000726)]
1687	DFNA5	[AGE OF ONSET(HP:0003674), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
1714	DGCR	[HYPOTHYROIDISM(HP:0000821), PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TETRALOGY OF FALLOT(HP:0001636), INGUINAL HERNIA(HP:0000023), PERSISTANT TRUNCUS ARTERIOSUS(HP:0001660), HYPERNASAL SPEECH(HP:0001614), HYPERTELORISM(HP:0000316), VENTRICULAR SEPTAL DEFECT(HP:0001629), SUSCEPTIBILITY TO INFECTION(HP:0002964), ABNORMALITY OF THE THYMUS(HP:0000777), POSTERIOR EMBRYOTOXON(HP:0000627), PARATHYROID ABSENCE(HP:0008211), SEBORRHEIC DERMATITIS(HP:0001051), SHORT PHILTRUM(HP:0000322), TETANY(HP:0001281), EXOTROPIA(HP:0000577), LOW-SET EARS(HP:0000369), BLEPHAROPHIMOSIS(HP:0000581), ABNORMALITY OF THE MIDDLE EAR(HP:0000370), RENAL DYSPLASIA(HP:0000110), UMBILICAL HERNIA(HP:0001537), ACNE(HP:0001061), PARATHYROID HYPOPLASIA(HP:0000860), CHOLELITHIASIS(HP:0001081), BIPOLAR AFFECTIVE DISORDER(HP:0007302), HYDRONEPHROSIS(HP:0000126), UNILATERAL RENAL AGENESIS(HP:0000122), HIGH-ARCHED PALATE(HP:0000156), IMMUNE DEFECT DUE TO A T CELL DEFICIT(HP:0005373), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), SCLEROCORNEA(HP:0000647), AMBLYOPIA(HP:0000646), OBESITY(HP:0001513), MILD TO MODERATE LEARNING DIFFICULTIES(HP:0007234), BIFID UVULA(HP:0000193), DECREASED BODY HEIGHT(HP:0004322), MICROGNATHIA(HP:0000210), LATE-ONSET SPEECH DEVELOPMENT(HP:0007004), SCOLIOSIS(HP:0002650), ATTENTION DEFICIT HYPERACTIVITY DISORDER(HP:0007018), RIGHT AORTIC ARCH(HP:0002627), HYPOCALCEMIA(HP:0002901)]
1716	DGUOK	[DISCONJUGATE EYE MOVEMENTS(HP:0000549), JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOTHERMIA(HP:0002045), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL ATROPHY(HP:0002059), LIVER TISSUE SHOWS 80 TO 99% DEPLETION OF MITOCHONDRIAL DNA(HP:0006581), HYPERREFLEXIA(HP:0001347), PERIPORTAL FIBROSIS(HP:0001405), HEPATOCELLULAR NECROSIS(HP:0001404), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), HEPATIC STEATOSIS(HP:0001397), HEPATIC FAILURE(HP:0001399), THROMBOCYTOPENIA(HP:0001873), VOMITING(HP:0002013), SPLENOMEGALY(HP:0001744), POLYNEUROPATHY(HP:0001271), FAILURE TO THRIVE(HP:0001508), HYPOKINESIA(HP:0002375), MITOCHONDRIAL INHERITANCE(HP:0001427), ENCEPHALOPATHY(HP:0001298), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), PORTAL HYPERTENSION(HP:0001409), MICRONODULAR CIRRHOSIS(HP:0001413), HYPOALBUMINEMIA(HP:0003073), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), ASCITES(HP:0001541), MICROCEPHALY(HP:0000252), COAGULOPATHY(HP:0001925), DECREASED ACTIVITIES OF MITOCHONDRIAL-ENCODED RESPIRATORY CHAIN COMPLEXES(HP:0008972), HYPERBILIRUBINEMIA(HP:0002904), GENERALIZED AMINOACIDURIA(HP:0002909)]
1717	DHCR7	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CRYPTORCHIDISM(HP:0000028), HYPOPLASTIC/SMALL THUMB(HP:0009778), CATARACT(HP:0000518), SCROTAL HYPOPLASIA(HP:0000046), HYPOSPADIAS(HP:0000047), BIFID SCROTUM(HP:0000048), VENTRICULAR SEPTAL DEFECT(HP:0001629), MICROPENIS(HP:0000054), ATRIAL SEPTAL DEFECT(HP:0001631), AMBIGUOUS GENITALIA(HP:0000062), BREECH PRESENTATION(HP:0001623), PREMATURE BIRTH(HP:0001622), CONGENITAL MEGACOLON(HP:0002251), NYSTAGMUS(HP:0000639), RENAL HYPOPLASIA(HP:0000089), RENAL CYSTS(HP:0000107), RENAL AGENESIS(HP:0000104), PERIVENTRICULAR GRAY MATTER HETEROTOPIAS(HP:0007165), HYDRONEPHROSIS(HP:0000126), DECREASED FETAL MOVEMENT(HP:0001558), CHOLESTATIC LIVER DISEASE(HP:0002611), HAMMER TOES(HP:0001765), DENTAL OVERCROWDING(HP:0000678), HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079), HYPOCHOLESTEROLEMIA(HP:0003146), SEVERE PHOTOSENSITIVITY(HP:0007537), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), ABNORMAL LUNG LOBATION(HP:0002101), GASTROINTESTINAL DYSMOTILITY(HP:0002579), BROAD ALVEOLAR RIDGES(HP:0000187), HYPERTONIA(HP:0001276), SEPTATE VAGINA(HP:0001153), SLEEP-WAKE CYCLE DISTURBANCE(HP:0006979), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SELF-MUTILATION(HP:0000742), HYPERACTIVITY(HP:0000752), MICROGNATHIA(HP:0000210), AUTISM(HP:0000717), AGGRESSIVE BEHAVIOR(HP:0000718), MICROCEPHALY(HP:0000252), COARCTATION OF AORTA(HP:0001680), EPICANTHUS(HP:0000286), HOLOPROSENCEPHALY(HP:0001360), PRECOCIOUS PUBERTY(HP:0000826), BICORNUATE UTERUS(HP:0000813), BITEMPORAL NARROWING(HP:0000314), HYPERTELORISM(HP:0000316), LONG PHILTRUM(HP:0000343), DANDY-WALKER MALFORMATION(HP:0001305), METATARSUS VARUS(HP:0001840), GENERALIZED HYPOTONIA(HP:0001290), 2-3 TOE SYNDACTYLY(HP:0004691), HYPOPLASTIC FRONTAL LOBES(HP:0007333), POSTAXIAL POLYDACTYLY (FEET)(HP:0001830), LOW-SET EARS(HP:0000369), POSTERIORLY ROTATED EARS(HP:0000358), HEARING LOSS(HP:0000365), POOR SUCK(HP:0002033), PROXIMALLY PLACED THUMB(HP:0009623), RECURRENT OTITIS MEDIA(HP:0000403), CONSTIPATION(HP:0002019), PYLORIC STENOSIS(HP:0002021), GASTROESOPHAGEAL REFLUX(HP:0002020), FLAT, BROAD NASAL BRIDGE(HP:0000439), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), PRENATAL GROWTH DEFICIENCY(HP:0001515), DECREASED BODY HEIGHT(HP:0004322), NARES, ANTEVERTED(HP:0000463), PTOSIS(HP:0000508), STRABISMUS(HP:0000486)]
1718	DHCR24	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), ALVEOLAR RIDGE OVERGROWTH(HP:0009085), MACROCEPHALY(HP:0000256), AMBIGUOUS GENITALIA, MALE(HP:0000033), RHIZOMELIC SHORTENING(HP:0002968), OSTEOSCLEROSIS(HP:0010738), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), AMBIGUOUS GENITALIA, FEMALE(HP:0000061), TOTAL ANOMALOUS PULMONARY VENOUS RETURN(HP:0005160), LOW-SET EARS(HP:0000369), CUP-SHAPED EARS(HP:0000378), POSTERIORLY ROTATED EARS(HP:0000358), BILATERAL CLUB FEET(HP:0001776), GINGIVAL FIBROMATOSIS(HP:0000169), CLEFT PALATE(HP:0000175), FRONTAL BOSSING(HP:0002007), DEVELOPMENTAL RETARDATION(HP:0001263), CONTRACTURES OF THE HANDS, MILD(HP:0006173), HYPOPLASTIC NASAL BRIDGE(HP:0005281), MICROGNATHIA(HP:0000210), MICROCEPHALY(HP:0000252), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), ABNORMALITY OF CHOLESTEROL METABOLISM(HP:0003107)]
1719	DHFR	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MEGALOBLASTIC ANEMIA(HP:0001889)]
1727	CYB5R3	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEADACHE(HP:0002315), ERYTHROCYTOSIS(HP:0001901), OPISTHOTONUS(HP:0002179), RESPIRATORY DIFFICULTIES(HP:0002880), METABOLISM ABNORMALITY(HP:0001939), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), MICROCEPHALY(HP:0000252), GROWTH RETARDATION(HP:0001510), CYANOSIS(HP:0000961), HYPERTONIA(HP:0001276), STRABISMUS(HP:0000486), DYSPNEA(HP:0002094)]
1729	DIAPH1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), LOW-FREQUENCY HEARING LOSS(HP:0008542), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), PROGRESSIVE HEARING LOSS(HP:0001730), ONSET IN CHILDHOOD(HP:0003578)]
1733	DIO1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ASYMPTOMATIC HYPERTHYROXINEMIA(HP:0008212), ABNORMALITY OF THE NECK(HP:0000464)]
1736	DKC1	[PULMONARY FIBROSIS(HP:0002206), ORAL LEUKOPLAKIA(HP:0002745), SQUAMOUS CELL CARCINOMA(HP:0002860), URETHRAL STENOSIS(HP:0008661), MYELODYSPLASIA(HP:0002863), ESOPHAGEAL STRICTURE(HP:0002043), CEREBELLAR MALFORMATION(HP:0002438), OSTEOPOROSIS(HP:0000939), EPIPHORA(HP:0001486), DEATH IN EARLY CHILDHOOD(HP:0003817), CRYPTORCHIDISM(HP:0000028), SPARSE EYELASHES(HP:0000653), CATARACT(HP:0000518), ATAXIA(HP:0001251), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), PHIMOSIS(HP:0001741), HYPOSPADIAS(HP:0000047), CIRRHOSIS(HP:0001394), PANCYTOPENIA(HP:0001876), ANAL MUCOSAL LEUKOPLAKIA(HP:0005212), CARIOUS TEETH(HP:0000670), PREMATURE GRAYING OF HAIR(HP:0002216), RESTRICTIVE LUNG DISEASE(HP:0002091), PRENATAL GROWTH DEFICIENCY(HP:0001515), ACUTE MYELOID LEUKEMIA(HP:0004808), DERMAL ATROPHY(HP:0004334), DECREASED BODY HEIGHT(HP:0004322), HORSESHOE KIDNEY(HP:0000085), ALOPECIA(HP:0001596), X-LINKED RECESSIVE INHERITANCE(HP:0001419), CONJUNCTIVITIS(HP:0000509), PTERYGIUM FORMATION (NAILS)(HP:0002165), NAIL DYSPLASIA(HP:0002164), RETICULATED SKIN PIGMENTATION(HP:0007427), BLEPHARITIS(HP:0000498), LONGITUDINAL SPLITTING(HP:0001809), CEREBELLAR HYPOPLASIA(HP:0001321), EARLY TOOTH LOSS(HP:0001564), MICROCEPHALY(HP:0000252), HYPERHIDROSIS(HP:0000975), LONGITUDINAL RIDGING(HP:0001801), DECREASED TESTICULAR SIZE(HP:0008734), STRABISMUS(HP:0000486)]
1737	DLAT	[DROOLING(HP:0002307), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DELAYED GROSS MOTOR DEVELOPMENT(HP:0002194), LACTIC ACIDOSIS, MAY BE MILD(HP:0005960), HYPERREFLEXIA(HP:0001347), ATAXIA(HP:0001251), POOR SPEECH(HP:0002465), CHOREOATHETOID MOVEMENTS(HP:0002469), MENTAL RETARDATION, MILD(HP:0001256), JERKY HEAD MOVEMENTS(HP:0006961), ONSET IN INFANCY(HP:0003576), OCULOMOTOR APRAXIA(HP:0000657), HYPOKINESIA(HP:0002375), NYSTAGMUS(HP:0000639), PTOSIS(HP:0000508), DYSTONIA, EPISODIC(HP:0002412), MICROCEPHALY(HP:0000252), NEONATAL HYPOTONIA(HP:0001319)]
1738	DLD	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL EDEMA(HP:0002181), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), PANCREATITIS(HP:0001733), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), COMA(HP:0001259), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), HYPERTONIA(HP:0001276), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), MENTAL RETARDATION IF UNTREATED(HP:0003767), HETEROGENEOUS(HP:0001425), HALLUCINATIONS(HP:0000738), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), ELEVATED PLASMA BRANCHED CHAIN AMINO ACIDS(HP:0008344), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), NYSTAGMUS(HP:0000639), HYPERTRICHOSIS(HP:0000998), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), KETOSIS(HP:0001946), DYSTONIA(HP:0001332), INCREASED SERUM LACTATE(HP:0002151), OPHTHALMOPLEGIA(HP:0000602), DEMYELINATION(HP:0003381)]
1747	DLX3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TAURODONTIA(HP:0000679), HAIR ABNORMALITY(HP:0001595), SMALL, WIDELY SPACED TEETH(HP:0006307), DOLICHOCEPHALY(HP:0000268), FRONTAL BOSSING(HP:0002007), FRAGILE NAILS(HP:0001808), AMELOGENESIS IMPERFECTA, HYPOMATURATION-HYPOPLASIA TYPE(HP:0006284), OSTEOSCLEROSIS(HP:0010738)]
1756	DMD	[CALF MUSCLE PSEUDOHYPERTROPHY(HP:0003707), CONTRACTURES(HP:0001371), DILATED CARDIOMYOPATHY(HP:0001644), WEAKNESS(HP:0002309), CONGESTIVE HEART FAILURE(HP:0001635), X-LINKED RECESSIVE INHERITANCE(HP:0001419), WADDLING GAIT(HP:0002515), INCREASED CREATINE KINASE(HP:0003078), MUSCULAR HYPOTONIA(HP:0001252), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), ONSET BEFORE AGE 2 YEARS(HP:0003667), SCOLIOSIS(HP:0002650), MUSCULAR DYSTROPHY(HP:0003560), MENTAL RETARDATION, MILD(HP:0001256), GOWER SIGN(HP:0003391), HYPOREFLEXIA(HP:0001265), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), RESPIRATORY INSUFFICIENCY(HP:0002093)]
1758	DMP1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CRANIOSYNOSTOSIS(HP:0001363), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOPHOSPHATEMIC RICKETS(HP:0004912), OSTEOSCLEROSIS(HP:0010738)]
1760	DMPK	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WEAKNESS(HP:0002309), HYPOGONADISM(HP:0000135), FEEDING DIFFICULTIES(HP:0002022), FACIAL DIPLEGIA(HP:0001349), TESTICULAR ATROPHY(HP:0000029), OBSESSIVE-COMPULSIVE TRAIT(HP:0008770), RESPIRATORY DISTRESS(HP:0002098), CATARACT(HP:0000518), MUSCULAR HYPOTONIA(HP:0001252), DYSPHAGIA(HP:0002015), MYOTONIA(HP:0002486), HEART BLOCK(HP:0001668), FRONTAL BALDING (MALE PATTERN BALDNESS)(HP:0002292), CHOLELITHIASIS(HP:0001081), POLYHYDRAMNIOS(HP:0001561), ATRIAL ARRHYTHMIAS(HP:0001692), DECREASED FETAL MOVEMENT(HP:0001558), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
1785	DNM2	[PES CAVUS(HP:0001761), CONTRACTURES(HP:0001371), EXTERNAL OPHTHALMOPLEGIA(HP:0000544), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PROXIMAL MUSCLE WEAKNESS(HP:0003701), DISTAL MUSCLE WEAKNESS(HP:0002460), DISTAL AMYOTROPHY(HP:0003693), MYOPATHY(HP:0003198), SLOW PROGRESSION(HP:0003677), MOTOR RETARDATION(HP:0001270), SLEEPY FACIAL EXPRESSION(HP:0005335), HYPOREFLEXIA(HP:0001265), HETEROGENEOUS(HP:0001425), SEGMENTAL DEMYELINATION(HP:0007107), FACIAL MUSCLE WEAKNESS(HP:0010628), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), AXONAL DEGENERATION(HP:0000764), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), X-LINKED INHERITANCE(HP:0001417), AREFLEXIA(HP:0001284), PTOSIS(HP:0000508), METABOLISM ABNORMALITY(HP:0001939), MUSCLE HYPERTROPHY(HP:0003712), EASY FATIGABILITY(HP:0003388), ONSET IN FIRST OR SECOND DECADE(HP:0003589), DECREASED NUMBER OF MYELINATED FIBERS(HP:0003380), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383)]
1789	DNMT3B	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), MACROGLOSSIA(HP:0000158), MALABSORPTION(HP:0002024), NEURODEGENERATION(HP:0002180), SMALL, UPTURNED NOSE(HP:0003195), DIARRHEA(HP:0002014), HYPERTELORISM(HP:0000316), BRONCHIECTASIS(HP:0002110), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), PNEUMONIA(HP:0002090), CHRONIC BRONCHITIS(HP:0004469), VARIABLE MENTAL RETARDATION(HP:0002382), DECREASED BODY HEIGHT(HP:0004322), MICROGNATHIA(HP:0000210), REDUCED NUMBER OF T CELLS(HP:0005403), LOW-SET EARS(HP:0000369), METABOLISM ABNORMALITY(HP:0001939), SINUSITIS(HP:0000246)]
1798	DPAGT1	[TRANSVERSE PALMAR CREASES(HP:0000954), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), MICROGNATHIA(HP:0000210), EXOTROPIA(HP:0000577), MICROCEPHALY(HP:0000252)]
1800	DPEP1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1806	DPYD	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEUROLOGICAL ABNORMALITY(HP:0000707), DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY(HP:0003654)]
1807	DPYS	[METABOLIC ACIDOSIS(HP:0001942), LETHARGY(HP:0001254), SEIZURES(HP:0001250), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SOMNOLENCE(HP:0001262), FEEDING DIFFICULTIES(HP:0002022), DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY(HP:0003654)]
1811	SLC26A3	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ALKALOSIS(HP:0001948), DIARRHEA(HP:0002014), HYPERALDOSTERONISM(HP:0005975), HYPOCHLOREMIA(HP:0003113), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), HYPONATREMIA(HP:0002902), GROWTH ABNORMALITY(HP:0001507), HYPOKALEMIA(HP:0002900)]
1813	DRD2	[REDUCED PENETRANCE(HP:0003830), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TORTICOLLIS(HP:0000473), ANXIETY(HP:0000739), AGORAPHOBIA(HP:0000756), TREMOR(HP:0001337), MYOCLONUS(HP:0001336), DEPRESSION(HP:0000716), ONSET IN CHILDHOOD OR EARLY ADOLESCENCE(HP:0003604), WRITER'S CRAMP(HP:0002356), OBSESSIVE-COMPULSIVE DISORDER(HP:0000722)]
1822	ATN1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CHOREA(HP:0002072), MEAN AGE OF ONSET 18 YEARS(HP:0003628), MYOCLONUS(HP:0001336), CEREBELLAR ATAXIA(HP:0001253), NEURONAL LOSS(HP:0002400), SEIZURES(HP:0001250), METABOLISM ABNORMALITY(HP:0001939), GENETIC ANTICIPATION(HP:0003743), CHOREOATHETOSIS(HP:0001266), DEMYELINATION(HP:0003381), DEMENTIA, PROGRESSIVE(HP:0002274)]
1824	DSC2	[PREMATURE SUDDEN CARDIAC DEATH(HP:0005161), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), VENTRICULAR ARRHYTHMIA(HP:0004308), SYNCOPE(HP:0001279), DYSPNEA(HP:0002094), PALPITATIONS(HP:0001962)]
1828	DSG1	[STREAKS OF HYPERKERATOSIS ALONG EACH FINGER ONTO THE PALM(HP:0007501), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1829	DSG2	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645), CARDIOMYOPATHY(HP:0001638), VENTRICULAR EXTRASYSTOLES(HP:0006682), PALPITATIONS(HP:0001962)]
1832	DSP	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), CARDIOMYOPATHY(HP:0001638), VENTRICULAR EXTRASYSTOLES(HP:0006682), NEONATAL DEATH(HP:0003811), PALMOPLANTAR KERATOSIS WITH ERYTHEMA AND SCALE(HP:0007548), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), NEONATAL TEETH(HP:0000695), SPARSE EYELASHES(HP:0000653), WOOLLY HAIR(HP:0002224), PHIMOSIS(HP:0001741), FAILURE TO THRIVE(HP:0001508), SPARSE EYEBROWS(HP:0000535), TAPERED DISTAL PHALANGES OF THE HAND(HP:0009884), HETEROGENEOUS(HP:0001425), ALOPECIA(HP:0001596), WIDELY SPACED TOES(HP:0008094), NAIL DYSPLASIA(HP:0002164), APLASIA CUTIS CONGENITA(HP:0001057)]
1834	DSPP	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), PULP STONES(HP:0003771), DEAFNESS(HP:0000404), PROGRESSIVE HIGH-FREQUENCY HEARING LOSS(HP:0008584), DENTINOGENESIS IMPERFECTA(HP:0000703), PERIAPICAL RADIOLUCENCIES(HP:0000700), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), SHELL TEETH(HP:0000694), PRIMARY AND SECONDARY TEETH AFFECTED(HP:0001567), TINNITUS(HP:0000360)]
1836	SLC26A2	[KYPHOSCOLIOSIS(HP:0002751), HYPOPLASTIC FEMORAL HEAD(HP:0008802), MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LARYNGOTRACHEAL STENOSIS(HP:0004894), MICROMELIA(HP:0002983), ABDOMINAL DISTENTION(HP:0003270), INGUINAL HERNIA(HP:0000023), SPINAL CORD COMPRESSION(HP:0002176), HIP CONTRACTURES(HP:0003273), ABNORMALITY OF THE VOICE(HP:0001608), CERVICAL KYPHOSIS(HP:0002947), NARROW CHEST(HP:0000774), STILLBORN OR DEATH SHORTLY AFTER BIRTH(HP:0001625), HIP DYSPLASIA(HP:0001385), NEONATAL CYSTIC LESIONS OF THE PINNAE(HP:0008557), BREECH PRESENTATION(HP:0001623), GAP BETWEEN FIRST AND SECOND TOES(HP:0001852), LIMITED ELBOW FLEXION(HP:0006376), SHORT, DUMBBELL FEMUR(HP:0006375), SMALL CHEST(HP:0001590), COSTAL CARTILAGE CALCIFICATION(HP:0006646), SHORT-LIMB DWARFISM IDENTIFIABLE AT BIRTH(HP:0001536), UMBILICAL HERNIA(HP:0001537), POLYHYDRAMNIOS(HP:0001561), SHORT LONG BONES(HP:0003026), HEARING LOSS(HP:0000365), GLABELLAR HEMANGIOMA(HP:0001076), TALIPES EQUINOVARUS(HP:0001762), HYPOPLASTIC ILIA(HP:0000946), HITCHHIKER THUMB(HP:0001234), HYDROPS FETALIS(HP:0001789), PLATYSPONDYLY(HP:0000926), CLEFT PALATE(HP:0000175), ARTHRALGIA(HP:0002829), FLATTENED NASAL BRIDGE(HP:0000425), PULMONARY HYPOPLASIA(HP:0002089), HORIZONTAL SACRUM(HP:0003440), HYPOPLASTIC CERVICAL VERTEBRAE(HP:0008434), RESPIRATORY INSUFFICIENCY(HP:0002093), HETEROGENEOUS(HP:0001425), MILD SHORTENING OF METACARPALS(HP:0006047), SHORT NECK(HP:0000470), ABSENT OR MINIMALLY OSSIFIED VERTEBRAL BODIES(HP:0004599), EPIPHYSEAL DYSPLASIA(HP:0002656), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), LUMBAR HYPERLORDOSIS(HP:0002938), MICROGNATHIA(HP:0000210), FLAT CAPITAL FEMORAL EPIPHYSES(HP:0003370), METABOLISM ABNORMALITY(HP:0001939), MULTIPLE EPIPHYSEAL DYSPLASIA(HP:0002654), HYPERTROPHIC AURICULAR CARTILAGE(HP:0008608)]
1839	HBEGF	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
1861	TOR1A	[KYPHOSIS(HP:0002808), TORSION DYSTONIA(HP:0001304), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TORTICOLLIS(HP:0000473), LORDOSIS(HP:0002939), TREMOR(HP:0001337), MUSCULAR HYPOTONIA(HP:0001252), DYSARTHRIA(HP:0001260), SCOLIOSIS(HP:0002650), ISOLATED FOCAL DYSTONIA MAY OCCUR(HP:0007140), BLEPHAROSPASM(HP:0000643), WRITER'S CRAMP(HP:0002356), HYPERTONIA(HP:0001276), INVOLUNTARY MUSCLE CONTRACTIONS(HP:0004305)]
1863	DYT3	[ABNORMALITY OF THE EYES(HP:0000478), MYOCLONUS(HP:0001336), TORSION DYSTONIA(HP:0001304), CHOREA(HP:0002072), PARKINSONISM(HP:0001300), X-LINKED RECESSIVE INHERITANCE(HP:0001419)]
1890	TYMP	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), DISTAL AMYOTROPHY(HP:0003693), MALABSORPTION(HP:0002024), ABDOMINAL PAIN(HP:0002027), ELECTRON MICROSCOPY SHOWS SUBSARCOLEMMAL ACCUMULATIONS OF ABNORMALLY SHAPED MITOCHONDRIA(HP:0003548), GASTROINTESTINAL DYSMOTILITY(HP:0002579), GASTROPARESIS(HP:0002578), MUSCLE BIOPSY SHOWS MULTIPLE MITOCHONDRIAL DNA (MTDNA) DELETIONS IN MOST CASES(HP:0003801), VOMITING(HP:0002013), LEUKOENCEPHALOPATHY(HP:0002352), HYPODENSITY OF CEREBRAL WHITE MATTER ON MRI(HP:0007103), HYPOKINESIA(HP:0002375), RAGGED-RED MUSCLE FIBERS(HP:0003200), INTERMITTENT DIARRHEA(HP:0002254), DISTAL SENSORY IMPAIRMENT(HP:0002936), WEIGHT LOSS(HP:0001824), AREFLEXIA(HP:0001284), PTOSIS(HP:0000508), MUSCLE BIOPSY SHOWS DECREASED ACTIVITY OF CYTOCHROME C OXIDASE IN MOST CASES(HP:0003734), LACTIC ACIDEMIA(HP:0003128), DISTAL LIMB MUSCLE WEAKNESS(HP:0003497), MITOCHONDRIAL MYOPATHY(HP:0003737), EXTERNAL OPHTHALMOPLEGIA, PROGRESSIVE (PEO)(HP:0000590)]
1893	ECM1	[ABNORMALITY OF THE VOICE(HP:0001608), SEIZURES(HP:0001250), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BILATERAL INTRACRANIAL CALCIFICATIONS(HP:0005671), ABNORMALITY OF THE SKIN(HP:0000951), MEMORY IMPAIRMENT(HP:0002354)]
1896	EDA	[DRY SKIN(HP:0000958), HYPOPLASTIC-ABSENT SEBACEOUS GLANDS(HP:0007411), TAURODONTIA(HP:0000679), OLIGODONTIA(HP:0000677), INTOLERANCE TO HEAT AND FEVER(HP:0002046), CONICAL TEETH(HP:0000698), MICRODONTIA(HP:0000691), PERIORBITAL HYPERPIGMENTATION(HP:0001106), ABNORMALITY OF THE VOICE(HP:0001608), MILD LOCALIZED PIGMENTATION ABNORMALITIES(HP:0007622), NASAL HYPOPLASIA(HP:0003196), FRONTAL BOSSING(HP:0002007), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), HYPODONTIA(HP:0000668), PROMINENT LIPS(HP:0000184), ABSENT EYEBROWS(HP:0002223), HYPOPLASTIC NASAL ALAE(HP:0000430), ABNORMALITY OF THE BREASTS(HP:0000769), DEPRESSED NASAL ROOT AND BRIDGE(HP:0005280), SOFT, THIN SKIN(HP:0001020), PROMINENT SUPRAORBITAL RIDGES(HP:0000336), HYPOPLASTIC-ABSENT ECCRINE SWEAT GLANDS(HP:0007592), KOILONYCHIA(HP:0001598), HYPOPLASIA OF THE MAXILLA(HP:0000327), HYPOTRICHOSIS(HP:0001006), X-LINKED RECESSIVE INHERITANCE(HP:0001419), X-LINKED DOMINANT INHERITANCE(HP:0001423), SMALL CHIN(HP:0000331), RESPIRATORY DIFFICULTIES(HP:0002880), FINE, BRITTLE HAIR(HP:0002299), ANHIDROSIS(HP:0000970), ABSENT OR SCANTY EYELASHES AND EYEBROWS(HP:0004555), HYPOHIDROSIS(HP:0000966), PERIORBITAL WRINKLES(HP:0000607), ECZEMA(HP:0000964)]
1908	EDN3	[ABNORMALITY OF THE MOUTH(HP:0000153), CONGENITAL MEGACOLON(HP:0002251), LOW-SET EARS(HP:0000369), NEUROLOGICAL ABNORMALITY(HP:0000707), POSTERIORLY ROTATED EARS(HP:0000358), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626)]
1909	EDNRA	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PHOTOPHOBIA(HP:0000613), MIGRAINE WITH AURA(HP:0002077), VOMITING(HP:0002013), MIGRAINE WITHOUT AURA(HP:0002083), NAUSEA(HP:0002018), PHONOPHOBIA(HP:0002183)]
1910	EDNRB	[HETEROCHROMIA IRIDIS(HP:0001100), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SPASTIC PARAPARESIS(HP:0002313), DEAFNESS(HP:0000404), DECREASED MYENTERIC AND SUBMUCOSAL GANGLIA IN THE BOWEL(HP:0002596), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), RETINAL DEPIGMENTATION(HP:0001111), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), WHITE EYEBROWS(HP:0002226), DEVELOPMENTAL RETARDATION(HP:0001263), WHITE EYELASHES(HP:0002227), ABNORMAL AUDITORY EVOKED POTENTIALS(HP:0006958), POLYNEUROPATHY(HP:0001271), GROWTH ABNORMALITY(HP:0001507), WHITE FORELOCK(HP:0002211), HETEROGENEOUS(HP:0001425), AUTONOMIC DYSREGULATION(HP:0002271), ALBINISM(HP:0001022), HYPOPIGMENTED SKIN PATCHES(HP:0001053), CONGENITAL MEGACOLON(HP:0002251), NYSTAGMUS(HP:0000639), LEUKODYSTROPHY(HP:0002415)]
1947	EFNB1	[HYPOSPADIAS(HP:0000047), HYPERTELORISM(HP:0000316), JOINT LAXITY(HP:0001388), SHAWL SCROTUM(HP:0000049), ABNORMALITY OF THE BREASTS(HP:0000769), WIDOW'S PEAK(HP:0000349), FACIAL ASYMMETRY(HP:0000324), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), NYSTAGMUS(HP:0000639), EXOTROPIA(HP:0000577), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), GROOVED NAILS(HP:0001811), UMBILICAL HERNIA(HP:0001537), AXILLARY PTERYGIA(HP:0001060), LONGITUDINAL SPLITTING(HP:0001809), CORONAL CRANIOSYNOSTOSIS(HP:0004440), FRAGILE NAILS(HP:0001808), CLAVICLE PSEUDOARTHROSIS(HP:0006612), BROAD HALLUX(HP:0010055), ASYMMETRIC LEG SHORTENING(HP:0005618), TOE SYNDACTYLY(HP:0001770), HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), FRONTAL BOSSING(HP:0002007), DEVELOPMENTAL RETARDATION(HP:0001263), SPRENGEL ANOMALY(HP:0000912), BROAD NASAL ROOT(HP:0000424), CLEFT LIP(HP:0000204), BRACHYDACTYLY(HP:0001156), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), PECTUS EXCAVATUM(HP:0000767), BIFID NASAL TIP(HP:0000456), X-LINKED DOMINANT INHERITANCE(HP:0001423), LOW POSTERIOR HAIRLINE(HP:0002162), TELECANTHUS(HP:0000506), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), BRACHYCEPHALY(HP:0000248), HYPOPLASTIC NASAL TIP(HP:0005278)]
1956	EGFR	[ALVEOLAR CELL CARCINOMA(HP:0006519), RESPIRATORY ABNORMALITY(HP:0002086), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
1959	EGR2	[KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE SEVERITY(HP:0003814), ONSET AT BIRTH(HP:0003577), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), SEGMENTAL DEMYELINATION(HP:0007107), CRANIAL NERVE INVOLVEMENT(HP:0003480), UPPER LIMB INVOLVEMENT MAY OCCUR LATER(HP:0003484), AREFLEXIA(HP:0001284), SEVERELY DECREASED MOTOR NERVE CONDUCTION VELOCITY(HP:0006907), NEONATAL HYPOTONIA(HP:0001319), NEUROPATHY(HP:0003407), PES CAVUS(HP:0001761), HAMMER TOES(HP:0001765), DISTAL AMYOTROPHY(HP:0003693), ARTHROGRYPOSIS MULTIPLEX CONGENITA MAY OCCUR(HP:0005859), SEGMENTAL DEMYELINATION/REMYELINATION ON NERVE BIOPSY(HP:0003425), MOTOR RETARDATION(HP:0001270), HYPOREFLEXIA(HP:0001265), RESPIRATORY INSUFFICIENCY(HP:0002093), HETEROGENEOUS(HP:0001425), INCREASED CSF PROTEIN(HP:0002922), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV) (LESS THAN 38 M/S)(HP:0000760), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), CLAW HAND DEFORMITIES (IN SEVERE CASES)(HP:0001178), SEVERE HYPOMYELINATION ON NERVE BIOPSY(HP:0007012), FOOT DROP(HP:0003377), 'STEPPAGE' GAIT(HP:0003376), ONSET IN FIRST OR SECOND DECADE(HP:0003589), DECREASED NUMBER OF MYELINATED FIBERS(HP:0003380), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383), HYPERTROPHIC NERVE CHANGES(HP:0003382)]
1967	EIF2B1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MACROCEPHALY(HP:0000256), LETHARGY(HP:0001254), COGNITIVE DEFICITS(HP:0002337), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), HYPOMYELINATION(HP:0003429), LEUKOENCEPHALOPATHY, SEVERE(HP:0007073), SPASTICITY(HP:0001257), MEMORY LOSS(HP:0002081), ONSET IN ADULTHOOD(HP:0003581), CESSATION OF HEAD GROWTH IN AFFECTED INFANTS(HP:0004485), DELUSIONS(HP:0000746), PRIMARY GONADAL INSUFFICIENCY(HP:0008193), PERSONALITY CHANGES(HP:0000751), BLINDNESS(HP:0000618), APATHY(HP:0000741), DEVELOPMENTAL REGRESSION(HP:0002376), PREMATURE OVARIAN FAILURE(HP:0008209), GAIT DISTURBANCE(HP:0001288), SECONDARY AMENORRHEA(HP:0000869), EMOTIONAL LABILITY(HP:0000712), DECREASED SERUM PROGESTERONE(HP:0008233), FEVER(HP:0001945), DEMYELINATION(HP:0003381), LATE ONSET(HP:0003584)]
1991	ELANE	[GRANULOCYTOPENIA(HP:0001913), EOSINOPHILIA(HP:0001880), HYPERGAMMAGLOBULINEMIA(HP:0004435), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ACUTE MONOCYTIC LEUKEMIA(HP:0004845), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEUTROPENIA(HP:0001875), ABNORMALITY OF THE MOUTH(HP:0000153), GROWTH ABNORMALITY(HP:0001507), THROMBOCYTOSIS(HP:0001894)]
2002	ELK1	[X-LINKED INHERITANCE(HP:0001417), NEOPLASIA(HP:0002664)]
2006	ELN	[LOOSE, REDUNDANT SKIN(HP:0001582), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PULMONARY ARTERY STENOSIS(HP:0004415), AORTIC INSUFFICIENCY(HP:0001659), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), PERIPHERAL ARTERIAL STENOSIS(HP:0004928), INGUINAL HERNIA(HP:0000023), ABNORMALITY OF THE FACE(HP:0000271), MITRAL REGURGITATION(HP:0001653), EMPHYSEMA(HP:0002097), SUPRAVALVULAR AORTIC STENOSIS(HP:0004381)]
2010	EMD	[ELBOW CONTRACTURES(HP:0002987), WEAKNESS(HP:0002309), ACHILLES TENDON CONTRACTURES(HP:0001771), DECREASED CERVICAL SPINE FLEXION DUE TO CONTRACTURES OF POSTERIOR CERVICAL MUSCLES(HP:0004631), MYOPATHY(HP:0003198), SLOW PROGRESSION(HP:0003677), GENERALIZED MUSCLE WEAKNESS(HP:0003324), ONSET IN ADULTHOOD(HP:0003581), ONSET IN CHILDHOOD(HP:0003578), SUDDEN DEATH(HP:0001699), ABNORMALITY OF THE NECK(HP:0000464), X-LINKED RECESSIVE INHERITANCE(HP:0001419), WADDLING GAIT(HP:0002515), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), ABNORMALITY OF THE CARDIAC ATRIA(HP:0005120), ATRIOVENTRICULAR BLOCK(HP:0001678), INTEROSSEUS MUSCLE ATROPHY(HP:0007181), INCREASED SERUM CREATINE KINASE(HP:0002147), ATRIAL ARRHYTHMIAS(HP:0001692)]
2022	ENG	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SPONTANEOUS, RECURRENT EPISTAXIS(HP:0004406), HEPATIC ARTERIOVENOUS MALFORMATION(HP:0006574), ERYTHROCYTOSIS(HP:0001901), ANEMIA(HP:0001903), CONJUNCTIVAL TELANGIECTASIA(HP:0000524), CIRRHOSIS(HP:0001394), PALATE TELANGIECTASIA(HP:0002707), PULMONARY ARTERIOVENOUS MALFORMATION(HP:0006548), MELENA(HP:0002249), HEMATEMESIS(HP:0002248), CLUBBING(HP:0001217), CELIAC DISEASE(HP:0002608), FINGERPAD TELANGIECTASES(HP:0006107), MIGRAINE(HP:0002076), NAIL BED TELANGIECTASES(HP:0001232), TRANSIENT ISCHEMIC ATTACK(HP:0002326), TELANGIECTASES (STOMACH, DUODENUM, SMALL BOWEL, COLON)(HP:0002604), SEIZURES(HP:0001250), NASAL MUCOSA TELANGIECTASES(HP:0000434), HEMATOCHEZIA(HP:0002573), DYSPNEA(HP:0002094), HETEROGENEOUS(HP:0001425), ISCHEMIC STROKE(HP:0002140), GASTROINTESTINAL ANGIODYSPLASIA(HP:0000471), SUBARACHNOID HEMORRHAGE(HP:0002138), SPINAL ARTERIOVENOUS MALFORMATION(HP:0002390), LIP TELANGIECTASES(HP:0000214), HIGH-OUTPUT CONGESTIVE HEART FAILURE(HP:0001722), ARTERIOVENOUS FISTULAS OF CELIAC AND MESENTERIC VESSELS(HP:0002642), CEREBRAL ARTERIOVENOUS MALFORMATION(HP:0002408), TONGUE TELANGIECTASES(HP:0000227), VENOUS VARICOSITIES OF CELIAC AND MESENTERIC VESSELS(HP:0002626), GASTROINTESTINAL ARTERIOVENOUS MALFORMATION(HP:0002629), CYANOSIS(HP:0000961), RIGHT-TO-LEFT SHUNT(HP:0001694), ARTERIAL ANEURYSM OF CELIAC AND MESENTERIC VESSELS(HP:0002636)]
2027	ENO3	[ELEVATED CREATINE KINASE AFTER EXERCISE(HP:0008331), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYALGIA(HP:0003326), MUSCLE WEAKNESS(HP:0001324), INCREASED SERUM CREATINE KINASE(HP:0002147), ONSET IN ADULTHOOD(HP:0003581)]
2033	EP300	[DELAYED SKELETAL MATURATION(HP:0002750), PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DEVIATED NASAL SEPTUM(HP:0004411), THICK EYEBROWS(HP:0000574), CRYPTORCHIDISM(HP:0000028), CHORIORETINAL DYSTROPHY(HP:0001135), CATARACT(HP:0000518), FRONTAL HAIR UPSWEEP(HP:0002236), LONG EYELASHES(HP:0000527), HYPOSPADIAS(HP:0000047), LARGE FORAMEN MAGNUM(HP:0002700), SHAWL SCROTUM(HP:0000049), VENTRICULAR SEPTAL DEFECT(HP:0001629), PARIETAL FORAMINA(HP:0002697), SPINA BIFIDA OCCULTA(HP:0003298), ATRIAL SEPTAL DEFECT(HP:0001631), HIGHLY ARCHED EYEBROWS(HP:0001584), NASOLACRIMAL DUCT OBSTRUCTION(HP:0000579), COLOBOMA(HP:0000589), PLANTAR CREASE BETWEEN FIRST AND SECOND TOES(HP:0008107), PES PLANUS(HP:0001763), DENTAL OVERCROWDING(HP:0000678), HIGH-ARCHED PALATE(HP:0000156), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), SMALL, FLARED ILIAC WINGS(HP:0003181), ENOPHTHALMOS(HP:0000663), AGENESIS OF CORPUS CALLOSUM(HP:0001274), SYNDACTYLY(HP:0001159), POLYDACTYLY (HANDS)(HP:0001161), SHORT ATTENTION SPAN(HP:0000736), ABNORMALITY OF THE STERNUM(HP:0000766), MICROGNATHIA(HP:0000210), LOW POSTERIOR HAIRLINE(HP:0002162), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), PROMINENT FINGERTIP PADS(HP:0001212), RETROGNATHIA(HP:0000278), EPICANTHUS(HP:0000286), WIDE ANTERIOR FONTANEL(HP:0000260), DISLOCATION OF PATELLA(HP:0002999), DELAYED CLOSURE OF FONTANELLES(HP:0000270), HYPERREFLEXIA(HP:0001347), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), POOR SPEECH(HP:0002465), LOW FRONTAL HAIRLINE(HP:0000294), JOINT HYPERMOBILITY(HP:0001382), HYPOPLASIA OF THE MAXILLA(HP:0000327), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), LOW-SET EARS(HP:0000369), ABNORMAL FORM OF EARS(HP:0000377), HEARING LOSS(HP:0000365), BROAD HALLUX(HP:0010055), CAFE-AU-LAIT SPOTS(HP:0000957), TRANSVERSE PALMAR CREASES(HP:0000954), UNSTEADY GAIT(HP:0002317), CONSTIPATION(HP:0002019), BROAD PHALANGES OF THE THUMB(HP:0009651), COLUMELLA, SHORT(HP:0002000), BEAKED NOSE(HP:0000444), FRONTAL BOSSING(HP:0002007), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716), EEG ABNORMALITIES(HP:0002353), BROAD NASAL BRIDGE(HP:0000431), POOR COORDINATION(HP:0002370), TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), DECREASED BODY HEIGHT(HP:0004322), HIRSUTISM(HP:0001007), INCREASED RISK OF LEUKEMIA(HP:0006726), CAPILLARY HEMANGIOMAS(HP:0005306), PTOSIS(HP:0000508), GLAUCOMA(HP:0000501), UTERINE LEIOMYOSARCOMA(HP:0002891), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486)]
2038	EPB42	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEMOLYTIC ANEMIA(HP:0001878), JAPANESE TYPE HEREDITARY SPHEROCYTOSIS(HP:0004816)]
2040	STOM	[INCREASED RED CELL OSMOTIC FRAGILITY(HP:0005502), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), STOMATOCYTOSIS(HP:0004446), HEMOLYTIC ANEMIA(HP:0001878), PALLOR(HP:0000980), INCREASED INTRACELLULAR SODIUM(HP:0003575)]
2052	EPHX1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
2055	CLN8	[GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CLUMSINESS(HP:0002312), AUTOFLUORESCENT LIPOPIGMENT IN NEURONS(HP:0002074), SLOW PROGRESSION(HP:0003677), ATAXIA(HP:0001251), MENTAL RETARDATION BY AGE 30 YEARS(HP:0006833), EEG ABNORMALITIES(HP:0002353), MENTAL DETERIORATION(HP:0001268), PROGRESSIVE VISUAL LOSS(HP:0000529), CEREBELLAR ATROPHY, PROGRESSIVE(HP:0002364), IRRITABILITY(HP:0000737), DEVELOPMENTAL REGRESSION(HP:0002376), 'CURVILINEAR' PROFILES ULTRASTRUCTURALLY(HP:0003205), COMPLEX PARTIAL SEIZURES(HP:0002384), SPEECH AND LANGUAGE DIFFICULTIES(HP:0002399), MYOCLONUS(HP:0001336), RESTLESSNESS(HP:0000711), CEREBRAL ATROPHY, PROGRESSIVE(HP:0002422)]
2064	ERBB2	[CHRONIC ATROPHIC GASTRITIS(HP:0002582), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GLIOMA(HP:0009733), ALVEOLAR CELL CARCINOMA(HP:0006519), RESPIRATORY ABNORMALITY(HP:0002086)]
2065	ERBB3	[AKINESIA(HP:0002304), DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEUROGENIC MUSCLE ATROPHY(HP:0003702), RESPIRATORY FAILURE IN INFANCY(HP:0004877), SEVERE MYOPIA (> -6.00 DIOPTERS)(HP:0000569), ARTHROGRYPOSIS(HP:0001390), VENTRICULAR SEPTAL DEFECT(HP:0001629), DEGENERATIVE VITREORETINOPATHY(HP:0007964), MICROGNATHIA(HP:0000210), POLYHYDRAMNIOS(HP:0001561), HYDRONEPHROSIS(HP:0000126), DECREASED FETAL MOVEMENT(HP:0001558)]
2068	ERCC2	[XERODERMA PIGMENTOSUM(HP:0007415), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ICHTHYOSIS(HP:0000955), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOGONADISM(HP:0000135), ABNORMALITY OF HAIR TEXTURE(HP:0010719), FRECKLING(HP:0001480), ASTHMA(HP:0002099), CATARACT(HP:0000518), RECURRENT INFECTIONS(HP:0002719), ATAXIA(HP:0001251), MENTAL RETARDATION(HP:0001249), SPASTICITY(HP:0001257), LACK OF SUBCUTANEOUS FATTY TISSUE(HP:0007519), MENTAL DETERIORATION(HP:0001268), INTESTINAL OBSTRUCTION(HP:0005214), CHOREOATHETOSIS(HP:0001266), HYPOREFLEXIA(HP:0001265), LOW BIRTH WEIGHT(HP:0001518), ECTROPION(HP:0000656), DERMAL ATROPHY(HP:0004334), ERYTHRODERMA(HP:0001019), COLLODION BABY(HP:0001021), PHOTOPHOBIA(HP:0000613), TELANGIECTASIA(HP:0001009), DECREASED BODY HEIGHT(HP:0004322), POIKILODERMA(HP:0001029), ENTROPION(HP:0000621), CONGENITAL ICHTHYOSIS(HP:0007484), ABNORMALITY OF THE THORAX(HP:0000765), PHOTOSENSITIVITY(HP:0000992), LOW INTELLIGENCE(HP:0001286), DEFECTIVE DNA REPAIR AFTER ULTRAVIOLET RADIATION DAMAGE(HP:0003079), CONJUNCTIVITIS(HP:0000509), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA(HP:0007431), AGED LEONINE APPEARANCE(HP:0008509), FRAGILE NAILS(HP:0001808), MICROCEPHALY(HP:0000252), EARLY ONSET(HP:0003593), KERATITIS(HP:0000491), DECREASED IGG LEVEL(HP:0004315), GENITAL HYPOPLASIA(HP:0003241), LATE ONSET(HP:0003584)]
2070	EYA4	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
2071	ERCC3	[XERODERMA PIGMENTOSUM(HP:0007415), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF HAIR TEXTURE(HP:0010719), HYPERREFLEXIA(HP:0001347), MICROPHTHALMOS(HP:0000568), CATARACT(HP:0000518), RECURRENT INFECTIONS(HP:0002719), INTESTINAL OBSTRUCTION(HP:0005214), INCREASED CELLULAR SENSITIVITY TO UV LIGHT(HP:0003224), ABNORMAL MYELINATION(HP:0002520), WIZENED FACE(HP:0000335), PIGMENTARY RETINOPATHY(HP:0000580), AGED LEONINE APPEARANCE(HP:0008509), FRAGILE NAILS(HP:0001808), ICHTHYOSIS(HP:0000955), SQUAMOUS CELL CARCINOMA(HP:0002860), MALIGNANT MELANOMA(HP:0002861), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOGONADISM(HP:0000135), FRECKLING(HP:0001480), ASTHMA(HP:0002099), ATAXIA(HP:0001251), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), LACK OF SUBCUTANEOUS FATTY TISSUE(HP:0007519), LOW BIRTH WEIGHT(HP:0001518), CEREBELLAR ATROPHY(HP:0001272), DERMAL ATROPHY(HP:0004334), BASAL GANGLIA CALCIFICATION(HP:0002135), ERYTHRODERMA(HP:0001019), INCREASED RISK OF MALIGNANCY(HP:0006741), COLLODION BABY(HP:0001021), DECREASED BODY HEIGHT(HP:0004322), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), VENTRICULOMEGALY(HP:0002119), ABNORMALITY OF THE THORAX(HP:0000765), PHOTOSENSITIVITY(HP:0000992), BASAL CELL CARCINOMA(HP:0002671), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA(HP:0007431), MICROCEPHALY(HP:0000252), DECREASED IGG LEVEL(HP:0004315)]
2072	ERCC4	[XERODERMA PIGMENTOSUM(HP:0007415), ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925), ABNORMALITY OF THE PANCREAS(HP:0001732), ABNORMALITY OF THE LARYNX(HP:0001600), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), ABNORMALITY OF THE SPLEEN(HP:0001743), ABNORMALITY OF THE TEETH(HP:0000164), ABNORMALITY OF THE DIAPHRAGM(HP:0000775), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), GROWTH ABNORMALITY(HP:0001507), ABNORMALITY OF THE BREASTS(HP:0000769), ABNORMALITY OF THE EYES(HP:0000478), ABNORMALITY OF THE URETERS(HP:0000069), ABNORMALITY OF THE HAND(HP:0001155), NUMEROUS PIGMENTED FRECKLES(HP:0007587), ABNORMALITY OF THE NECK(HP:0000464), ABNORMALITY OF THE NAILS(HP:0001597), HAIR ABNORMALITY(HP:0001595), PHOTOSENSITIVITY(HP:0000992), DEFECTIVE DNA REPAIR AFTER ULTRAVIOLET RADIATION DAMAGE(HP:0003079), ABNORMALITY OF THE PELVIS(HP:0002644), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), NEUROLOGICAL ABNORMALITY(HP:0000707), BILIARY TRACT ABNORMALITY(HP:0001080), ABNORMALITY OF THE EARS(HP:0000598)]
2073	ERCC5	[XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G(HP:0006736), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEFECTIVE DNA REPAIR AFTER ULTRAVIOLET RADIATION DAMAGE(HP:0003079)]
2074	ERCC6	[KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPLASIA OF THE IRIS(HP:0007676), SMALL, SQUARED OFF PELVIS(HP:0003278), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), PIGMENTATION ANOMALIES OF SUN-EXPOSED SKIN(HP:0007623), CATARACT(HP:0000518), CORNEAL CLOUDING(HP:0000515), MICROPENIS(HP:0000054), HYPERMETROPIA(HP:0000540), PHOTOPHOBIA(HP:0000613), INCREASED CELLULAR SENSITIVITY TO UV LIGHT(HP:0003224), POIKILODERMA(HP:0001029), ENTROPION(HP:0000621), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), REDUCED SUBCUTANEOUS ADIPOSE TISSUE(HP:0003758), DECREASED LACRIMATION(HP:0000633), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), PIGMENTARY RETINOPATHY(HP:0000580), BLEPHAROPHIMOSIS(HP:0000581), SECOND METATARSAL POSTERIORLY PLACED(HP:0008125), WIDE INTERMAMILLARY DISTANCE(HP:0006610), DELAYED ERUPTION OF DECIDUOUS TEETH(HP:0000680), DISTURBED VISUAL AND BRAINSTEM AUDITORY EVOKED RESPONSES INDICATIVE OF CNS DEMYELINATION(HP:0003151), CEREBRAL ATROPHY(HP:0002059), ABSENT/HYPOPLASTIC TEETH(HP:0000688), DENTAL MALOCCLUSION(HP:0000689), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), PREMATURELY AGED APPEARANCE(HP:0007495), SPASTICITY(HP:0001257), SPLENOMEGALY(HP:0001744), POLYNEUROPATHY(HP:0001271), CARIOUS TEETH(HP:0000670), MENTAL DETERIORATION(HP:0001268), CHOREOATHETOSIS(HP:0001266), HYPOREFLEXIA(HP:0001265), AGENESIS OF CORPUS CALLOSUM(HP:0001274), ECTROPION(HP:0000656), COXA VALGA(HP:0002673), BASAL GANGLIA CALCIFICATION(HP:0002135), MILD TO MODERATE JOINT LIMITATION(HP:0003101), THICKENED CALVARIA(HP:0002684), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), NEOPLASIA(HP:0002664), MICROGNATHIA(HP:0000210), DEFECTIVE DNA REPAIR AFTER ULTRAVIOLET RADIATION DAMAGE(HP:0003079), ABNORMAL MYELINATION IN SURAL NERVE BIOPSIES(HP:0003130), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), MICROCEPHALY(HP:0000252), EARLY ONSET(HP:0003593), HYPERTENSION(HP:0000822), ELBOW CONTRACTURES(HP:0002987), KNEE CONTRACTURES(HP:0002978), LOSS OF FACIAL ADIPOSE TISSUE(HP:0000292), MANDIBULAR PROGNATHIA(HP:0000303), LONG PHILTRUM(HP:0000343), SUBCORTICAL WHITE MATTER CALCIFICATIONS(HP:0007346), SLOPING FOREHEAD(HP:0000340), LONGITUDINAL GROOVE ON SOLES(HP:0004681), CEREBELLAR CALCIFICATIONS(HP:0007352), DYSMYELINATION(HP:0003469), WIZENED FACE(HP:0000335), LOW INTELLIGENCE(HP:0001286), AREFLEXIA(HP:0001284), TREMOR(HP:0001337), ABNORMAL FORM OF EARS(HP:0000377), CEREBELLAR HYPOPLASIA(HP:0001321), PATCHY DEMYELINATION OF SUBCORTICAL WHITE MATTER(HP:0002545), CEREBRAL AND OLIVOPONTOCEREBELLAR ATROPHY(HP:0005683), DRY SKIN(HP:0000958), CAMPTODACTYLY (HANDS)(HP:0010563), WEAKNESS(HP:0002309), HEARING LOSS, SENSORINEURAL(HP:0000407), OSTEOPOROSIS(HP:0000939), HYPOPLASTIC ILIAC WINGS(HP:0002866), FRECKLING(HP:0001480), SEVERE FAILURE TO THRIVE(HP:0001525), NORMAL PRESSURE HYDROCEPHALUS(HP:0002343), PROMINENT NASAL ROOT(HP:0000432), INTRAUTERINE GROWTH RETARDATION(HP:0001511), SLENDER NOSE(HP:0000417), LOW BIRTH WEIGHT(HP:0001518), DERMAL ATROPHY(HP:0004334), CACHECTIC DWARFISM(HP:0001424), HETEROGENEOUS(HP:0001425), IVORY EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010234), TELANGIECTASIA(HP:0001009), INFANTILE SEIZURES(HP:0002391), HIRSUTISM(HP:0001007), CONGENITAL VERTICAL TALUS(HP:0010218), PHOTOSENSITIVITY(HP:0000992), ATYPICAL SCARRING(HP:0000987), CONJUNCTIVITIS(HP:0000509), GONADAL HYPOPLASIA(HP:0008639), ANHIDROSIS(HP:0000970), KERATITIS(HP:0000491), DEEP SET EYES(HP:0000490), STRABISMUS(HP:0000486), MICROCORNEA(HP:0000482)]
2108	ETFA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GLUTARIC ACIDEMIA(HP:0003530), MACROCEPHALY(HP:0000256), SELECTIVE PROXIMAL TUBULAR DAMAGE(HP:0000806), WIDE ANTERIOR FONTANEL(HP:0000260), RENAL CORTICAL CYSTS(HP:0000803), NEONATAL DEATH FREQUENT(HP:0003820), CONGENITAL CATARACT(HP:0000519), ETHYLMALONIC ACIDURIA(HP:0003219), ABNORMALITY OF THE GENITAL TRACT(HP:0000078), HIGH FOREHEAD(HP:0000348), PACHYGYRIA(HP:0001302), FATTY INFILTRATION OF LIVER(HP:0002252), HEPATOMEGALY(HP:0002240), DEFECTIVE DEHYDROGENATION OF ISOVALERYL COA AND BUTYRYL COA(HP:0003490), ABNORMAL FORM OF EARS(HP:0000377), MUSCLE WEAKNESS(HP:0001324), HYPOGLYCEMIC COMA(HP:0001325), POLYCYSTIC KIDNEY(HP:0000113), HEPATIC PERIPORTAL NECROSIS(HP:0002614), JAUNDICE(HP:0000952), GLUTARIC ACIDURIA(HP:0003150), NAUSEA(HP:0002018), RESPIRATORY DISTRESS(HP:0002098), MUSCULAR HYPOTONIA(HP:0001252), VOMITING(HP:0002013), FLATTENED NASAL BRIDGE(HP:0000425), PULMONARY HYPOPLASIA(HP:0002089), FACIAL DYSMORPHISM(HP:0001999), ELECTRON TRANSFER FLAVOPROTEIN-UBIQUINONE OXIDOREDUCTASE DEFECT(HP:0003647), GLYCOSURIA(HP:0003076), HYPOGLYCEMIA(HP:0001943), TELECANTHUS(HP:0000506), GLIOSIS(HP:0002171), GENERALIZED AMINOACIDURIA(HP:0002909)]
2109	ETFB	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GLUTARIC ACIDEMIA(HP:0003530), MACROCEPHALY(HP:0000256), SELECTIVE PROXIMAL TUBULAR DAMAGE(HP:0000806), WIDE ANTERIOR FONTANEL(HP:0000260), RENAL CORTICAL CYSTS(HP:0000803), NEONATAL DEATH FREQUENT(HP:0003820), CONGENITAL CATARACT(HP:0000519), ETHYLMALONIC ACIDURIA(HP:0003219), ABNORMALITY OF THE GENITAL TRACT(HP:0000078), HIGH FOREHEAD(HP:0000348), PACHYGYRIA(HP:0001302), FATTY INFILTRATION OF LIVER(HP:0002252), HEPATOMEGALY(HP:0002240), DEFECTIVE DEHYDROGENATION OF ISOVALERYL COA AND BUTYRYL COA(HP:0003490), ABNORMAL FORM OF EARS(HP:0000377), MUSCLE WEAKNESS(HP:0001324), HYPOGLYCEMIC COMA(HP:0001325), POLYCYSTIC KIDNEY(HP:0000113), HEPATIC PERIPORTAL NECROSIS(HP:0002614), JAUNDICE(HP:0000952), GLUTARIC ACIDURIA(HP:0003150), NAUSEA(HP:0002018), RESPIRATORY DISTRESS(HP:0002098), MUSCULAR HYPOTONIA(HP:0001252), VOMITING(HP:0002013), FLATTENED NASAL BRIDGE(HP:0000425), PULMONARY HYPOPLASIA(HP:0002089), FACIAL DYSMORPHISM(HP:0001999), ELECTRON TRANSFER FLAVOPROTEIN-UBIQUINONE OXIDOREDUCTASE DEFECT(HP:0003647), GLYCOSURIA(HP:0003076), HYPOGLYCEMIA(HP:0001943), TELECANTHUS(HP:0000506), GLIOSIS(HP:0002171), GENERALIZED AMINOACIDURIA(HP:0002909)]
2110	ETFDH	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GLUTARIC ACIDEMIA(HP:0003530), SELECTIVE PROXIMAL TUBULAR DAMAGE(HP:0000806), MACROCEPHALY(HP:0000256), WIDE ANTERIOR FONTANEL(HP:0000260), RENAL CORTICAL CYSTS(HP:0000803), NEONATAL DEATH FREQUENT(HP:0003820), CONGENITAL CATARACT(HP:0000519), ETHYLMALONIC ACIDURIA(HP:0003219), ABNORMALITY OF THE GENITAL TRACT(HP:0000078), HIGH FOREHEAD(HP:0000348), PACHYGYRIA(HP:0001302), FATTY INFILTRATION OF LIVER(HP:0002252), HEPATOMEGALY(HP:0002240), DEFECTIVE DEHYDROGENATION OF ISOVALERYL COA AND BUTYRYL COA(HP:0003490), ABNORMAL FORM OF EARS(HP:0000377), MUSCLE WEAKNESS(HP:0001324), HYPOGLYCEMIC COMA(HP:0001325), POLYCYSTIC KIDNEY(HP:0000113), HEPATIC PERIPORTAL NECROSIS(HP:0002614), JAUNDICE(HP:0000952), GLUTARIC ACIDURIA(HP:0003150), NAUSEA(HP:0002018), RESPIRATORY DISTRESS(HP:0002098), MUSCULAR HYPOTONIA(HP:0001252), VOMITING(HP:0002013), FLATTENED NASAL BRIDGE(HP:0000425), PULMONARY HYPOPLASIA(HP:0002089), FACIAL DYSMORPHISM(HP:0001999), ELECTRON TRANSFER FLAVOPROTEIN-UBIQUINONE OXIDOREDUCTASE DEFECT(HP:0003647), GLYCOSURIA(HP:0003076), HYPOGLYCEMIA(HP:0001943), TELECANTHUS(HP:0000506), GLIOSIS(HP:0002171), GENERALIZED AMINOACIDURIA(HP:0002909)]
2115	ETV1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
2120	ETV6	[FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
2121	EVC	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CRYPTORCHIDISM(HP:0000028), EPISPADIAS(HP:0000039), HYPOSPADIAS(HP:0000047), NARROW CHEST(HP:0000774), SHORT RIBS(HP:0000773), PECTUS CARINATUM(HP:0000768), ATRIAL SEPTAL DEFECT(HP:0001631), DANDY-WALKER MALFORMATION(HP:0001305), SINGLE CENTRAL INCISOR(HP:0001573), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), POSTAXIAL POLYDACTYLY (FEET)(HP:0001830), POSTAXIAL POLYDACTYLY FINGERS/TOES(HP:0004698), SHORT-LIMB DWARFISM IDENTIFIABLE AT BIRTH(HP:0001536), MILD SHORT STATURE(HP:0003502), HYPOTELORISM(HP:0000601), IRREGULAR, SMALL, OR ABSENT INCISORS(HP:0006340), RENAL TUBULAR DYSFUNCTION(HP:0000124), NAIL HYPOPLASIA(HP:0001792), TALIPES EQUINOVARUS(HP:0001762), DELAYED DENTITION(HP:0000684), GENU VALGUM(HP:0002857), PROMINENT ANTIHELIX(HP:0000395), CONICAL TEETH(HP:0000698), NEONATAL TEETH(HP:0000695), CAPITATE-HAMATE FUSION(HP:0001241), MENTAL RETARDATION(HP:0001249), HYPODONTIA(HP:0000668), SHORT, THICKENED TUBULAR BONES(HP:0005029), CONE-SHAPED EPIPHYSES OF PHALANGES 2 TO 5(HP:0006035), SMALL HANDS(HP:0001165), NAIL DYSPLASIA(HP:0002164), ABNORMALITY OF THE PELVIS(HP:0002644), MILD BRACHYDACTYLY(HP:0001189), ABNORMALITY OF THE ALVEOLAR RIDGES(HP:0006477)]
2130	EWSR1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PERIPHERAL NEUROEPITHELIOMA(HP:0006717)]
2131	EXT1	[PERIPHERAL NERVE COMPRESSION(HP:0003406), ABNORMALITY OF THE FEET(HP:0001760), COXA VARA(HP:0002812), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SCAPULAR EXOSTOSES(HP:0000918), DECREASED BODY HEIGHT(HP:0004322), CERVICAL MYELOPATHY(HP:0002318), GENU VALGUM(HP:0002857), MADELUNG-LIKE FOREARM DEFORMITIES(HP:0003068), ONSET IN EARLY CHILDHOOD(HP:0003580), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), PELVIC EXOSTOSES(HP:0003276), PROTUBERANCES AT ENDS OF LONG BONES(HP:0003105), INCREASED RISK OF CHONDROSARCOMA(HP:0006765), RIB EXOSTOSES(HP:0000896)]
2132	EXT2	[PERIPHERAL NERVE COMPRESSION(HP:0003406), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CERVICAL MYELOPATHY(HP:0002318), GENU VALGUM(HP:0002857), PELVIC EXOSTOSES(HP:0003276), SCAPULAR EXOSTOSES(HP:0000918), ONSET IN EARLY CHILDHOOD(HP:0003580), RIB EXOSTOSES(HP:0000896), COXA VARA(HP:0002812), DECREASED BODY HEIGHT(HP:0004322), MADELUNG-LIKE FOREARM DEFORMITIES(HP:0003068), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), PROTUBERANCES AT ENDS OF LONG BONES(HP:0003105), INCREASED RISK OF CHONDROSARCOMA(HP:0006765)]
2138	EYA1	[MIXED HEARING LOSS(HP:0000410), CONGENITAL HIP DISLOCATION(HP:0001374), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), VARIABLE EXPRESSIVITY(HP:0003828), LONG FACE(HP:0000276), INCOMPLETE PENETRANCE(HP:0003829), STENOTIC EXTERNAL AUDITORY CANAL(HP:0000402), ABNORMALITY OF THE RENAL COLLECTING SYSTEM(HP:0004742), SCAPULAR WINGING(HP:0003691), MICROTIA(HP:0000393), HIGH-ARCHED PALATE(HP:0000156), PREAURICULAR SKIN TAG(HP:0000384), ABNORMALITY OF THE CEREBRUM(HP:0002060), MICRODONTIA(HP:0000691), CLEFT PALATE(HP:0000175), LACRIMAL DUCT APLASIA OR STENOSIS(HP:0007925), FATTY KIDNEYS(HP:0000799), MENTAL RETARDATION, MILD(HP:0001256), LONG, NARROW FACIES(HP:0000318), INTESTINAL MALROTATION(HP:0002566), MILD MANDIBULAR PROGNATHISM(HP:0004656), HETEROGENEOUS(HP:0001425), LONG NECK(HP:0000472), PREAURICULAR SINUS(HP:0004467), VESICOURETERAL REFLUX(HP:0000076), BIFID UVULA(HP:0000193), FACIAL MUSCLE WEAKNESS(HP:0010628), NARROW NOSE(HP:0000460), CRANIAL NERVE VII PALSY(HP:0007212), LACRIMATION ABNORMALITY(HP:0000632), BULBOUS INTERNAL AUDITORY CANAL(HP:0004458), BRANCHIAL FISTULA(HP:0009795), MALROTATION OF THE KIDNEY(HP:0004712), EUTHYROID GOITER(HP:0009798), MONDINI MALFORMATION(HP:0000376), BRANCHIAL CYST(HP:0009796), CHOLESTEATOMA(HP:0009797), CUP-SHAPED EARS(HP:0000378), RENAL DYSPLASIA/APLASIA(HP:0004721), HYPOPLASTIC PINNAE(HP:0008621), POLYCYSTIC KIDNEY(HP:0000113), SLOPING SHOULDERS(HP:0001556)]
2147	F2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BLEEDING DIATHESIS(HP:0001892)]
2153	F5	[PROLONGED PARTIAL THROMBOPLASTIN TIME(HP:0003645), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACTOR V DEFICIENCY(HP:0003225), MENORRHAGIA(HP:0000132), WHOLE-BLOOD CLOTTING TIME PROLONGED(HP:0005542), BLEEDING DIATHESIS(HP:0001892), PROLONGED BLEEDING TIME(HP:0003010), EPISTAXIS(HP:0000421)]
2155	F7	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACTOR VII DEFICIENCY(HP:0008169), BLEEDING DIATHESIS(HP:0001892)]
2157	F8	[PROLONGED PARTIAL THROMBOPLASTIN TIME(HP:0003645), ECCHYMOSES(HP:0000978), FACTOR VIII DEFICIENCY(HP:0003125), HEMARTHROSES(HP:0001391), X-LINKED RECESSIVE INHERITANCE(HP:0001419), PERSISTENT BLEEDING AFTER TRAUMA(HP:0001934), BLEEDING DIATHESIS(HP:0001892), DEGENERATIVE JOINT DISEASE(HP:0001379)]
2158	F9	[PROLONGED PARTIAL THROMBOPLASTIN TIME(HP:0003645), GASTROINTESTINAL HEMORRHAGE(HP:0002239), ABNORMALITY OF THE SKIN(HP:0000951), PROLONGED WHOLE-BLOOD CLOTTING TIME IN SEVERE HEMOPHILIA(HP:0003229), HEMARTHROSES(HP:0001391), X-LINKED RECESSIVE INHERITANCE(HP:0001419), PERSISTENT BLEEDING AFTER TRAUMA(HP:0001934), BLEEDING DIATHESIS(HP:0001892), DEGENERATIVE JOINT DISEASE(HP:0001379)]
2159	F10	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACTOR X DEFICIENCY(HP:0008321), MENORRHAGIA(HP:0000132), PROLONGED PROTHROMBIN AND PARTIAL THROMBOPLASTIN TIMES(HP:0008151), BLEEDING DIATHESIS(HP:0001892), ABNORMALITY OF MUSCULATURE(HP:0003011), INTRACRANIAL HEMORRHAGE(HP:0002170), GINGIVAL BLEEDING(HP:0000225), HEMARTHROSES(HP:0001391), EPISTAXIS(HP:0000421)]
2160	F11	[ABNORMAL PROTHROMBIN CONSUMPTION(HP:0003337), SEVERE PROTRACTED BLEEDING AFTER SURGERY(HP:0004846), SPONTANEOUS, RECURRENT EPISTAXIS(HP:0004406), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ECCHYMOSES(HP:0000978)]
2161	F12	[PROLONGED PARTIAL THROMBOPLASTIN TIME(HP:0003645), FACTOR XII DEFICIENCY(HP:0004841), WHOLE-BLOOD CLOTTING TIME PROLONGED(HP:0005542), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
2162	F13A1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BLEEDING DIATHESIS(HP:0001892), OLIGOSPERMIA(HP:0000798), INTRACRANIAL HEMORRHAGE(HP:0002170), HEMARTHROSES(HP:0001391), DECREASED TESTICULAR SIZE(HP:0008734)]
2165	F13B	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BLEEDING DIATHESIS(HP:0001892)]
2175	FANCA	[LEUKEMIA(HP:0001909), RETICULOCYTOPENIA(HP:0001896), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), BLEEDING DIATHESIS(HP:0001892), APLASIA OF THE THUMB(HP:0009777), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), HYPOPLASTIC/SMALL THUMB(HP:0009778), NEUTROPENIA(HP:0001875), PANCYTOPENIA(HP:0001876), KIDNEY MALFORMATION(HP:0000792), CHROMOSOMAL BREAKAGE INDUCED BY DIEPOXYBUTANE (DEB), AND MITOMYCIN C(HP:0003221), HORSESHOE KIDNEY(HP:0000085), ECTOPIC KIDNEY(HP:0000086), DUPLICATED COLLECTING SYSTEM(HP:0000081), DEFICIENT EXCISION OF UV-INDUCED PYRIMIDINE DIMERS IN DNA(HP:0003213), PROLONGED G2 PHASE OF CELL CYCLE(HP:0003214), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), RENAL AGENESIS(HP:0000104), CAFE-AU-LAIT SPOTS(HP:0000957), HYPERPIGMENTATION(HP:0000953), DEAFNESS(HP:0000404), MENTAL RETARDATION(HP:0001249), CARDIAC MALFORMATION(HP:0002564), LOW BIRTH WEIGHT(HP:0001518), ANEMIC PALLOR(HP:0001017), MULTIPLE CHROMOSOMAL BREAKS(HP:0002915), DECREASED BODY HEIGHT(HP:0004322), ECCHYMOSES(HP:0000978), MICROCEPHALY(HP:0000252), COMPLETE DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009943), STRABISMUS(HP:0000486)]
2176	FANCC	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LEUKEMIA(HP:0001909), RETICULOCYTOPENIA(HP:0001896), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), BLEEDING DIATHESIS(HP:0001892), APLASIA OF THE THUMB(HP:0009777), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), HYPOPLASTIC/SMALL THUMB(HP:0009778), NEUTROPENIA(HP:0001875), PANCYTOPENIA(HP:0001876), KIDNEY MALFORMATION(HP:0000792), CHROMOSOMAL BREAKAGE INDUCED BY DIEPOXYBUTANE (DEB), AND MITOMYCIN C(HP:0003221), HORSESHOE KIDNEY(HP:0000085), ECTOPIC KIDNEY(HP:0000086), DUPLICATED COLLECTING SYSTEM(HP:0000081), DEFICIENT EXCISION OF UV-INDUCED PYRIMIDINE DIMERS IN DNA(HP:0003213), PROLONGED G2 PHASE OF CELL CYCLE(HP:0003214), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), RENAL AGENESIS(HP:0000104), CAFE-AU-LAIT SPOTS(HP:0000957), HYPERPIGMENTATION(HP:0000953), DEAFNESS(HP:0000404), MENTAL RETARDATION(HP:0001249), CARDIAC MALFORMATION(HP:0002564), LOW BIRTH WEIGHT(HP:0001518), ANEMIC PALLOR(HP:0001017), MULTIPLE CHROMOSOMAL BREAKS(HP:0002915), DECREASED BODY HEIGHT(HP:0004322), ECCHYMOSES(HP:0000978), MICROCEPHALY(HP:0000252), COMPLETE DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009943), STRABISMUS(HP:0000486)]
2177	FANCD2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LEUKEMIA(HP:0001909), RETICULOCYTOPENIA(HP:0001896), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), BLEEDING DIATHESIS(HP:0001892), APLASIA OF THE THUMB(HP:0009777), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), HYPOPLASTIC/SMALL THUMB(HP:0009778), NEUTROPENIA(HP:0001875), PANCYTOPENIA(HP:0001876), KIDNEY MALFORMATION(HP:0000792), CHROMOSOMAL BREAKAGE INDUCED BY DIEPOXYBUTANE (DEB), AND MITOMYCIN C(HP:0003221), HORSESHOE KIDNEY(HP:0000085), ECTOPIC KIDNEY(HP:0000086), DUPLICATED COLLECTING SYSTEM(HP:0000081), DEFICIENT EXCISION OF UV-INDUCED PYRIMIDINE DIMERS IN DNA(HP:0003213), PROLONGED G2 PHASE OF CELL CYCLE(HP:0003214), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), RENAL AGENESIS(HP:0000104), CAFE-AU-LAIT SPOTS(HP:0000957), HYPERPIGMENTATION(HP:0000953), DEAFNESS(HP:0000404), MENTAL RETARDATION(HP:0001249), CARDIAC MALFORMATION(HP:0002564), LOW BIRTH WEIGHT(HP:0001518), ANEMIC PALLOR(HP:0001017), MULTIPLE CHROMOSOMAL BREAKS(HP:0002915), DECREASED BODY HEIGHT(HP:0004322), ECCHYMOSES(HP:0000978), MICROCEPHALY(HP:0000252), COMPLETE DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009943), STRABISMUS(HP:0000486)]
2178	FANCE	[LEUKEMIA(HP:0001909), RETICULOCYTOPENIA(HP:0001896), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), BLEEDING DIATHESIS(HP:0001892), APLASIA OF THE THUMB(HP:0009777), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), HYPOPLASTIC/SMALL THUMB(HP:0009778), NEUTROPENIA(HP:0001875), PANCYTOPENIA(HP:0001876), KIDNEY MALFORMATION(HP:0000792), HORSESHOE KIDNEY(HP:0000085), ECTOPIC KIDNEY(HP:0000086), DUPLICATED COLLECTING SYSTEM(HP:0000081), DEFICIENT EXCISION OF UV-INDUCED PYRIMIDINE DIMERS IN DNA(HP:0003213), PROLONGED G2 PHASE OF CELL CYCLE(HP:0003214), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), RENAL AGENESIS(HP:0000104), CAFE-AU-LAIT SPOTS(HP:0000957), HYPERPIGMENTATION(HP:0000953), DEAFNESS(HP:0000404), MENTAL RETARDATION(HP:0001249), CARDIAC MALFORMATION(HP:0002564), LOW BIRTH WEIGHT(HP:0001518), ANEMIC PALLOR(HP:0001017), MULTIPLE CHROMOSOMAL BREAKS(HP:0002915), DECREASED BODY HEIGHT(HP:0004322), ECCHYMOSES(HP:0000978), MICROCEPHALY(HP:0000252), COMPLETE DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009943), STRABISMUS(HP:0000486)]
2184	FAH	[RICKETS(HP:0002748), ELEVATED URINARY DELTA-AMINOLEVULINIC ACID(HP:0003163), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), EPISODIC PERIPHERAL NEUROPATHY(HP:0006949), HYPOPHOSPHATEMIC RICKETS(HP:0004912), GASTROINTESTINAL HEMORRHAGE(HP:0002239), HEPATOCELLULAR CARCINOMA(HP:0001402), PARALYTIC ILEUS(HP:0002590), CIRRHOSIS(HP:0001394), SPLENOMEGALY(HP:0001744), ACUTE HEPATIC FAILURE(HP:0006554), FAILURE TO THRIVE(HP:0001508), RENAL FANCONI SYNDROME(HP:0001994), PANCREATIC ISLET-CELL HYPERTROPHY(HP:0006275), PERIODIC PARALYSIS(HP:0003768), TYROSINEMIA(HP:0003231), RENAL FAILURE(HP:0000083), ELEVATED ALPHA-FETOPROTEIN(HP:0006254), HEPATOMEGALY(HP:0002240), HYPOGLYCEMIA(HP:0001943), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), GLOMERULOSCLEROSIS(HP:0000096), ABNORMALITY OF MUSCULATURE(HP:0003011), ASCITES(HP:0001541), HYPERMETHIONINEMIA(HP:0003235), ELEVATED TRANSAMINASES(HP:0002910), NEPHROCALCINOSIS(HP:0000121), ABNORMALITY OF COAGULATION(HP:0001928)]
2192	FBLN1	[METATARSAL SYNOSTOSIS(HP:0008098), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TOE SYNDACTYLY(HP:0001770), SYNOSTOSIS INVOLVING THE METACARPAL BONES(HP:0009701)]
2200	FBN1	[PULMONIC STENOSIS(HP:0001642), KYPHOSCOLIOSIS(HP:0002751), PATENT DUCTUS ARTERIOSUS(HP:0001643), BROAD PHALANGES OF THE HAND(HP:0009768), MEDIAL ROTATION OF THE MEDIAL MALLEOLUS(HP:0008132), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MITRAL VALVE PROLAPSE(HP:0001634), CONGESTIVE HEART FAILURE(HP:0001635), AORTIC INSUFFICIENCY(HP:0001659), EARLY CATARACTS(HP:0001113), INGUINAL HERNIA(HP:0000023), HYPOPLASIA OF THE IRIS(HP:0007676), AORTIC STENOSIS(HP:0001650), CRYPTORCHIDISM(HP:0000028), SEVERE MYOPIA (> -6.00 DIOPTERS)(HP:0000569), MITRAL REGURGITATION(HP:0001653), RECURRENT OR INCISIONAL HERNIA(HP:0004872), PULMONARY ARTERY DILATATION(HP:0004927), PROPTOSIS(HP:0000520), SMALL SHALLOW ORBITS(HP:0002706), SPONDYLOLISTHESIS(HP:0003302), ISOLATED ECTOPIA LENTIS(HP:0007637), VENTRICULAR SEPTAL DEFECT(HP:0001629), ARNOLD-CHIARI TYPE I MALFORMATION(HP:0007099), DETACHED RETINA(HP:0000541), BLINDNESS(HP:0000618), OVERGROWTH(HP:0001548), STRIAE DISTENSAE(HP:0001065), UMBILICAL HERNIA(HP:0001537), MINIMAL SUBCUTANEOUS FAT(HP:0003717), SHALLOW ANTERIOR CHAMBER(HP:0000594), THIN BONY CORTEX(HP:0002753), PES PLANUS(HP:0001763), TALIPES EQUINOVARUS(HP:0001762), PES CAVUS(HP:0001761), HAMMER TOES(HP:0001765), DENTAL OVERCROWDING(HP:0000678), BROAD METACARPALS(HP:0001230), AORTIC ROOT DILATATION(HP:0002616), HIGH-ARCHED PALATE(HP:0000156), BROAD METATARSALS(HP:0001783), MISSHAPEN TEETH(HP:0000697), MALALIGNED TEETH(HP:0000693), DENTAL MALOCCLUSION(HP:0000689), DECREASED MUSCLE MASS(HP:0003199), EMPHYSEMA(HP:0002097), MUSCULAR HYPOTONIA(HP:0001252), PNEUMOTHORAX(HP:0002107), EXOPHTHALMOS(HP:0000645), DEVELOPMENTAL RETARDATION(HP:0001263), MENTAL RETARDATION, MILD(HP:0001256), C1-C2 VERTEBRAL ABNORMALITY(HP:0008440), PROTRUSIO ACETABULI(HP:0003179), ENOPHTHALMOS(HP:0000663), BRACHYDACTYLY(HP:0001156), PREMATURE OSTEOARTHRITIS(HP:0003088), BROAD SKULL(HP:0002682), TRICUSPID VALVE PROLAPSE(HP:0001704), ARACHNODACTYLY(HP:0001166), BROAD HANDS(HP:0001169), DISLOCATED RADIAL HEAD(HP:0003083), PECTUS EXCAVATUM(HP:0000767), MICROGNATHIA(HP:0000210), HYDROCEPHALUS(HP:0000238), AORTIC DISSECTION(HP:0002647), MICROCEPHALY(HP:0000252), BRACHYCEPHALY(HP:0000248), ASCENDING AORTIC ANEURYSM(HP:0002631), MALAR HYPOPLASIA(HP:0000272), JOINT CONTRACTURES(HP:0001372), RETROGNATHIA(HP:0000278), CRANIOSYNOSTOSIS(HP:0001363), BOWING OF THE LEGS(HP:0002979), WIDE ANTERIOR FONTANEL(HP:0000260), CONGENITAL LENS DISLOCATION(HP:0007882), DOLICHOCEPHALY(HP:0000268), SKIN HYPERELASTICITY(HP:0007389), HYPERTELORISM(HP:0000316), LONG, NARROW FACIES(HP:0000318), JOINT LAXITY(HP:0001388), GENU VARUM(HP:0002970), PECTUS CARINATUM(HP:0000768), JOINT STIFFNESS(HP:0001387), DECREASED MOBILITY OF JOINTS(HP:0001376), THIN RIBS(HP:0000883), BROAD RIBS(HP:0000885), GENU VARUS(HP:0003052), ABDOMINAL WALL MUSCLE WEAKNESS(HP:0009023), METATARSUS VARUS(HP:0001840), HOOKED CLAVICLES(HP:0000895), HYPOPLASIA OF THE MAXILLA(HP:0000327), METAPHYSEAL WIDENING(HP:0003016), LOW-SET, POSTERIORLY ROTATED EARS(HP:0000368), SHORT STATURE, PROPORTIONATE(HP:0003499), ABNORMAL FORM OF EARS(HP:0000377), PREMATURE CALCIFICATION OF MITRAL ANNULUS(HP:0005136), ADULT FEMALE HEIGHT 130-157 CM(HP:0003512), ADULT MALE HEIGHT 142-169 CM(HP:0003518), CAMPTODACTYLY (HANDS)(HP:0010563), GENU VALGUM(HP:0002857), HEARING LOSS, CONDUCTIVE(HP:0000405), OBSTRUCTIVE SLEEP APNEA(HP:0002870), GASTROESOPHAGEAL REFLUX(HP:0002020), SPINAL CANAL STENOSIS(HP:0003416), OSTEOPENIA(HP:0000938), FEEDING DIFFICULTIES(HP:0002022), INCREASED AXIAL GLOBE LENGTH(HP:0007800), FRONTAL BOSSING(HP:0002007), GENU RECURVATUM(HP:0002816), FLATTENED NASAL BRIDGE(HP:0000425), UPTURNED NOSE(HP:0000427), DECREASED SUBCUTANEOUS FAT(HP:0001002), LUMBAR HYPERLORDOSIS(HP:0002938), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), METABOLISM ABNORMALITY(HP:0001939), TELECANTHUS(HP:0000506), GLAUCOMA(HP:0000501), SUPERNUMERARY RIBS(HP:0005815), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486)]
2201	FBN2	[PATENT DUCTUS ARTERIOSUS(HP:0001643), CONTRACTURES(HP:0001371), BICUSPID AORTIC VALVE(HP:0001647), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ELBOW CONTRACTURES(HP:0002987), MYOPIA(HP:0000545), MITRAL VALVE PROLAPSE(HP:0001634), KNEE CONTRACTURES(HP:0002978), SCAPHOCEPHALY(HP:0000258), KERATOCONUS(HP:0000563), DISLOCATION OF PATELLA(HP:0002999), HIP CONTRACTURES(HP:0003273), MITRAL REGURGITATION(HP:0001653), DOLICHOCEPHALY(HP:0000268), POORLY FORMED PINNAE(HP:0008562), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), PECTUS CARINATUM(HP:0000768), IRIS COLOBOMA(HP:0000612), METATARSUS VARUS(HP:0001840), CONGENITAL KYPHOSCOLIOSIS(HP:0008453), ECTOPIA LENTIS(HP:0001083), HYPOPLASTIC CALF MUSCLES(HP:0008962), TALIPES EQUINOVARUS(HP:0001762), AORTIC ROOT DILATATION(HP:0002616), HIGH-ARCHED PALATE(HP:0000156), OSTEOPENIA(HP:0000938), FRONTAL BOSSING(HP:0002007), MOTOR RETARDATION(HP:0001270), DOLICHOSTENOMELIA(HP:0001519), SHORT NECK(HP:0000470), ARACHNODACTYLY(HP:0001166), ADDUCTED THUMBS(HP:0001181), MICROGNATHIA(HP:0000210), CONTRACTURES OF THE PROXIMAL INTERPHALANGEAL JOINTS OF THE FINGERS(HP:0009698), BRACHYCEPHALY(HP:0000248), ULNAR DEVIATION OF FINGERS(HP:0009465)]
2202	EFEMP1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HONEYCOMB RETINAL DEGENERATION(HP:0007937)]
2203	FBP1	[HYPOKINESIA(HP:0002375), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IRRITABILITY(HP:0000737), TACHYCARDIA(HP:0001649), HEPATOMEGALY(HP:0002240), METABOLIC ACIDOSIS(HP:0001942), HYPERVENTILATION(HP:0002883), LETHARGY(HP:0001254), HYPOGLYCEMIA(HP:0001943), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), APNEA(HP:0002104), COMA(HP:0001259), KETOSIS(HP:0001946), DYSPNEA(HP:0002094)]
2218	FKTN	[DILATED CARDIOMYOPATHY(HP:0001644), EXTERNAL AUDITORY CANAL ATRESIA(HP:0000413), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL MALFORMATION(HP:0007901), HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079), MICROTIA(HP:0000393), MENTAL RETARDATION, PROFOUND(HP:0002187), EXCESSIVE DAYTIME SLEEPINESS(HP:0002189), ANAL ATRESIA(HP:0002023), MICROPHTHALMOS(HP:0000568), TYPE II LISSENCEPHALY(HP:0007260), CATARACT(HP:0000518), MUSCULAR HYPOTONIA(HP:0001252), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), MOTOR RETARDATION(HP:0001270), OCCIPITAL ENCEPHALOCELE(HP:0002085), DETACHED RETINA(HP:0000541), PROXIMAL MUSCLE WEAKNESS, MILD(HP:0009033), AGENESIS OF CORPUS CALLOSUM(HP:0001274), ONSET IN INFANCY(HP:0003576), PETERS ANOMALY(HP:0000659), CLEFT LIP(HP:0000204), DANDY-WALKER MALFORMATION(HP:0001305), OPTIC NERVE HYPOPLASIA(HP:0000609), PYRAMIDAL TRACT HYPOPLASIA(HP:0007348), CONGENITAL CONTRACTURES(HP:0002803), ABNORMALITY OF THE GENITAL TRACT(HP:0000078), PACHYGYRIA(HP:0001302), ANTERIOR CHAMBER MALFORMATION(HP:0007699), VENTRICULOMEGALY(HP:0002119), INCREASED CREATINE KINASE(HP:0003078), HYDROCEPHALUS(HP:0000238), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), RETINAL DYSPLASIA(HP:0007973), RENAL DYSPLASIA(HP:0000110), GLAUCOMA(HP:0000501), CONGENITAL MUSCULAR DYSTROPHY(HP:0003741), COLOBOMA(HP:0000589), MYOCARDIAL FIBROSIS(HP:0001685), THICK CEREBRAL CORTEX(HP:0006891), MICROCEPHALY(HP:0000252), MENINGOENCEPHALOCELE(HP:0006888), INCREASED SERUM CREATINE KINASE(HP:0002147), MEGALOCORNEA(HP:0000485)]
2235	FECH	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILD HYPERTRIGLYCERIDEMIA(HP:0008332), PRURITUS(HP:0000989), HEPATIC FAILURE(HP:0001399), ONSET BEFORE AGE 2 YEARS(HP:0003667), HEMOLYTIC ANEMIA(HP:0001878), EDEMA(HP:0000969), CHOLELITHIASIS(HP:0001081)]
2242	FES	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ACUTE PROMYELOCYTIC LEUKEMIA(HP:0004836)]
2243	FGA	[GENERALIZED AMYLOID DEPOSITION(HP:0003216), HEMATURIA(HP:0000790), NEPHROTIC SYNDROME(HP:0000100), HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CHOLESTASIS(HP:0001396), NEUROLOGICAL ABNORMALITY(HP:0000707), ABNORMALITY OF THE SKIN(HP:0000951), SPLENOMEGALY(HP:0001744), NEPHROPATHY(HP:0000112), PROTEINURIA(HP:0000093), BLEEDING DIATHESIS(HP:0001892), HEPATOMEGALY(HP:0002240)]
2244	FGB	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE ABDOMEN(HP:0001438), BLEEDING DIATHESIS(HP:0001892)]
2245	FGD1	[DELAYED PUBERTY(HP:0000823), INGUINAL HERNIA(HP:0000023), CRYPTORCHIDISM(HP:0000028), CERVICAL SPINE HYPERMOBILITY(HP:0003318), ROUND FACE(HP:0000311), HYPERTELORISM(HP:0000316), WIDE PHILTRUM(HP:0000289), SHAWL SCROTUM(HP:0000049), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), HYPERMETROPIA(HP:0000540), FLESHY EARLOBES(HP:0009748), WIDOW'S PEAK(HP:0000349), HYPOPLASIA OF THE MAXILLA(HP:0000327), PROMINENT UMBILICUS(HP:0001544), MILD TO MODERATE SHORT STATURE(HP:0003503), TRANSVERSE PALMAR CREASES(HP:0000954), SHORT, BROAD FEET(HP:0001773), CURVED LINEAR DIMPLE BELOW THE LOWER LIP(HP:0002055), INCREASED UPPER TO LOWER SEGMENT RATIO(HP:0008904), CLEFT PALATE(HP:0000175), MENTAL RETARDATION(HP:0001249), SMALL, SHORT NOSE(HP:0003192), HYPODONTIA(HP:0000668), FAILURE TO THRIVE(HP:0001508), BROAD NASAL BRIDGE(HP:0000431), FINGER JOINT HYPEREXTENSIBILITY(HP:0006158), CLEFT LIP(HP:0000204), CLINODACTYLY OF HANDS(HP:0001157), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), SHORT NECK(HP:0000470), NARES, ANTEVERTED(HP:0000463), PECTUS EXCAVATUM(HP:0000767), SHORT BROAD HANDS(HP:0001174), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPERACTIVITY(HP:0000752), PTOSIS(HP:0000508), SCOLIOSIS(HP:0002650), ATTENTION DEFICIT HYPERACTIVITY DISORDER(HP:0007018), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486)]
2248	FGF3	[WIDELY SPACED TEETH(HP:0000687), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), LONG FACE(HP:0000276), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DELAYED GROSS MOTOR DEVELOPMENT(HP:0002194), DEAFNESS(HP:0000404), MICROTIA(HP:0000393), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), MICRODONTIA(HP:0000691), MICROGNATHIA(HP:0000210)]
2255	FGF10	[MIXED HEARING LOSS(HP:0000410), BILATERAL DIGITALIZED THUMBS(HP:0005707), APLASTIC/HYPOPLASTIC LACRIMAL PUNCTA(HP:0007892), SIMPLE, CUP-SHAPED EARS(HP:0008531), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DELAYED ERUPTION OF DECIDUOUS TEETH(HP:0000680), LACRIMAL GLAND APLASIA/HYPOPLASIA(HP:0007656), PEG-SHAPED INCISORS(HP:0000673), 2-3 FINGER SYNDACTYLY(HP:0001233), CLINODACTYLY, 3,5 FINGER(HP:0006181), THENAR HYPOPLASIA(HP:0001245), SHORT ULNA(HP:0002998), SHORT RADIUS(HP:0002995), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), APLASIA OF THE PAROTID GLAND(HP:0009740), NEPHROSCLEROSIS(HP:0009741), HYPERTELORISM(HP:0000316), ALACRIMA(HP:0000522), HYPODONTIA(HP:0000668), CARIOUS TEETH(HP:0000670), APLASIA OF THE PROXIMAL PHALANX OF THE THUMB(HP:0009637), CORONAL HYPOSPADIAS(HP:0008743), BROAD FOREHEAD(HP:0000337), ABSENCE OF STENSEN DUCT(HP:0000198), DACROCYSTITIS(HP:0000620), XEROSTOMIA(HP:0000217), PERIORBITAL FULLNESS(HP:0000629), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), NASOLACRIMAL DUCT OBSTRUCTION(HP:0000579), TELECANTHUS(HP:0000506), RENAL AGENESIS(HP:0000104), RECURRENT CORNEAL EROSIONS(HP:0000495), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), HYPEREXTENSIBLE SKIN(HP:0000974), PARTIAL DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009944), BROAD HALLUX(HP:0010055)]
2259	FGF14	[PES CAVUS(HP:0001761), GAIT ATAXIA(HP:0002066), OROFACIAL DYSKINESIA(HP:0002310), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LIMB ATAXIA(HP:0002070), TRUNCAL ATAXIA(HP:0002078), ABNORMALITY OF THE FACE(HP:0000271), CEREBELLAR ATAXIA(HP:0001253), SLOW PROGRESSION(HP:0003677), HEAD TREMOR(HP:0002346), DYSARTHRIA(HP:0001260), DYSMETRIC SACCADES(HP:0000641), GAZE-EVOKED NYSTAGMUS(HP:0000640), MENTAL RETARDATION, MILD(HP:0001256), MEMORY LOSS(HP:0002081), CEREBELLAR ATROPHY(HP:0001272), HETEROGENEOUS(HP:0001425), BLINDNESS(HP:0000618), ABNORMALITY OF OCULAR SMOOTH PURSUIT(HP:0000617), DEPRESSION(HP:0000716), SENSORY AXONAL NEUROPATHY, MILD(HP:0006883), STRABISMUS(HP:0000486)]
2260	FGFR1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INGUINAL HERNIA(HP:0000023), CRYPTORCHIDISM(HP:0000028), NARROW PELVIS(HP:0003275), ENLARGED PENIS(HP:0000040), CHORDEE(HP:0000041), PROPTOSIS(HP:0000520), HYPOSPADIAS(HP:0000047), ATRIAL SEPTAL DEFECT(HP:0001631), HYPOPLASTIC LABIA MAJORA(HP:0000059), FUSED LABIA MINORA(HP:0000063), OCCASIONAL CLOVER-LEAF SKULL(HP:0004477), SPORADIC(HP:0003745), MECKEL DIVERTICULUM(HP:0002245), ISOLATED HYPOGONADOTROPIC HYPOGONADISM(HP:0008224), UPPER AIRWAY OBSTRUCTION(HP:0002781), SHALLOW ORBITS(HP:0000586), CRANIOSYNOSTOSIS, CORONAL AND LAMBDOIDAL(HP:0004441), OMPHALOCELE(HP:0001539), HYPOTELORISM(HP:0000601), DECREASED TESTICULAR SIZE(HP:0008734), TARSONAVICULAR AND CALCANEONAVICULAR FUSION(HP:0008122), DENTAL OVERCROWDING(HP:0000678), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), RESPIRATORY DISTRESS(HP:0002098), SMALL NOSE WITH LOW NASAL BRIDGE(HP:0004506), NASAL HYPOPLASIA(HP:0003196), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), SYNOPHRYS(HP:0000664), LUMBAR HEMIVERTEBRAE(HP:0008439), ARACHNODACTYLY(HP:0001166), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), SPEECH DELAY(HP:0002117), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), SHORT BROAD HANDS(HP:0001174), SHORT, WIDE PHALANGES(HP:0006030), HYDROCEPHALUS(HP:0000238), SHORT, BROAD METACARPALS(HP:0006065), UNERUPTED TEETH(HP:0000706), MICROCEPHALY(HP:0000252), BRACHYTURRICEPHALY(HP:0000244), TRIGONOCEPHALY(HP:0000243), JOINT CONTRACTURES(HP:0001372), MALAR HYPOPLASIA(HP:0000272), RHIZOMELIC DWARFISM(HP:0003520), FEMORAL BOWING(HP:0002980), WIDE ANTERIOR FONTANEL(HP:0000260), PRIMARY AMENORRHEA(HP:0000786), HYPERTELORISM(HP:0000316), KIDNEY MALFORMATION(HP:0000792), NARROW CHEST(HP:0000774), SHORT, BROAD METATARSALS(HP:0001865), GENU VARUM(HP:0002970), MANDIBULAR PROGNATHIA(HP:0000303), LONG PHILTRUM(HP:0000343), GENU VARUS(HP:0003052), SHORT, BOWED LIMBS(HP:0003054), RADIOHUMERAL SYNOSTOSIS(HP:0003041), HYPOPLASIA OF THE MAXILLA(HP:0000327), 2-3 TOE SYNDACTYLY(HP:0004691), ELBOW ANKYLOSIS(HP:0003070), LOW-SET EARS(HP:0000369), MEDIALLY DEVIATED, BROAD GREAT TOES(HP:0004710), HYPOPLASTIC TOENAILS(HP:0001800), ULNAR BOWING(HP:0003031), CARTILAGINOUS TRACHEA(HP:0005347), ARNOLD-CHIARI MALFORMATION(HP:0002308), CAMPTODACTYLY (HANDS)(HP:0010563), STENOTIC EXTERNAL AUDITORY CANAL(HP:0000402), HEARING LOSS, SENSORINEURAL(HP:0000407), DYSPLASTIC EARS(HP:0000398), PREAURICULAR SKIN TAG(HP:0000384), PLATYSPONDYLY(HP:0000926), BROAD PHALANGES OF THE THUMB(HP:0009651), FRONTAL BOSSING(HP:0002007), PSEUDOARTHROSIS(HP:0005864), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), SHORT SCAPULAE(HP:0000906), HETEROGENEOUS(HP:0001425), VARIABLE MENTAL RETARDATION(HP:0002382), SHORT NECK(HP:0000470), NARES, ANTEVERTED(HP:0000463), ANOSMIA(HP:0000458), CONGENITAL VERTICAL TALUS(HP:0010218), CHOANAL ATRESIA(HP:0000453), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), BRACHYMESOPHALANGY OF HANDS AND FEET(HP:0006239), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), CUTANEOUS SYNDACTYLY OF THE FINGERS(HP:0010554), STRABISMUS(HP:0000486)]
2261	FGFR3	[SMALL FACE(HP:0000274), DEATH IN MAJORITY OF INFANTS SOON AFTER BIRTH(HP:0003824), BILATERAL DIGITALIZED THUMBS(HP:0005707), MALAR HYPOPLASIA(HP:0000272), SHORT-LIMB DWARFISM IDENTIFIABLE DURING CHILDHOOD(HP:0003523), APLASTIC/HYPOPLASTIC LACRIMAL PUNCTA(HP:0007892), SIMPLE, CUP-SHAPED EARS(HP:0008531), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BOWING OF THE LEGS(HP:0002979), SMALL ABNORMALLY FORMED SCAPULAE(HP:0006584), MILD FRONTAL BOSSING(HP:0001359), MENTAL RETARDATION, PROFOUND(HP:0002187), PLAGIOCEPHALY(HP:0001357), MEGALENCEPHALY(HP:0001355), SHORT ULNA(HP:0002998), SHORT RADIUS(HP:0002995), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), FORAMEN MAGNUM STENOSIS(HP:0005468), APLASIA OF THE PAROTID GLAND(HP:0009740), NEPHROSCLEROSIS(HP:0009741), SHORT MIDDLE PHALANGES (FEET)(HP:0003795), RESPIRATORY INSUFFICIENCY/FAILURE(HP:0006542), HYPERTELORISM(HP:0000316), ALACRIMA(HP:0000522), NARROW CHEST(HP:0000774), SHORT RIBS(HP:0000773), GENU VARUM(HP:0002970), RHIZOMELIC SHORTENING(HP:0002968), LOW FRONTAL HAIRLINE(HP:0000294), LIMITED ELBOW EXTENSION(HP:0001377), TRIDENT ABNORMALITY(HP:0004060), CORONAL HYPOSPADIAS(HP:0008743), GENU VARUS(HP:0003052), BROAD FOREHEAD(HP:0000337), DACROCYSTITIS(HP:0000620), CAMPTODACTYLY (FEET)(HP:0001836), PERIORBITAL FULLNESS(HP:0000629), NUMEROUS NEVI(HP:0001054), BRAIN STEM COMPRESSION(HP:0002512), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), NASOLACRIMAL DUCT OBSTRUCTION(HP:0000579), INCREASED BODY HEIGHT(HP:0000098), UPPER AIRWAY OBSTRUCTION(HP:0002781), SHORT-LIMB DWARFISM IDENTIFIABLE AT BIRTH(HP:0001536), RENAL AGENESIS(HP:0000104), CORONAL CRANIOSYNOSTOSIS(HP:0004440), GENERALIZED JOINT LAXITY(HP:0002761), LETHAL MICROMELIC DWARFISM(HP:0003506), SHORT FEMORAL NECK(HP:0003032), DISPROPORTIONATELY TALL VERTEBRAL BODIES(HP:0005693), POLYHYDRAMNIOS(HP:0001561), DECREASED FETAL ACTIVITY(HP:0001559), BROAD HALLUX(HP:0010055), MIXED HEARING LOSS(HP:0000410), BROAD, THIMBLE-LIKE MIDDLE PHALANGES(HP:0006193), CAMPTODACTYLY (HANDS)(HP:0010563), DELAYED ERUPTION OF DECIDUOUS TEETH(HP:0000680), BLADDER CARCINOMA(HP:0002862), FLARED IRREGULAR METAPHYSES(HP:0000945), PEG-SHAPED INCISORS(HP:0000673), LUMBAR KYPHOSIS IN INFANCY(HP:0008414), MARKED SHORTNESS AND BOWING OF LONG BONES(HP:0006452), HIGH-ARCHED PALATE(HP:0000156), 2-3 FINGER SYNDACTYLY(HP:0001233), CLINODACTYLY, 3,5 FINGER(HP:0006181), SHORT TUBULAR BONES WITH MILD METAPHYSEAL FLARE(HP:0005000), THENAR HYPOPLASIA(HP:0001245), INFANTILE MUSCULAR HYPOTONIA(HP:0008947), CAPITATE-HAMATE FUSION(HP:0001241), DEVELOPMENTAL RETARDATION(HP:0001263), SMALL SACROILIAC NOTCHES(HP:0003185), APLASTIC/HYPOPLASTIC LACRIMAL GLANDS(HP:0008038), MOTOR RETARDATION(HP:0001270), HYPODONTIA(HP:0000668), WIDE-CUPPED COSTOCHONDRAL JUNCTIONS(HP:0000910), SPINAL STENOSIS(HP:0008446), CARIOUS TEETH(HP:0000670), BROAD FEMORAL METAPHYSES(HP:0006417), SHORT AND SMALL ILIAC BONES(HP:0003178), LOW NASAL BRIDGE(HP:0000428), APLASIA OF THE PROXIMAL PHALANX OF THE THUMB(HP:0009637), CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230), TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), CONGENITAL SPINAL STENOSIS DUE TO SHORT PEDICLES(HP:0004597), ABSENCE OF STENSEN DUCT(HP:0000198), LIMITED ELBOW AND HIP EXTENSION(HP:0003093), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), PECTUS EXCAVATUM(HP:0000767), XEROSTOMIA(HP:0000217), PIGMENTED NEVI(HP:0000995), LUMBAR HYPERLORDOSIS(HP:0002938), PTOSIS(HP:0000508), HYDROCEPHALUS(HP:0000238), TELECANTHUS(HP:0000506), SEVERE PLATYSPONDYLY(HP:0004565), RECURRENT OTITIS MEDIA IN INFANCY(HP:0008624), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), RECURRENT CORNEAL EROSIONS(HP:0000495), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), RECURRENT OTITIS MEDIA IN INFANCY AND CHILDHOOD(HP:0008622), HYPEREXTENSIBLE SKIN(HP:0000974), BRACHYCEPHALY(HP:0000248), PARTIAL DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009944)]
2263	FGFR2	[VARIABLE EXPRESSIVITY(HP:0003828), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BUPHTHALMOS(HP:0000557), CRYPTORCHIDISM(HP:0000028), NARROW PELVIS(HP:0003275), ABNORMALITY OF THE CERVICAL SPINE(HP:0003319), PROPTOSIS(HP:0000520), PLAGIOCEPHALY (ASYMMETRY OF ORBITS)(HP:0001121), CRANIOSYNOSTOSIS OF CORONAL, LAMBDOID, AND/OR METOPIC SUTURES(HP:0005457), BIFID SCROTUM(HP:0000048), PARIETAL FORAMINA(HP:0002697), VENTRICULAR SEPTAL DEFECT(HP:0001629), ARNOLD-CHIARI TYPE I MALFORMATION(HP:0007099), ATRIAL SEPTAL DEFECT(HP:0001631), HYPOPLASTIC LABIA MAJORA(HP:0000059), FUSED LABIA MINORA(HP:0000063), ANOMALOUS TRACHEAL CARTILAGE(HP:0004468), ABNORMALITY OF THE LACRIMAL DUCT(HP:0000614), BROAD DISTAL PHALANGES OF THE HAND(HP:0009836), OCCASIONAL CLOVER-LEAF SKULL(HP:0004477), LARGE, LATE-CLOSING FONTANELLE(HP:0004473), SPORADIC(HP:0003745), PREAURICULAR SKIN FURROWS(HP:0004450), CRANIOFACIAL DYSOSTOSIS(HP:0004439), ANTERIORLY PLACED ANUS(HP:0001545), UPPER AIRWAY OBSTRUCTION(HP:0002781), SHALLOW ORBITS(HP:0000586), BROAD DISTAL HALLUX(HP:0008111), CRANIOSYNOSTOSIS, CORONAL AND LAMBDOIDAL(HP:0004441), HYDRONEPHROSIS(HP:0000126), PROMINENT SCROTAL RAPHE(HP:0003246), TARSONAVICULAR AND CALCANEONAVICULAR FUSION(HP:0008122), DELAYED DENTITION(HP:0000684), OVERRIDING AORTA(HP:0002623), DENTAL OVERCROWDING(HP:0000678), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), DENTAL MALOCCLUSION(HP:0000689), RESPIRATORY DISTRESS(HP:0002098), SMALL NOSE WITH LOW NASAL BRIDGE(HP:0004506), CHRONIC ATROPHIC GASTRITIS(HP:0002582), CLEFT PALATE(HP:0000175), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), FUSION OF CARPAL BONES(HP:0005048), DEVELOPMENTAL RETARDATION(HP:0001263), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), MODERATE TO SEVERE ACNE(HP:0005596), AGENESIS OF CORPUS CALLOSUM(HP:0001274), ACROBRACHYCEPHALY(HP:0004487), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), BIFID UVULA(HP:0000193), CRANIOSYNOSTOSIS (CORONAL, SAGITTAL, LAMBDOID SUTURES)(HP:0002685), ARACHNODACTYLY(HP:0001166), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), VENTRICULOMEGALY(HP:0002119), PREAXIAL POLYDACTYLY (HANDS)(HP:0001177), HYDROCEPHALUS(HP:0000238), BRACHYTURRICEPHALY(HP:0000244), MALAR HYPOPLASIA(HP:0000272), JOINT CONTRACTURES(HP:0001372), FEMORAL BOWING(HP:0002980), PLAGIOCEPHALY(HP:0001357), OYXCEPHALY(HP:0000263), MEGALENCEPHALY(HP:0001355), BREAST CANCER(HP:0003002), WIDE ANTERIOR FONTANEL(HP:0000260), DELAYED CLOSURE OF FONTANELLES(HP:0000270), CERVICAL VERTEBRAE FUSION, USUALLY AT C5 TO C6(HP:0004635), HYPERTELORISM(HP:0000316), KIDNEY MALFORMATION(HP:0000792), RADIOULNAR SYNOSTOSIS(HP:0002974), NARROW CHEST(HP:0000774), SHORT, BROAD METATARSALS(HP:0001865), LOW FRONTAL HAIRLINE(HP:0000294), LIMITED ELBOW EXTENSION(HP:0001377), MANDIBULAR PROGNATHIA(HP:0000303), LONG PHILTRUM(HP:0000343), APLASIA OF THE 1ST METATARSAL(HP:0010104), RADIOHUMERAL SYNOSTOSIS(HP:0003041), HYPOPLASIA OF THE MAXILLA(HP:0000327), FACIAL ASYMMETRY(HP:0000324), 2-3 TOE SYNDACTYLY(HP:0004691), ELBOW ANKYLOSIS(HP:0003070), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), INCREASED INTRACRANIAL PRESSURE(HP:0002516), LIMBIC MALFORMATIONS(HP:0007343), HALLUX VALGUS(HP:0001822), LOW-SET, POSTERIORLY ROTATED EARS(HP:0000368), MEDIALLY DEVIATED, BROAD GREAT TOES(HP:0004710), SMALL NAILS(HP:0001813), ABSENT SEPTUM PELLUCIDUM(HP:0001331), HIGH, BROAD FOREHEAD(HP:0000354), ULNAR BOWING(HP:0003031), ACANTHOSIS NIGRICANS(HP:0000956), ESOPHAGEAL ATRESIA(HP:0002032), SMALL EARS(HP:0000409), POSTERIOR FOSSA CYSTS(HP:0007291), CARTILAGINOUS TRACHEA(HP:0005347), PROMINENT EARS(HP:0000412), BIFID TERMINAL PHALANGES DIGITS 2 AND 3(HP:0006196), EXTERNAL AUDITORY CANAL ATRESIA(HP:0000413), CAMPTODACTYLY (HANDS)(HP:0010563), STENOTIC EXTERNAL AUDITORY CANAL(HP:0000402), DEAFNESS(HP:0000404), HEARING LOSS, CONDUCTIVE(HP:0000405), PYLORIC STENOSIS(HP:0002021), DYSPLASTIC EARS(HP:0000398), CHRONIC OTITIS MEDIA(HP:0000389), BROAD PHALANGES OF THE THUMB(HP:0009651), BEAKED NOSE(HP:0000444), FLATTENED NASAL BRIDGE(HP:0000425), DISHARMONIOUS CARPAL BONE(HP:0006153), EXCESSIVE WRINKLED SKIN (PALMS AND SOLES)(HP:0001016), THIN, LONG, POINTED NOSE(HP:0005283), VARIABLE MENTAL RETARDATION(HP:0002382), EARLY DEATH(HP:0001432), DECREASED BODY HEIGHT(HP:0004322), CONGENITAL VERTICAL TALUS(HP:0010218), CHOANAL ATRESIA(HP:0000453), CHOANAL STENOSIS(HP:0000452), PTOSIS(HP:0000508), CONJUNCTIVITIS(HP:0000509), IMPAIRED VISION(HP:0000505), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), BRACHYMESOPHALANGY OF HANDS AND FEET(HP:0006239), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), CUTANEOUS SYNDACTYLY OF THE FINGERS(HP:0010554), STRABISMUS(HP:0000486)]
2271	FH	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), UTERINE LEIOMYOMA(HP:0000131), MENTAL RETARDATION, PROFOUND(HP:0002187), HIGHLY VARIABLE PHENOTYPE(HP:0003815), HIGH-ARCHED PALATE(HP:0000156), ERYTHROCYTOSIS(HP:0001901), DECREASED FUMARATE HYDRATASE ACTIVITY(HP:0003536), CHOROID PLEXUS CYST(HP:0002190), CEREBRAL ATROPHY(HP:0002059), CUTANEOUS LEIOMYOMATA(HP:0007620), MUSCULAR HYPOTONIA(HP:0001252), OPTIC ATROPHY(HP:0000648), FRONTAL BOSSING(HP:0002007), DEVELOPMENTAL RETARDATION(HP:0001263), HYPERTELORISM(HP:0000316), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), RELATIVE MACROCEPHALY(HP:0004482), STATUS EPILEPTICUS(HP:0002133), MITOCHONDRIAL INHERITANCE(HP:0001427), NARES, ANTEVERTED(HP:0000463), DECREASED SUBCUTANEOUS FAT(HP:0001002), POLYMICROGYRIA(HP:0002126), RENAL CELL CARCINOMA, SOLITARY PAPILLARY TYPE II(HP:0006732), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), LACTIC ACIDEMIA(HP:0003128), IMPAIRED VISION(HP:0000505), MULTIPLE CUTANEOUS LEIOMYOMAS(HP:0007437), UTERINE LEIOMYOSARCOMA(HP:0002891), CUTANEOUS LEIOMYOSARCOMA(HP:0006755), MICROCEPHALY(HP:0000252)]
2294	FOXF1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RIGHT-TO-LEFT SHUNT(HP:0001694), PULMONARY HYPERTENSION(HP:0002092)]
2296	FOXC1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BUPHTHALMOS(HP:0000557), HYPOPLASTIC IRIS STROMA(HP:0007990)]
2299	FOXI1	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
2301	FOXE3	[CATARACT(HP:0000518), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONGENITAL PRIMARY APHAKIA(HP:0007707), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SCLEROCORNEA(HP:0000647), ANIRIDIA(HP:0000526), ANTERIOR SEGMENT OCULAR DYSGENESIS(HP:0007696), ANTERIOR SEGMENT OF EYE APLASIA(HP:0007779), MICROPHTHALMOS(HP:0000568)]
2303	FOXC2	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EPICANTHUS(HP:0000286), TETRALOGY OF FALLOT(HP:0001636), LYMPHEDEMA, PREDOMINANTLY IN THE LOWER LIMBS(HP:0003550), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), DISTICHIASIS(HP:0009743), VENTRICULAR SEPTAL DEFECT(HP:0001629), EPIDURAL ARACHNOID CYSTS OF THE SPINAL CANAL(HP:0009745), KYPHOSIS(HP:0002808), PHOTOPHOBIA(HP:0000613), ABNORMALITIES OF THE VERTEBRAE(HP:0003468), ABNORMALITY OF MUSCULATURE(HP:0003011), BIFID UTERUS(HP:0000136), VARICOSE VEINS(HP:0002619), CLEFT PALATE(HP:0000175), ECTROPION(HP:0000656), CLEFT LIP(HP:0000204), BIFID UVULA(HP:0000193), DECREASED BODY HEIGHT(HP:0004322), WEBBED NECK(HP:0000465), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), CONJUNCTIVITIS(HP:0000509), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), ONSET OF LYMPHEDEMA AROUND PUBERTY(HP:0003605), SCOLIOSIS(HP:0002650), RECURRENT CORNEAL EROSIONS(HP:0000495), STRABISMUS(HP:0000486)]
2304	FOXE1	[CLEFT PALATE(HP:0000175), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), POLYHYDRAMNIOS(HP:0001561), CHOANAL ATRESIA(HP:0000453), ATHYROIDAL HYPOTHYROIDISM(HP:0008191)]
2308	FOXO1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ALVEOLAR RHABDOMYOSARCOMA(HP:0006779)]
2312	FLG	[ASTHMA(HP:0002099), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ECZEMATOID DERMATITIS(HP:0000976)]
2316	FLNA	[KYPHOSCOLIOSIS(HP:0002751), PATENT DUCTUS ARTERIOSUS(HP:0001643), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), OSTEOLYTIC DEFECTS OF THE PHALANGES OF THE HAND(HP:0009771), MITRAL VALVE PROLAPSE(HP:0001634), THICK SKULL BASE(HP:0002737), INTESTINAL PSEUDO-OBSTRUCTION(HP:0004389), COR PULMONALE(HP:0001648), APLASIA OF THE THUMB(HP:0009777), CRYPTORCHIDISM(HP:0000028), HOARSE VOICE(HP:0001609), SHORT THIRD, FOURTH, FIFTH METACARPALS(HP:0006004), HYPOSPADIAS(HP:0000047), STILLBIRTH(HP:0001624), LARGE FORAMEN MAGNUM(HP:0002700), ANTEGONIAL NOTCHING OF MANDIBLE(HP:0003779), SMALL MANDIBLE WITH OBTUSE ANGLE(HP:0005446), COARSE HAIR(HP:0002208), SCLEROTIC SKULL BASE(HP:0002694), ABSENT FRONTAL SINUSES(HP:0002688), SPONDYLOLYSIS(HP:0003304), NEURONAL MIGRATION DISORDER(HP:0002269), URETERAL STENOSIS(HP:0000071), BROAD DISTAL PHALANGES OF THE HAND(HP:0009836), HYDROURETER(HP:0000072), MULTIPLE IMPACTED TEETH(HP:0001571), NONOSSIFIED FIFTH METATARSAL(HP:0008087), AMYOTROPHY(HP:0003202), SELECTIVE TOOTH AGENESIS(HP:0001592), ANOMALOUS FIFTH METATARSAL(HP:0008089), PARTIAL FUSION OF TARSALS(HP:0008097), KNEE AND ANKLE CONTRACTURES(HP:0004985), RUDIMENTARY TO ABSENT FIBULAE(HP:0004986), OMPHALOCELE(HP:0001539), HETEROTOPIA(HP:0002282), HYDRONEPHROSIS(HP:0000126), BIPARTITE CALCANEUS(HP:0008127), PES PLANUS(HP:0001763), TALIPES EQUINOVARUS(HP:0001762), MILD, LATERAL FEMORAL BOWING(HP:0005022), DELAYED DENTITION(HP:0000684), TOE SYNDACTYLY(HP:0001770), INCREASED DENSITY OF LONG BONE DIAPHYSES(HP:0006440), SCAPULAR WINGING(HP:0003691), 'TREE-FROG' FEET(HP:0001782), MALALIGNED TEETH(HP:0000693), SHORT, BROAD THUMBS(HP:0001240), DENTAL MALOCCLUSION(HP:0000689), NASAL HYPOPLASIA(HP:0003196), CLEFT PALATE(HP:0000175), FUSION OF CARPAL BONES(HP:0005048), EXOPHTHALMOS(HP:0000645), FINGER AND WRIST CONTRACTURES(HP:0006137), MICROSTOMIA(HP:0000160), MENTAL RETARDATION, MILD(HP:0001256), MOTOR RETARDATION(HP:0001270), PULMONARY HYPERTENSION(HP:0002092), RESPIRATORY INSUFFICIENCY(HP:0002093), COXA VALGA(HP:0002673), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), TRICUSPID VALVE PROLAPSE(HP:0001704), ARACHNODACTYLY(HP:0001166), DISLOCATED RADIAL HEAD(HP:0003083), PECTUS EXCAVATUM(HP:0000767), HIGH PALATE(HP:0000218), HYDROCEPHALUS(HP:0000238), NAIL DYSPLASIA(HP:0002164), WORMIAN BONES(HP:0002645), RADIAL DEVIATION OF THE 2ND FINGER(HP:0009467), SMALL FACE(HP:0000274), CONGENITAL HIP DISLOCATION(HP:0001374), MALAR HYPOPLASIA(HP:0000272), ANTERIORLY PLACED ODONTOID PROCESS(HP:0004608), ANTERIOR CONCAVITY OF THORACIC VERTEBRAE(HP:0004611), ELBOW CONTRACTURES(HP:0002987), RADIAL BOWING(HP:0002986), TIBIAL BOWING(HP:0002982), COARSE FACIAL FEATURES(HP:0000280), WIDE ANTERIOR FONTANEL(HP:0000260), RECURRENT SYMPTOMS AND SIGNS OF INTESTINAL OBSTRUCTION(HP:0005239), CEREBROVASCULAR ACCIDENT(HP:0002452), PROMINENT OCCIPUT(HP:0000269), FUSED CERVICAL VERTEBRAE(HP:0002949), HYPERTELORISM(HP:0000316), NARROW CHEST(HP:0000774), GENU VARUM(HP:0002970), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), LIMITED ELBOW EXTENSION(HP:0001377), SHORT, BROAD HALLUCES(HP:0001861), GAP BETWEEN FIRST AND SECOND TOES(HP:0001852), GENU VARUS(HP:0003052), PROMINENT SUPRAORBITAL RIDGES(HP:0000336), INCREASED DENSITY OF LONG BONES(HP:0006392), LIMITED KNEE FLEXION(HP:0006389), INTRACTABLE SEIZURES(HP:0001303), SEVERE MICROGNATHIA(HP:0000345), SHORT CLAVICLES(HP:0000894), GAIT DISTURBANCE(HP:0001288), CONFUSION(HP:0001289), LARGE FEET(HP:0001833), LOW-SET EARS(HP:0000369), METAPHYSEAL FLARING(HP:0003015), SHORT HUMERI(HP:0003014), POSTERIORLY ROTATED EARS(HP:0000358), PERSISTENCE OF DECIDUOUS TEETH(HP:0006341), ULNAR BOWING(HP:0003031), SHORT, BROAD DISTAL PHALANGES(HP:0006199), RECURRENT OTITIS MEDIA(HP:0000403), LARGE EARS(HP:0000400), PARTIAL FUSION OF CARPALS(HP:0006207), GENU VALGUM(HP:0002857), HYPOPLASTIC ILIA(HP:0000946), HEARING LOSS, CONDUCTIVE(HP:0000405), DELAYED CLOSURE OF THE ANTERIOR FONTANELLE(HP:0001476), 'COAT HANGER' DEFORMITY OF LOWER RIBS(HP:0006665), ACCESSORY CARPAL BONES(HP:0004232), PLATYSPONDYLY(HP:0000926), HYPOPLASTIC, IRREGULAR METACARPALS(HP:0006160), FRONTAL BOSSING(HP:0002007), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), BROAD NASAL ROOT(HP:0000424), SHORT SCAPULAE(HP:0000906), BROAD NASAL BRIDGE(HP:0000431), SMALL POINTED CHIN(HP:0005330), WIDE AND ELONGATED PHALANGES(HP:0006155), CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230), LONG NECK(HP:0000472), DECREASED BODY HEIGHT(HP:0004322), HIRSUTISM(HP:0001007), X-LINKED RECESSIVE INHERITANCE(HP:0001419), CONGENITAL VERTICAL TALUS(HP:0010218), X-LINKED DOMINANT INHERITANCE(HP:0001423), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), COAGULOPATHY(HP:0001925), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486)]
2317	FLNB	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEONATAL DEATH(HP:0003811), SPINAL CORD COMPRESSION(HP:0002176), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), LARYNGEAL STENOSIS(HP:0001602), STILLBIRTH(HP:0001624), VENTRICULAR SEPTAL DEFECT(HP:0001629), SPINA BIFIDA OCCULTA(HP:0003298), ATRIAL SEPTAL DEFECT(HP:0001631), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), BLOCK VERTEBRAE(HP:0003305), PREMATURE BIRTH(HP:0001622), SPONDYLOLYSIS(HP:0003304), DISLOCATIONS OF THE KNEES(HP:0004976), TRACHEAL STENOSIS(HP:0002777), TRACHEOMALACIA(HP:0002779), BRONCHOMALACIA(HP:0002780), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), SHALLOW ORBITS(HP:0000586), RENAL CYSTS(HP:0000107), POLYHYDRAMNIOS(HP:0001561), BIPARTITE CALCANEUS(HP:0008127), PES PLANUS(HP:0001763), TALIPES EQUINOVARUS(HP:0001762), SPATULATE THUMBS(HP:0001222), CLUBBING(HP:0001217), TALIPES EQUINOVALGUS(HP:0001772), HITCHHIKER THUMB(HP:0001234), DISLOCATIONS OF THE WRISTS(HP:0004992), RIGIDITY(HP:0002063), HYPOPLASTIC NARES AND SEPTUM(HP:0004507), CLEFT PALATE(HP:0000175), MENTAL RETARDATION(HP:0001249), ABSENT-HYPOPLASTIC ULNAE(HP:0006410), HYPOPLASTIC NOSTRILS(HP:0004497), SHORT FEMORA WITH PROXIMAL CLUBBING AND DISTAL TAPERING(HP:0006408), HYPODONTIA(HP:0000668), FLAT ACETABULAR ROOFS(HP:0003180), ENCEPHALOCELE(HP:0002084), RESTRICTIVE LUNG DISEASE(HP:0002091), HYPOPLASTIC CERVICAL VERTEBRAE(HP:0008434), CLEFT LIP(HP:0000204), BRACHYDACTYLY(HP:0001156), THORACIC PLATYSPONDYLY(HP:0004592), PECTUS EXCAVATUM(HP:0000767), RAREFACTION OF RETINAL PIGMENTATION(HP:0007961), AORTIC DILATATION(HP:0001724), MICROGNATHIA(HP:0000210), MULTIPLE CARPAL OSSIFICATION CENTERS(HP:0006067), BEAKING OF VERTEBRAL BODIES(HP:0004568), SCOLIOSIS(HP:0002650), TOMBSTONE-SHAPED PROXIMAL PHALANGES(HP:0006060), CERVICAL SPINE SEGMENTATION DEFECTS(HP:0004612), FIBULAR APLASIA(HP:0002990), MALAR HYPOPLASIA(HP:0000272), RADIAL BOWING(HP:0002986), TIBIAL BOWING(HP:0002982), PROMINENT OCCIPUT(HP:0000269), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), SMALL ILIAC BODIES(HP:0005740), FUSED CERVICAL VERTEBRAE(HP:0002949), CERVICAL KYPHOSIS(HP:0002947), HYPERTELORISM(HP:0000316), JOINT LAXITY(HP:0001388), GENU VARUM(HP:0002970), PECTUS CARINATUM(HP:0000768), RHIZOMELIC SHORTENING(HP:0002968), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), GAP BETWEEN FIRST AND SECOND TOES(HP:0001852), GENU VARUS(HP:0003052), ELBOW DISLOCATION(HP:0003042), MANDIBULAR HYPOPLASIA(HP:0000347), HYPOPLASIA OF THE MAXILLA(HP:0000327), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), C2-C3 SUBLUXATION(HP:0008456), 11 PAIRS OF RIBS(HP:0000878), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), PROMINENT GLOBES(HP:0007870), SHORT STATURE, DISPROPORTIONATE(HP:0003498), SHORT HUMERI(HP:0003014), SHORT LIMB DWARFISM(HP:0003505), ANTERIOR CORNEAL LENS OPACITIES(HP:0007844), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), SHORT NAILS(HP:0001799), MIXED HEARING LOSS(HP:0000410), WIDENED DISTAL PHALANGES(HP:0006200), CORONAL CLEFT VERTEBRAE(HP:0003417), PREAURICULAR SKIN TAG(HP:0000384), ACCESSORY CARPAL BONES(HP:0004232), FRONTAL BOSSING(HP:0002007), DISLOCATED HIPS(HP:0002827), FLATTENED NASAL BRIDGE(HP:0000425), BROAD NASAL ROOT(HP:0000424), HORIZONTAL SACRUM(HP:0003440), PRENATAL GROWTH DEFICIENCY(HP:0001515), SHORT NECK(HP:0000470), LORDOSIS(HP:0002939), ISOLATED CASES(HP:0001420), METABOLISM ABNORMALITY(HP:0001939), SYNOSTOSIS INVOLVING THE CARPAL BONES(HP:0009702), BROAD, SQUARE NASAL TIP(HP:0005269)]
2318	FLNC	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROXIMAL MUSCLE WEAKNESS(HP:0003701), LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS(HP:0003483), DIFFICULTY CLIMBING STAIRS(HP:0003551), WADDLING GAIT(HP:0002515), SLOW PROGRESSION(HP:0003677), MUSCLE FIBER SPLITTING(HP:0003555), INCREASED SERUM CREATINE KINASE(HP:0002147), MUSCLE BIOPSY SHOWS MYOFIBRILLAR MYOPATHY(HP:0003715), ONSET IN ADULTHOOD(HP:0003581), RESPIRATORY INSUFFICIENCY(HP:0002093), ABNORMAL MUSCLE FIBERS WITH AMORPHOUS, GRANULAR, OR HYALINE DEPOSITS(HP:0003790)]
2322	FLT3	[FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
2324	FLT4	[ABNORMALITY OF THE NAILS(HP:0001597), ONSET USUALLY AT BIRTH(HP:0003624), SPORADIC(HP:0003745), LYMPHEDEMA, PREDOMINANTLY IN THE LOWER LIMBS(HP:0003550), LYMPHOGRAPHY SHOWS HYPOPLASIA OF LYMPHATIC VESSELS(HP:0003759), CAPILLARY HEMANGIOMAS(HP:0005306), NONIMMUNE HYDROPS FETALIS(HP:0001790), HYDROCELE(HP:0000034), HYDROPS(HP:0000990), HYPERKERATOSIS OVER EDEMATOUS AREAS(HP:0007448), EDEMA(HP:0000969), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560), LATE ONSET(HP:0003584), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
2328	FMO3	[HYPERTENSION(HP:0000822), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANEMIA(HP:0001903), TACHYCARDIA(HP:0001649), TRIMETHYLAMINURIA(HP:0003614), DEPRESSION(HP:0000716), NEUTROPENIA(HP:0001875), SPLENOMEGALY(HP:0001744), RECURRENT PNEUMONIA(HP:0002095)]
2332	FMR1	[POOR EYE CONTACT(HP:0000817), INCOMPLETE PENETRANCE(HP:0003829), LONG FACE(HP:0000276), MITRAL VALVE PROLAPSE(HP:0001634), COARSE FACIAL FEATURES(HP:0000280), MACROCEPHALY(HP:0000256), ABNORMAL HEAD MOVEMENTS(HP:0002457), FOLATE-DEPENDENT FRAGILE SITE AT XQ28(HP:0003564), JOINT LAXITY(HP:0001388), MENTAL RETARDATION (MODERATE TO SEVERE IN MALES)(HP:0002499), LEARNING DISABILITY(HP:0001328), HETEROTOPIA(HP:0002282), PES PLANUS(HP:0001763), LARGE EARS(HP:0000400), MENTAL RETARDATION, MODERATE TO SEVERE(HP:0002316), MACROORCHIDISM, POSTPUBERTAL(HP:0002050), PROMINENT JAW(HP:0002051), CONGENITAL MACROORCHIDISM(HP:0008640), LARGE FOREHEAD(HP:0002003), MENTAL RETARDATION, MODERATE(HP:0002342), PECTUS EXCAVATUM(HP:0000767), HYPERACTIVITY(HP:0000752), X-LINKED DOMINANT INHERITANCE(HP:0001423), AUTISM(HP:0000717), SCOLIOSIS(HP:0002650)]
2334	AFF2	[METABOLISM ABNORMALITY(HP:0001939), MENTAL RETARDATION(HP:0001249), X-LINKED INHERITANCE(HP:0001417)]
2335	FN1	[HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROTEINURIA(HP:0000093), GENERALIZED DISTAL TUBULAR ACIDOSIS(HP:0004916), NEPHROTIC SYNDROME(HP:0000100), RENAL CELL CARCINOMA(HP:0005584), MICROSCOPIC HEMATURIA(HP:0002907), RENAL TUBULAR DYSFUNCTION(HP:0000124)]
2395	FXN	[PES CAVUS(HP:0001761), DIABETES MELLITUS(HP:0000819), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), DYSARTHRIA(HP:0001260), ONSET BEFORE ADOLESCENCE(HP:0003659), IMPAIRED VIBRATORY SENSE(HP:0002495), AREFLEXIA IN LOWER LIMBS(HP:0002522), LOW PYRUVATE CARBOXYLASE ACTIVITY IN LIVER AND CULTURED FIBROBLASTS(HP:0003209), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), ABNORMAL MOTOR AND SENSORY NERVE CONDUCTION(HP:0003134), SCOLIOSIS(HP:0002650), ABNORMAL EKG(HP:0003115), ABNORMAL ECHOCARDIOGRAM(HP:0003116)]
2488	FSHB	[METABOLISM ABNORMALITY(HP:0001939), PRIMARY AMENORRHEA(HP:0000786), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
2492	FSHR	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GONADAL DYSGENESIS(HP:0000133), NAUSEA(HP:0002018), OSTEOPOROSIS(HP:0000939), ABDOMINAL PAIN(HP:0002027), PRIMARY AMENORRHEA(HP:0000786), ASCITES(HP:0001541), ELEVATED GONADOTROPINS(HP:0000837)]
2512	FTL	[COGNITIVE DEFECTS(HP:0002441), INCREASED SERUM FERRITIN(HP:0003281), EXTRAPYRAMIDAL SIGNS(HP:0002071), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PARKINSONISM(HP:0001300), CONGENITAL NUCLEAR CATARACT(HP:0008024), BRAIN TISSUE SHOWS CAVITATION OF THE BASAL GANGLIA(HP:0007007), RIGIDITY(HP:0002063), ATAXIA(HP:0001251), DYSARTHRIA(HP:0001260), DYSTONIA(HP:0001332), BLEPHAROSPASM(HP:0000643), SPASTICITY(HP:0001257), MRI IMAGING SHOWS CAVITATION OF THE BASAL GANGLIA(HP:0007246), CHOREOATHETOSIS(HP:0001266), ABNORMALITY OF THE CEREBELLUM(HP:0001317)]
2517	FUCA1	[CARDIOMEGALY(HP:0001640), JOINT CONTRACTURES(HP:0001372), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), COARSE FACIAL FEATURES(HP:0000280), ANTERIOR BEAKING OF THORACIC AND LUMBAR VERTEBRAE(HP:0004630), THICK EYEBROWS(HP:0000574), HYPERTELORISM(HP:0000316), ABSENT/HYPOPLASTIC PARANASAL SINUSES(HP:0005453), SPASTIC TETRAPLEGIA(HP:0002510), HEPATOMEGALY(HP:0002240), HEARING LOSS(HP:0000365), BARREL-SHAPED CHEST(HP:0001552), DYSOSTOSIS MULTIPLEX(HP:0000943), MACROGLOSSIA(HP:0000158), CEREBRAL ATROPHY(HP:0002059), FULL LIPS(HP:0000170), MUSCULAR HYPOTONIA(HP:0001252), FRONTAL BOSSING(HP:0002007), SEIZURES(HP:0001250), BROAD NOSE(HP:0000445), MENTAL RETARDATION(HP:0001249), SPLENOMEGALY(HP:0001744), POLYNEUROPATHY(HP:0001271), ABSENT/HYPOPLASTIC COCCYX(HP:0008436), COXA VALGA(HP:0002673), DECREASED BODY HEIGHT(HP:0004322), ANGIOKERATOMA(HP:0001014), LUMBAR HYPERLORDOSIS(HP:0002938), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), TORTUOSITY OF CONJUNCTIVAL VESSELS(HP:0000503), SCOLIOSIS(HP:0002650), CERVICAL PLATYSPONDYLY(HP:0004558), ANHIDROSIS(HP:0000970), VACUOLATED LYMPHOCYTES(HP:0001922)]
2519	FUCA2	[METABOLISM ABNORMALITY(HP:0001939), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
2523	FUT1	[HEMATOLOGICAL ABNORMALITY(HP:0001871), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
2532	DARC	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715)]
2538	G6PC	[DELAYED PUBERTY(HP:0000823), HYPERTENSION(HP:0000822), GOUTY ARTHRITIS(HP:0001368), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), OSTEOPOROSIS(HP:0000939), LIVER TRANSAMINASES NORMAL TO SLIGHTLY INCREASED(HP:0003143), BLEEDING DIATHESIS(HP:0001892), DECREASED MUSCLE MASS(HP:0003199), KIDNEY STONES(HP:0000787), PANCREATITIS(HP:0001733), HEPATOCELLULAR CARCINOMA(HP:0001402), 'DOLL-LIKE' FACIES(HP:0000295), LIPEMIA RETINALIS(HP:0000660), DECREASED BODY HEIGHT(HP:0004322), INTERMITTENT DIARRHEA(HP:0002254), PROTEINURIA(HP:0000093), HEPATOMEGALY(HP:0002240), HYPERLIPIDEMIA(HP:0003077), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), XANTHOMATOSIS(HP:0000991), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), FOCAL SEGMENTAL GLOMERULOSCLEROSIS(HP:0000097), PROTUBERANT ABDOMEN(HP:0001538), ENLARGED KIDNEYS(HP:0000105), HYPERURICEMIA(HP:0002149), REDUCED CREATININE CLEARANCE(HP:0000120)]
2539	G6PD	[JAUNDICE(HP:0000952), EPISODIC HEMOLYTIC ANEMIA(HP:0004802), NORMOCYTIC ANEMIA(HP:0001897), CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0004824), DRUG-SENSITIVE HEMOLYTIC ANEMIAS(HP:0004817), NORMOCHROMIC ANEMIA(HP:0001895), IMMUNOLOGICAL ABNORMALITY(HP:0002715), SPLENOMEGALY(HP:0001744), CHOLECYSTITIS(HP:0001082), CHOLELITHIASIS(HP:0001081), GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY(HP:0003568)]
2542	SLC37A4	[DELAYED PUBERTY(HP:0000823), HYPERTENSION(HP:0000822), GOUTY ARTHRITIS(HP:0001368), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KETONEMIA(HP:0003543), HEMATURIA(HP:0000790), RECURRENT BACTERIAL INFECTIONS(HP:0002718), KIDNEY STONES(HP:0000787), HEPATOCELLULAR CARCINOMA(HP:0001402), NEUTROPENIA(HP:0001875), CHRONIC PANCREATITIS(HP:0006280), 'DOLL-LIKE' FACIES(HP:0000295), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), HEPATOMEGALY(HP:0002240), FOCAL SEGMENTAL GLOMERULOSCLEROSIS(HP:0000097), PROTUBERANT ABDOMEN(HP:0001538), ENLARGED KIDNEYS(HP:0000105), REDUCED CREATININE CLEARANCE(HP:0000120), ORAL ULCERS(HP:0000155), OSTEOPOROSIS(HP:0000939), LIVER TRANSAMINASES NORMAL TO SLIGHTLY INCREASED(HP:0003143), LIPEMIA RETINALIS(HP:0000660), PULMONARY HYPERTENSION(HP:0002092), DECREASED BODY HEIGHT(HP:0004322), CAPILLARY HEMANGIOMAS(HP:0005306), HYPERLIPIDEMIA(HP:0003077), METABOLIC ACIDOSIS(HP:0001942), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), XANTHOMATOSIS(HP:0000991), HEPATOBLASTOMA(HP:0002884), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), HYPERURICEMIA(HP:0002149)]
2548	GAA	[CARDIOMEGALY(HP:0001640), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), WEAKNESS(HP:0002309), PROXIMAL MUSCLE WEAKNESS(HP:0003701), MACROGLOSSIA(HP:0000158), MUSCULAR HYPOTONIA(HP:0001252), SLOW PROGRESSION(HP:0003677), SPLENOMEGALY(HP:0001744), DYSPNEA(HP:0002094), RESPIRATORY INSUFFICIENCY(HP:0002093), CEREBRAL ANEURYSM(HP:0004944), SHORTENED P-R INTERVAL ON EKG(HP:0005165), WOLF-PARKINSON-WHITE SYNDROME(HP:0001716), ABNORMAL MYELINATION(HP:0002520), HEPATOMEGALY(HP:0002240), INCREASED CREATINE KINASE(HP:0003078), DIAPHRAGMATIC PARALYSIS(HP:0006597), FEVER(HP:0001945), FIRM MUSCLES(HP:0003725), HEARING LOSS(HP:0000365), ABSENT DEEP TENDON REFLEXES(HP:0001314), LATE ONSET(HP:0003584)]
2556	GABRA3	[X-LINKED INHERITANCE(HP:0001417)]
2566	GABRG2	[STATUS EPILEPTICUS(HP:0002133), UNILATERAL CLONIC SEIZURES(HP:0006813), FEBRILE SEIZURES(HP:0002373), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), COMPLEX PARTIAL SEIZURES(HP:0002384), ABSENCE SEIZURES(HP:0002121), MYOCLONIC SEIZURES(HP:0002123), PSYCHOMOTOR RETARDATION(HP:0001255), ATAXIA(HP:0001251), FEVER(HP:0001945), MENTAL DETERIORATION(HP:0001268), ONSET IN FIRST YEAR OF LIFE(HP:0003599)]
2571	GAD1	[CONTRACTURES(HP:0001371), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERREFLEXIA(HP:0001347), BABINSKI SIGN(HP:0003487), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), SPASTIC DIPLEGIA(HP:0001264), HYPERTONIA(HP:0001276), ONSET IN INFANCY(HP:0003576)]
2581	GALC	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERACTIVE DEEP TENDON REFLEXES(HP:0006801), DEAFNESS(HP:0000404), NEURODEGENERATION(HP:0002180), MOTOR DETERIORATION(HP:0002333), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), ABNORMAL FLASH VISUAL EVOKED POTENTIALS(HP:0007928), VOMITING(HP:0002013), EEG ABNORMALITIES(HP:0002353), FAILURE TO THRIVE(HP:0001508), ONSET IN ADULTHOOD(HP:0003581), HYPERTONIA(HP:0001276), DIFFUSE CEREBRAL ATROPHY(HP:0002506), BLINDNESS(HP:0000618), INCREASED CSF PROTEIN(HP:0002922), DEVELOPMENTAL REGRESSION(HP:0002376), CHRONIC IMMUNE THROMBOCYTOPENIA(HP:0004806), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), HYDROCEPHALUS(HP:0000238), SENSORIMOTOR NEUROPATHY(HP:0007141), DEMYELINATION(HP:0003381)]
2582	GALE	[JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DELAYED GROSS MOTOR DEVELOPMENT(HP:0002194), HEARING LOSS, SENSORINEURAL(HP:0000407), LANGUAGE DELAY(HP:0002336), MUSCULAR HYPOTONIA(HP:0001252), GALACTOSE INTOLERANCE(HP:0004919), DEVELOPMENTAL RETARDATION(HP:0001263), VOMITING(HP:0002013), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), HEPATOMEGALY(HP:0002240), COGNITIVE DELAY(HP:0002532), AMINOACIDURIA(HP:0002903)]
2584	GALK1	[NEONATAL JAUNDICE(HP:0000986), CATARACT(HP:0000518), GALACTOSE INTOLERANCE(HP:0004919), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERBILIRUBINEMIA(HP:0002904)]
2588	GALNS	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILDLY COARSE FACIES(HP:0000281), INGUINAL HERNIA(HP:0000023), CONSTRICTED ILIAC WINGS(HP:0003277), ABNORMALITY OF THE HEART VALVES(HP:0001654), CORNEAL CLOUDING(HP:0000515), MILD HEPATOMEGALY(HP:0001398), JOINT LAXITY(HP:0001388), OVOID VERTEBRAL BODIES(HP:0003300), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), CERVICAL SUBLUXATION(HP:0003308), HYPERLORDOSIS(HP:0003307), MANDIBULAR PROGNATHIA(HP:0000303), ULNAR DEVIATION OF THE WRIST(HP:0003049), KYPHOSIS(HP:0002808), EPIPHYSEAL DEFORMITIES OF TUBULAR BONES(HP:0003053), PROMINENT STERNUM(HP:0000884), METAPHYSEAL WIDENING(HP:0003016), SHORT-TRUNKED DWARFISM(HP:0003500), HEARING LOSS(HP:0000365), WIDELY SPACED TEETH(HP:0000687), POINTED PROXIMAL SECOND THROUGH FIFTH METACARPALS(HP:0001223), GRAYISH ENAMEL(HP:0000683), CERVICAL MYELOPATHY(HP:0002318), GENU VALGUM(HP:0002857), WIDE MOUTH(HP:0000154), OSTEOPOROSIS(HP:0000939), PLATYSPONDYLY(HP:0000926), FREQUENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0001740), CARIOUS TEETH(HP:0000670), FLARING OF RIB CAGE(HP:0000904), RESTRICTIVE LUNG DISEASE(HP:0002091), COXA VALGA(HP:0002673), ONSET BETWEEN 1-3 YEARS(HP:0003625), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), SCOLIOSIS(HP:0002650)]
2591	GALNT3	[ANGIOID STREAKS(HP:0001102), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CALCINOSIS(HP:0003761), TAURODONTIA(HP:0000679), ABNORMALITY OF THE SKIN(HP:0000951), THIN DENTAL ENAMEL(HP:0003770), PULP STONES(HP:0003771), VASCULAR CALCIFICATIONS(HP:0004934), CONJUNCTIVAL WHITISH 'SALT-LIKE' DEPOSITS(HP:0007799), DECREASED RENAL TUBULAR PHOSPHATE EXCRETION(HP:0005572), INCREASED RENAL TUBULAR PHOSPHATE REABSORPTION(HP:0005571), HYPERPHOSPHATEMIA(HP:0002905), ONSET IN FIRST DECADE(HP:0003582)]
2592	GALT	[DECREASED LIVER FUNCTION, PROGRESSIVE(HP:0006570), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELEVATED LIVER ENZYMES(HP:0003293), CATARACT(HP:0000518), HYPERCHLOREMIC METABOLIC ACIDOSIS(HP:0004918), GALACTOSE INTOLERANCE(HP:0004919), DIARRHEA(HP:0002014), HEMOLYTIC ANEMIA(HP:0001878), VOMITING(HP:0002013), CIRRHOSIS(HP:0001394), FAILURE TO THRIVE(HP:0001508), MENTAL RETARDATION IF UNTREATED(HP:0003767), PREMATURE OVARIAN FAILURE(HP:0008209), HEPATOMEGALY(HP:0002240), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), GENITOURINARY ABNORMALITY(HP:0000119), AMINOACIDURIA(HP:0002903)]
2593	GAMT	[ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEVELOPMENTAL RETARDATION(HP:0001263), INTRACTABLE SEIZURES(HP:0001303), PROGRESSIVE EXTRAPYRAMIDAL MOVEMENT DISORDER(HP:0007153), INFANTILE MUSCULAR HYPOTONIA(HP:0008947)]
2617	GARS	[PES PLANUS(HP:0001763), PES CAVUS(HP:0001761), HAMMER TOES(HP:0001765), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), FIRST DORSAL INTEROSSEI MUSCLE WEAKNESS(HP:0003392), THENAR MUSCLE ATROPHY(HP:0003393), LIMB MUSCLE WEAKNESS(HP:0003690), DISTAL AMYOTROPHY(HP:0003693), HYPERREFLEXIA(HP:0001347), SLOW PROGRESSION(HP:0003677), COLD-INDUCED HAND CRAMPS(HP:0003435), FIRST DORSAL INTEROSSEI MUSCLE ATROPHY(HP:0003426), THENAR MUSCLE WEAKNESS(HP:0003427), HYPOREFLEXIA(HP:0001265), UPPER LIMB WEAKNESS AND ATROPHY PREDOMINATES(HP:0003471), MEAN AGE OF ONSET 18 YEARS(HP:0003628), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), SCOLIOSIS(HP:0002650)]
2623	GATA1	[HYPOTHYROIDISM(HP:0000821), ANEMIA, DYSERYTHROPOIETIC(HP:0005501), SMALL EARS(HP:0000409), MALAR HYPOPLASIA(HP:0000272), TRANSVERSE PALMAR CREASES(HP:0000954), CONGENITAL THROMBOCYTOPENIA(HP:0001905), BRUSHFIELD SPOTS(HP:0001088), EPICANTHUS(HP:0000286), HEARING LOSS, CONDUCTIVE(HP:0000405), MACROGLOSSIA(HP:0000158), ANAL ATRESIA(HP:0002023), HYPOPLASTIC ILIAC WINGS(HP:0002866), BLEEDING DIATHESIS(HP:0001892), MUSCULAR HYPOTONIA(HP:0001252), MENTAL RETARDATION(HP:0001249), SHALLOW ACETABULAR FOSSAE(HP:0003182), JOINT LAXITY(HP:0001388), SPLENOMEGALY(HP:0001744), DUODENAL STENOSIS/ATRESIA(HP:0005205), EPISTAXIS(HP:0000421), ALZHEIMER DISEASE(HP:0002511), EXCESS NUCHAL SKIN(HP:0000474), ATLANTOAXIAL INSTABILITY(HP:0003467), DECREASED BODY HEIGHT(HP:0004322), SHORT BROAD HANDS(HP:0001174), CONGENITAL MEGACOLON(HP:0002251), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPOPLASTIC/SMALL MIDDLE PHALANX OF THE 5TH FINGER(HP:0004220), ACUTE MEGAKARYOCYTIC LEUKEMIA(HP:0006733), ISOLATED CASES(HP:0001420), UPSLANTING PALPEBRAL FISSURES(HP:0000582), ECCHYMOSES(HP:0000978), POIKILOCYTOSIS(HP:0004447), PROLONGED BLEEDING TIME(HP:0003010), COMPLETE ATRIOVENTRICULAR CANAL(HP:0001674), RETICULOCYTOSIS(HP:0001923), BRACHYCEPHALY(HP:0000248), PERSISTENT BLEEDING AFTER TRAUMA(HP:0001934), PETECHIAE(HP:0000967)]
2625	GATA3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOPARATHYROIDISM(HP:0000829), HEARING LOSS, SENSORINEURAL(HP:0000407), NEPHROSIS(HP:0000801), RENAL DYSPLASIA(HP:0000110), PROGRESSIVE RENAL INSUFFICIENCY(HP:0000106)]
2629	GBA	[CARDIOMEGALY(HP:0001640), RETROGNATHIA(HP:0000278), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ESOTROPIA(HP:0000565), HIGHLY VARIABLE PHENOTYPE(HP:0003815), DECREASED SPONTANEOUS MOVEMENTS AT BIRTH(HP:0006795), OPISTHOTONUS(HP:0002179), SLOWED HORIZONTAL SACCADES(HP:0007885), HYPERREFLEXIA(HP:0001347), VERTEBRAL COMPRESSION FRACTURES(HP:0002953), CORNEAL CLOUDING(HP:0000515), INTERSTITIAL PULMONARY DISEASE(HP:0006530), HEPATIC FAILURE(HP:0001399), HYPERTELORISM(HP:0000316), PANCYTOPENIA(HP:0001876), ARTHROGRYPOSIS(HP:0001390), BULBAR SIGNS(HP:0002483), ONSET IN CHILDHOOD(HP:0003578), PREMATURE BIRTH(HP:0001622), SUPRANUCLEAR OPHTHALMOPLEGIA(HP:0000623), TRIANGULAR FACIES(HP:0000325), SMALL CHEST(HP:0001590), HEPATOMEGALY(HP:0002240), SUPRANUCLEAR GAZE PALSY, HORIZONTAL(HP:0007817), AORTIC STENOSIS DUE TO CALCIFICATIONS(HP:0005173), MYOCLONUS(HP:0001336), LOW-SET EARS(HP:0000369), ASCITES(HP:0001541), CALCIFICATIONS OF THE AORTA(HP:0004963), POLYHYDRAMNIOS(HP:0001561), MITRAL STENOSIS DUE TO CALCIFICATIONS(HP:0005149), DECREASED FETAL MOVEMENT(HP:0001558), PATHOLOGIC FRACTURE(HP:0002756), 'ERLENMEYER FLASK' DEFORMITY OF THE FEMURS(HP:0004975), PES CAVUS(HP:0001761), AKINESIA(HP:0002304), SMALL EARS(HP:0000409), HYPERPIGMENTATION(HP:0000953), ICHTHYOSIS(HP:0000955), SPASTIC PARAPARESIS(HP:0002313), DESQUAMATION OF SKIN SOON AFTER BIRTH(HP:0007549), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL ATROPHY(HP:0002059), NONIMMUNE HYDROPS FETALIS(HP:0001790), RIGIDITY(HP:0002063), FULL LIPS(HP:0000170), RESPIRATORY DISTRESS(HP:0002098), NASAL HYPOPLASIA(HP:0003196), ATAXIA(HP:0001251), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), RECURRENT ASPIRATION PNEUMONIA(HP:0002106), MICROSTOMIA(HP:0000160), APNEA(HP:0002104), POOR WEIGHT GAIN(HP:0001535), DYSPHAGIA(HP:0002015), FLATTENED NASAL BRIDGE(HP:0000425), SPLENOMEGALY(HP:0001744), DECREASED BETA-GLUCOCEREBROSIDASE PROTEIN AND ACTIVITY(HP:0003656), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), INTRAUTERINE GROWTH RETARDATION(HP:0001511), NYSTAGMUS, HORIZONTAL(HP:0000666), ADULT ONSET HAS BEEN REPORTED(HP:0003662), PULMONARY HYPOPLASIA(HP:0002089), EPISTAXIS(HP:0000421), OCULOMOTOR APRAXIA(HP:0000657), PULMONARY HYPERTENSION(HP:0002092), HYPOKINESIA(HP:0002375), HYPERSPLENISM(HP:0001971), LARYNGEAL STRIDOR(HP:0006511), DECREASED BODY HEIGHT(HP:0004322), APATHY(HP:0000741), OPEN MOUTH(HP:0000194), NARES, ANTEVERTED(HP:0000463), PULMONARY INFILTRATES(HP:0002113), MICROGNATHIA(HP:0000210), MYOCLONIC SEIZURES(HP:0002123), TRISMUS(HP:0000211), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), HYDROCEPHALUS(HP:0000238), HYDROPS(HP:0000990), INCREASED RISK FOR MULTIPLE MYELOMA(HP:0006775), DEPRESSION(HP:0000716), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), AGGRESSIVE BEHAVIOR(HP:0000718), PURPURA(HP:0000979), HYPOMETRIC HORIZONTAL SACCADES(HP:0007975), BONE PAIN(HP:0002653), EDEMA(HP:0000969), MICROCEPHALY(HP:0000252), HYPERKERATOSIS(HP:0000962), PETECHIAE(HP:0000967), DEMENTIA(HP:0000726)]
2632	GBE1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ESOPHAGEAL VARICES(HP:0002040), CARDIOMYOPATHY(HP:0001638), NONPROGRESSIVE DISORDER(HP:0003680), HYDROPS FETALIS(HP:0001789), MUSCULAR HYPOTONIA(HP:0001252), HEPATIC FAILURE(HP:0001399), CIRRHOSIS(HP:0001394), FAILURE TO THRIVE(HP:0001508), HEPATOSPLENOMEGALY(HP:0001433), ARTHROGRYPOSIS MULTIPLEX CONGENITA(HP:0002804), PORTAL HYPERTENSION(HP:0001409), AMYOTROPHY(HP:0003202), METABOLISM ABNORMALITY(HP:0001939), ASCITES(HP:0001541), POLYHYDRAMNIOS(HP:0001561), MUSCLE WEAKNESS(HP:0001324), DECREASED FETAL MOVEMENT(HP:0001558), WEAK OR ABSENT DEEP TENDON REFLEXES(HP:0001316)]
2639	GCDH	[SYMMETRICAL PROGRESSIVE DEMYELINATION(HP:0006873), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KETONURIA(HP:0002919), INFANTILE ENCEPHALOPATHY(HP:0007105), KETONEMIA(HP:0003543), MACROCEPHALY(HP:0000256), GLUTARIC ACIDURIA(HP:0003150), OPISTHOTONUS(HP:0002179), HEPATOMEGALY(HP:0002240), METABOLIC ACIDOSIS(HP:0001942), HYPOGLYCEMIA(HP:0001943), MUSCULAR HYPOTONIA(HP:0001252), DILATION OF LATERAL VENTRICLES(HP:0006956), DYSTONIA(HP:0001332), FAILURE TO THRIVE(HP:0001508), CHOREOATHETOSIS(HP:0001266), SPASTIC DIPLEGIA(HP:0001264)]
2643	GCH1	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), LIMB HYPERTONIA(HP:0002509), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), DYSTONIA(HP:0001332), ATYPICAL HYPERPHENYLALANINEMIA(HP:0004922), HYPERPHENYLALANINEMIA(HP:0004923), SEVERE MUSCULAR HYPOTONIA(HP:0006829), HYPERTONIA(HP:0001276), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
2645	GCK	[NONINSULIN-DEPENDENT DIABETES MELLITUS(HP:0005978), MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPERINSULINEMIC HYPOGLYCEMIA(HP:0000825), PROMINENT METOPIC SUTURE(HP:0005487), EARLY ONSET, MILD AND RELATIVELY UNCOMPLICATED COURSE(HP:0003672), DOWNTURNED CORNERS OF MOUTH(HP:0002714), IMMUNOLOGICAL ABNORMALITY(HP:0002715), SMALL, SHORT NOSE(HP:0003192), DEVELOPMENTAL RETARDATION(HP:0001263), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), KETOACIDOSIS(HP:0001993), LOW BIRTH WEIGHT(HP:0001518), INSULIN-DEPENDENT MATURITY-ONSET DIABETES OF THE YOUNG(HP:0004904), BETA-CELL DYSFUNCTION(HP:0006279), LONG PHILTRUM(HP:0000343), HETEROGENEOUS(HP:0001425), CLINODACTYLY OF HANDS(HP:0001157), NARES, ANTEVERTED(HP:0000463), MENTAL RETARDATION DUE TO REPEATED EPISODES OF HYPOGLYCEMIA(HP:0002386), HYPSARRHYTHMIA(HP:0002521), HYPERGLYCEMIA(HP:0003074), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LOSS OF CONSCIOUSNESS(HP:0007185), LIMB CONTRACTURES(HP:0003121), SEIZURES, HYPOGLYCEMIC(HP:0002173), MUSCLE WEAKNESS(HP:0001324), HYPOGLYCEMIC COMA(HP:0001325), ABNORMALITY OF THE EARS(HP:0000598), LATE ONSET(HP:0003584)]
2652	OPN1MW	[PROGRESSIVE MACULAR SCARRING(HP:0007949), ALMOST COMPLETE COLORBLINDNESS EXCEPT ABILITY TO SEE BLUE(HP:0007939), X-LINKED INHERITANCE(HP:0001417), POOR COLOR DISCRIMINATION(HP:0007954)]
2653	GCSH	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IRRITABILITY(HP:0000737), HYPERACTIVITY(HP:0000752), LETHARGY(HP:0001254), MYOCLONUS(HP:0001336), MUSCULAR HYPOTONIA(HP:0001252), NONKETOTIC HYPERGLYCINEMIA(HP:0008288), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEATH IN INFANCY(HP:0001522), AGGRESSIVE BEHAVIOR(HP:0000718), RESTLESSNESS(HP:0000711), HYPOREFLEXIA(HP:0001265), AGENESIS OF CORPUS CALLOSUM(HP:0001274), HYPERGLYCINURIA(HP:0003108)]
2657	GDF1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BROAD FOREHEAD(HP:0000337), PREAURICULAR SINUS(HP:0004467), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TETRALOGY OF FALLOT(HP:0001636), DOUBLE OUTLET RIGHT VENTRICLE(HP:0001719), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), METABOLISM ABNORMALITY(HP:0001939), PROMINENT EYES(HP:0000536)]
2664	GDI1	[MULTIPLE LOCI(HP:0001461), MENTAL RETARDATION(HP:0001249), X-LINKED INHERITANCE(HP:0001417)]
2668	GDNF	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE MOUTH(HP:0000153), ENTEROCOLITIS(HP:0004387), CONSTIPATION(HP:0002019), ABDOMINAL DISTENTION(HP:0003270), CONGENITAL MEGACOLON(HP:0002251), BARIUM ENEMA SHOWS TRANSITION ZONE BETWEEN AGANGLIONIC CONTRACTED SEGMENT AND DILATED PROXIMAL BOWEL(HP:0002606), LOW-SET EARS(HP:0000369), METABOLISM ABNORMALITY(HP:0001939), NEUROLOGICAL ABNORMALITY(HP:0000707), VOMITING(HP:0002013), POSTERIORLY ROTATED EARS(HP:0000358), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
2670	GFAP	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCREASED CSF PROTEIN(HP:0002922), JUVENILE ONSET(HP:0003621), HYDROCEPHALUS(HP:0000238), ATAXIA(HP:0001251), SEIZURES(HP:0001250), METABOLISM ABNORMALITY(HP:0001939), SPASTICITY(HP:0001257), PSYCHOMOTOR REGRESSION(HP:0002489), ONSET IN ADOLESCENCE(HP:0003590), DIFFUSE DEMYELINATION(HP:0006881), MACROCEPHALY, PROGRESSIVE(HP:0004481), BULBAR SIGNS(HP:0002483), ONSET IN INFANCY(HP:0003576), ONSET IN CHILDHOOD(HP:0003578)]
2677	GGCX	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NASAL HYPOPLASIA(HP:0003196), HEMARTHROSES(HP:0001391), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), EPISTAXIS(HP:0000421), PROLONGED PARTIAL THROMBOPLASTIN TIME(HP:0003645), STIPPLING OF THE EPIPHYSES(HP:0010655), NEONATAL BLEEDING TENDENCY(HP:0004830), ECCHYMOSES(HP:0000978)]
2683	B4GALT1	[MYOPATHY(HP:0003198), MUSCULAR HYPOTONIA(HP:0001252), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEVELOPMENTAL RETARDATION(HP:0001263), MACROCEPHALY(HP:0000256), INCREASED SERUM CREATINE KINASE(HP:0002147), ABNORMALITY OF COAGULATION(HP:0001928)]
2688	GH1	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE FACE(HP:0000271), HYPOGLYCEMIA(HP:0001943), IMMUNOLOGICAL ABNORMALITY(HP:0002715), ISOLATED GROWTH HORMONE DEFICIENCY(HP:0000861), PITUITARY DWARFISM(HP:0000839), DWARFISM(HP:0001516)]
2690	GHR	[SMALL FACE(HP:0000274), METABOLISM ABNORMALITY(HP:0001939), MARKED DELAY IN BONE AGE(HP:0003799), ENDOCRINE ABNORMALITY(HP:0000818), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE JOINTS(HP:0001367), HYPOPLASIA INVOLVING BONES OF THE EXTREMITIES(HP:0009826), DECREASED BODY HEIGHT(HP:0004322), GENITOURINARY ABNORMALITY(HP:0000119), BLUE SCLERAE(HP:0000592), HIGH PITCHED VOICE(HP:0001620)]
2693	GHSR	[DECREASED BODY HEIGHT(HP:0004322)]
2694	GIF	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PARESTHESIA(HP:0003401), ABSENCE OF INTRINSIC FACTOR BY IMMUNOASSAY OF GASTRIC JUICES(HP:0005219), SENSORY IMPAIRMENT(HP:0003474), MEGALOBLASTIC ANEMIA(HP:0001889), METABOLISM ABNORMALITY(HP:0001939), IMMUNOLOGICAL ABNORMALITY(HP:0002715), ERYTHROCYTE MACROCYTOSIS(HP:0005518), ONSET IN CHILDHOOD(HP:0003578)]
2695	GIP	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ENDOCRINE ABNORMALITY(HP:0000818)]
2697	GJA1	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERACTIVE DEEP TENDON REFLEXES(HP:0006801), SCAPHOCEPHALY(HP:0000258), MACROCEPHALY(HP:0000256), CRYPTORCHIDISM(HP:0000028), 3-4 TOE SYNDACTYLY(HP:0009779), MICROPHTHALMOS(HP:0000568), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), CATARACT(HP:0000518), THIN HAIR(HP:0002237), PROMINENT EPICANTHAL FOLDS(HP:0007930), HYPOPLASTIC LEFT HEART(HP:0004383), SPARSE EYEBROWS(HP:0000535), VENTRICULAR SEPTAL DEFECT(HP:0001629), CUBITUS VALGUS(HP:0002967), JOINT HYPERMOBILITY(HP:0001382), PLATYBASIA(HP:0002691), CHOROID COLOBOMA(HP:0000611), THIN RIBS(HP:0000883), IRIS COLOBOMA(HP:0000612), ABNORMALITY OF THE CEREBRAL WHITE MATTER(HP:0002500), ALL CASES SPORADIC(HP:0003769), SELECTIVE TOOTH AGENESIS(HP:0001592), THIN, GRACILE LONG BONES(HP:0003060), NYSTAGMUS(HP:0000639), METAPHYSEAL WIDENING(HP:0003016), TRACHEOMALACIA(HP:0002779), LOW-SET EARS(HP:0000369), BLEPHAROPHIMOSIS(HP:0000581), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), OPTIC NERVE COLOBOMA(HP:0000588), SPARSE, FINE HAIR(HP:0002291), BLUE SCLERAE(HP:0000592), PROPORTIONATE SHORT STATURE(HP:0003508), DECREASED NUMBER OF STERNAL OSSIFICATION CENTERS(HP:0006611), TETRAPARESIS(HP:0002273), DRY SKIN(HP:0000958), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), TAURODONTIA(HP:0000679), HEARING LOSS, CONDUCTIVE(HP:0000405), SUPERNUMERARY TEETH(HP:0000672), OBSTRUCTIVE SLEEP APNEA(HP:0002870), HIGH-ARCHED PALATE(HP:0000156), MISSHAPEN TEETH(HP:0000697), NEONATAL TEETH(HP:0000695), MICRODONTIA(HP:0000691), DENTAL MALOCCLUSION(HP:0000689), HYPOTRICHOSIS OF THE SCALP(HP:0004782), SPARSE EYELASHES(HP:0000653), CLEFT PALATE(HP:0000175), ATAXIA(HP:0001251), FRONTAL BOSSING(HP:0002007), NARROW NASAL BRIDGE(HP:0000446), MENTAL RETARDATION(HP:0001249), JOINT CONTRACTURES OF THE 5TH FINGER(HP:0009183), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), MICROSTOMIA(HP:0000160), DYSARTHRIA(HP:0001260), SPARSE, SLOW-GROWING HAIR(HP:0004770), DISLOCATED HIPS(HP:0002827), SPASTICITY(HP:0001257), TRICUSPID AND MITRAL VALVES ARE REPLACED BY A SINGLE INLET VALVE(HP:0006695), BROAD ALVEOLAR RIDGES(HP:0000187), CARIOUS TEETH(HP:0000670), CHOREOATHETOSIS(HP:0001266), THIN ANTEVERTED NARES(HP:0004495), VERTEBRAL HYPEROSTOSIS(HP:0008442), HYPOPLASTIC NASAL ALAE(HP:0000430), LOW BIRTH WEIGHT(HP:0001518), RECURRENT PNEUMONIA(HP:0002095), PULMONARY HYPERTENSION(HP:0002092), DERMAL ATROPHY(HP:0004334), CLEFT LIP(HP:0000204), BASAL GANGLIA CALCIFICATION(HP:0002135), TELANGIECTASIA(HP:0001009), SOFT TISSUE SYNDACTYLY OF TOES 2, 3, AND 4(HP:0005768), FIFTH FINGER DISTAL PHALANX CLINODACTYLY(HP:0005769), PECTUS EXCAVATUM(HP:0000767), PARAPARESIS(HP:0002385), THIN LIPS(HP:0000213), LORDOSIS(HP:0002939), HYPERACTIVITY(HP:0000752), EPIDERMOLYTIC HYPERKERATOSIS(HP:0007475), SMALL, POINTED NOSE(HP:0000450), MICROGNATHIA(HP:0000210), ISOLATED CASES(HP:0001420), WORMIAN BONES(HP:0002645), METABOLISM ABNORMALITY(HP:0001939), TELECANTHUS(HP:0000506), AUTOSOMAL DOMINANT WITH VARIABLE EXPRESSION AND INCOMPLETE PENETRANCE(HP:0001463), EVERTED LOWER LIP(HP:0000232), GLAUCOMA(HP:0000501), SPINA BIFIDA(HP:0002414), SCOLIOSIS(HP:0002650), SHORT 5TH FINGER WITH ABSENT/RUDIMENTARY MIDDLE PHALANX(HP:0005813), MICROCEPHALY(HP:0000252), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), BRACHYCEPHALY(HP:0000248), PREMATURE LOSS OF TEETH(HP:0006480), ALSO A DOMINANT FORM(HP:0001448), CYANOSIS(HP:0000961), STRABISMUS(HP:0000486), PARIETAL BOSSING(HP:0000242), MICROCORNEA(HP:0000482)]
2702	GJA5	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ATRIAL FIBRILLATION, ISOLATED(HP:0001715), THROMBOEMBOLIC STROKE MAY OCCUR(HP:0001727), TACHYCARDIA(HP:0001649), IRREGULAR HEART BEAT(HP:0001721)]
2703	GJA8	[IRIS COLOBOMA(HP:0000612), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), CONGENITAL CATARACT(HP:0000519), SCLEROCORNEA(HP:0000647), PETERS ANOMALY(HP:0000659), MICROCORNEA(HP:0000482)]
2705	GJB1	[PES CAVUS(HP:0001761), INCOMPLETE PENETRANCE(HP:0003829), AXONAL DEGENERATION(HP:0000764), PARAPARESIS(HP:0002385), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), X-LINKED DOMINANT INHERITANCE(HP:0001423), DYSARTHRIA(HP:0001260), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003431), DYSPHAGIA(HP:0002015), HYPOREFLEXIA(HP:0001265), DECREASED NUMBER OF MYELINATED FIBERS(HP:0003380), MOTOR APHASIA(HP:0002427)]
2706	GJB2	[PES CAVUS(HP:0001761), AMNIOTIC BANDS(HP:0009775), KERATOCONJUNCTIVITIS SICCA(HP:0001097), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ICHTHYOSIS(HP:0000955), ORAL LEUKOPLAKIA(HP:0002745), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), SQUAMOUS CELL CARCINOMA(HP:0002860), DEAFNESS(HP:0000404), KNEE CONTRACTURES(HP:0002978), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), NAIL DYSTROPHY, VARIABLE(HP:0008404), TRICHIASIS(HP:0001128), HIGH, NARROW FOREHEAD(HP:0004674), PHOTOPHOBIA(HP:0000613), BLINDNESS(HP:0000618), AUTOAMPUTATION OF DIGITS(HP:0007460), FURROWED TONGUE(HP:0000221), CONGENITAL ICHTHYOSIS(HP:0007484), LEUKONYCHIA(HP:0001820), RECURRENT BACTERIAL SKIN INFECTIONS(HP:0005406), RECURRENT CORNEAL EROSIONS(HP:0000495), PALMOPLANTAR HYPERKERATOSIS(HP:0000972), SCANT EYELASHES(HP:0007853), HYPOHIDROSIS(HP:0000966)]
2707	GJB3	[PALMOPLANTAR KERATODERMA, PATCHY(HP:0005588), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPERKERATOSIS, GENERALIZED(HP:0005595), ONSET IN INFANCY(HP:0003576)]
2710	GK	[ESOTROPIA(HP:0000565), OSTEOPOROSIS(HP:0000939), X-LINKED INHERITANCE(HP:0001417), METABOLIC ACIDOSIS(HP:0001942), MYOPATHY(HP:0003198), MENTAL RETARDATION(HP:0001249), GROWTH RETARDATION(HP:0001510), ADRENOCORTICAL HYPOPLASIA(HP:0008182), EPISODIC VOMITING(HP:0002572), ADRENAL INSUFFICIENCY(HP:0000846), PATHOLOGIC FRACTURE(HP:0002756)]
2717	GLA	[DELAYED PUBERTY(HP:0000823), HYPERTENSION(HP:0000822), CONGESTIVE HEART FAILURE(HP:0001635), MYOCARDIAL INFARCTION(HP:0001658), NAUSEA(HP:0002018), TRANSIENT ISCHEMIC ATTACK(HP:0002326), ANEMIA(HP:0001903), ABDOMINAL PAIN(HP:0002027), SEIZURES(HP:0001250), VOMITING(HP:0002013), ABNORMALITY OF THE EYES(HP:0000478), ABNORMALITY OF THE HAND(HP:0001155), ANGIOKERATOMA(HP:0001014), AUTONOMIC DYSFUNCTION(HP:0002387), MILD OBSTRUCTIVE LUNG DISEASE(HP:0006512), LYMPHEDEMA(HP:0001004), RENAL FAILURE(HP:0000083), X-LINKED RECESSIVE INHERITANCE(HP:0001419), PROTEINURIA(HP:0000093), LEFT VENTRICULAR WALL HYPERTROPHY(HP:0005171), ONSET USUALLY IN CHILDHOOD OR ADOLESCENCE(HP:0003620), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), LEFT VENTRICULAR SEPTAL HYPERTROPHY(HP:0005144), ANGINA PECTORIS(HP:0001681), HYPOHIDROSIS(HP:0000966)]
2719	GPC3	[PULMONIC STENOSIS(HP:0001642), TALIPES EQUINOVARUS(HP:0001762), PATENT DUCTUS ARTERIOSUS(HP:0001643), NARROW SACROILIAC NOTCH(HP:0008803), ACCELERATED SKELETAL MATURATION(HP:0005616), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), COARSE FACIAL FEATURES(HP:0000280), CARDIOMYOPATHY(HP:0001638), EPICANTHUS(HP:0000286), SHORT, BROAD FEET(HP:0001773), NARROW SACROILIAC NOTCHES IN INFANCY(HP:0008815), FLARED ILIAC WINGS(HP:0002869), VERTEBRAL SEGMENTATION DEFECTS(HP:0003422), MACROCEPHALY(HP:0000256), TWO CARPAL OSSIFICATION CENTERS PRESENT AT BIRTH(HP:0006176), 2-3 FINGER SYNDACTYLY(HP:0001233), MACROGLOSSIA(HP:0000158), INGUINAL HERNIA(HP:0000023), PREAURICULAR SKIN TAG(HP:0000384), CRYPTORCHIDISM(HP:0000028), DENTAL MALOCCLUSION(HP:0000689), BROAD PHALANGES OF THE THUMB(HP:0009651), NASAL HYPOPLASIA(HP:0003196), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), ISLETS OF LANGERHANS HYPERPLASIA(HP:0004510), HYPERTELORISM(HP:0000316), SIX LUMBAR VERTEBRAE(HP:0008416), HYPOSPADIAS(HP:0000047), FLAT, BROAD NASAL BRIDGE(HP:0000439), SPLENOMEGALY(HP:0001744), UPTURNED NOSE(HP:0000427), INTESTINAL MALROTATION(HP:0002566), POLYSPLENIA(HP:0001748), VENTRICULAR SEPTAL DEFECT(HP:0001629), DISHARMONIOUS CARPAL BONE(HP:0006153), DUPLICATION OF RENAL PELVIS(HP:0005580), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), AGENESIS OF CORPUS CALLOSUM(HP:0001274), DIAPHRAGMATIC HERNIA(HP:0000776), MACROSTOMIA(HP:0000181), SOMATIC MUTATION(HP:0001428), PREAURICULAR SINUS(HP:0004467), CERVICAL RIBS(HP:0000891), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), BROAD TOES(HP:0001837), BROAD SECONDARY ALVEOLAR RIDGE(HP:0000216), PECTUS EXCAVATUM(HP:0000767), SHORT BROAD HANDS(HP:0001174), X-LINKED RECESSIVE INHERITANCE(HP:0001419), MECKEL DIVERTICULUM(HP:0002245), LUNG SEGMENTATION DEFECTS(HP:0006525), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), HEPATOMEGALY(HP:0002240), TRANSPOSITION OF THE GREAT VESSELS(HP:0001669), HYDROCEPHALUS(HP:0000238), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), DIASTASIS RECTI(HP:0001540), SCOLIOSIS(HP:0002650), RENAL CYSTS(HP:0000107), UMBILICAL HERNIA(HP:0001537), ENLARGED KIDNEYS(HP:0000105), SUBMUCOUS CLEFT LIP(HP:0009101), CEREBELLAR VERMIS HYPOPLASIA(HP:0001320), EMBRYONAL TUMORS(HP:0002898), SUPERNUMERARY NIPPLES(HP:0002558), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), HEARING LOSS(HP:0000365), BIRTH LENGTH GREATER THAN 97TH PERCENTILE(HP:0003517), NAIL HYPOPLASIA(HP:0001792)]
2720	GLB1	[DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), MILDLY COARSE FACIES(HP:0000281), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), INGUINAL HERNIA(HP:0000023), CONSTRICTED ILIAC WINGS(HP:0003277), SLURRED SPEECH(HP:0001350), ABNORMALITY OF THE HEART VALVES(HP:0001654), HYPOPLASTIC ACETABULAE(HP:0003274), CORNEAL CLOUDING(HP:0000515), BETA-GALACTOSIDASE DEFICIENCY IN FIBROBLASTS AND WHITE BLOOD CELLS(HP:0008300), MILD HEPATOMEGALY(HP:0001398), HYPERTELORISM(HP:0000316), JOINT LAXITY(HP:0001388), OVOID VERTEBRAL BODIES(HP:0003300), JOINT STIFFNESS(HP:0001387), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), CERVICAL SUBLUXATION(HP:0003308), HYPERLORDOSIS(HP:0003307), MANDIBULAR PROGNATHIA(HP:0000303), ULNAR DEVIATION OF THE WRIST(HP:0003049), SPASTIC TETRAPLEGIA(HP:0002510), KYPHOSIS(HP:0002808), BROAD RIBS(HP:0000885), EPIPHYSEAL DEFORMITIES OF TUBULAR BONES(HP:0003053), PROMINENT STERNUM(HP:0000884), ABNORMALITY OF THE URINARY TRACT(HP:0000079), HYPOPLASTIC VERTEBRAL BODIES(HP:0008479), GAIT DISTURBANCE(HP:0001288), AMYOTROPHY(HP:0003202), FULL FOREHEAD(HP:0000333), CEREBRAL DEGENERATION(HP:0007313), METAPHYSEAL WIDENING(HP:0003016), ANGIOKERATOMA CORPORIS DIFFUSUM(HP:0001071), SHORT-TRUNKED DWARFISM(HP:0003500), DYSTONIA(HP:0001332), HEARING LOSS(HP:0000365), WIDELY SPACED TEETH(HP:0000687), POINTED PROXIMAL SECOND THROUGH FIFTH METACARPALS(HP:0001223), GRAYISH ENAMEL(HP:0000683), CERVICAL MYELOPATHY(HP:0002318), GENU VALGUM(HP:0002857), DEVELOPMENTAL ARREST(HP:0007281), FLARED ILIAC WINGS(HP:0002869), WIDE MOUTH(HP:0000154), OSTEOPOROSIS(HP:0000939), PROGRESSIVE PSYCHOMOTOR DETERIORATION(HP:0007272), MILD ANTERIOR BEAKING OF LUMBAR VERTEBRAE(HP:0008430), OPTIC ATROPHY(HP:0000648), DEATH IN INFANCY(HP:0001522), FREQUENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0001740), CEREBRAL ATROPHY, MILD, DIFFUSE(HP:0006954), MENTAL RETARDATION, MILD(HP:0001256), SPLENOMEGALY(HP:0001744), CARIOUS TEETH(HP:0000670), FLARING OF RIB CAGE(HP:0000904), RESTRICTIVE LUNG DISEASE(HP:0002091), COXA VALGA(HP:0002673), SHORT NECK(HP:0000470), 'SEA-BLUE' HISTIOCYTES(HP:0001982), INTIMAL THICKENING IN THE CORONARY ARTERIES(HP:0005292), VENTRICULOMEGALY(HP:0002119), FLAT NOSE(HP:0000457), ONSET BETWEEN 1-3 YEARS(HP:0003625), GINGIVAL HYPERPLASIA(HP:0000212), MILD PLATYSPONDYLY(HP:0002940), MYOCLONIC SEIZURES(HP:0002123), HYPERTRICHOSIS(HP:0000998), DEVELOPMENTAL ARREST, 2ND YEAR OF LIFE(HP:0007198), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), SCOLIOSIS(HP:0002650), VACUOLATED LYMPHOCYTES(HP:0001922)]
2729	GCLC	[MYOPATHY(HP:0003198), LATE-ONSET SPINOCEREBELLAR DEGENERATION(HP:0006904), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEMOLYTIC ANEMIA(HP:0001878), POLYNEUROPATHY(HP:0001271)]
2731	GLDC	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IRRITABILITY(HP:0000737), HYPERACTIVITY(HP:0000752), LETHARGY(HP:0001254), MYOCLONUS(HP:0001336), MUSCULAR HYPOTONIA(HP:0001252), NONKETOTIC HYPERGLYCINEMIA(HP:0008288), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEATH IN INFANCY(HP:0001522), AGGRESSIVE BEHAVIOR(HP:0000718), RESTLESSNESS(HP:0000711), HYPOREFLEXIA(HP:0001265), AGENESIS OF CORPUS CALLOSUM(HP:0001274), HYPERGLYCINURIA(HP:0003108)]
2733	GLE1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEONATAL DEATH(HP:0003811), PAUCITY OF ANTERIOR HORN MOTOR NEURONS(HP:0007277), AMYOTROPHY(HP:0003202), ABNORMALITY OF THE THORAX(HP:0000765), MUSCLE HYPOPLASIA(HP:0009004), MICROGNATHIA(HP:0000210), WIDENING OF CERVICAL SPINAL CANAL(HP:0004571), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560), PULMONARY HYPOPLASIA(HP:0002089)]
2737	GLI3	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), VARIABLE EXPRESSIVITY(HP:0003828), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEONATAL DEATH(HP:0003811), INGUINAL HERNIA(HP:0000023), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), MICROPENIS(HP:0000054), THYROID DYSPLASIA/APLASIA(HP:0008188), LARYNGEAL CLEFT(HP:0008751), BIFID OR HYPOPLASTIC EPIGLOTTIS(HP:0008746), MIDLINE FACIAL CAPILLARY HEMANGIOMA(HP:0007601), ECTOPIC KIDNEY(HP:0000086), RENAL HYPOPLASIA(HP:0000089), NYSTAGMUS(HP:0000639), HYPOCORTISOLEMIA(HP:0008220), DISTAL URETHRAL DUPLICATION(HP:0008706), RENAL CYSTS(HP:0000107), UMBILICAL HERNIA(HP:0001537), DECREASED TESTICULAR SIZE(HP:0008734), HYPOPLASTIC TEETH(HP:0000685), 3-4 FINGER SYNDACTYLY(HP:0006097), ACCELERATED SKELETAL MATURATION(HP:0005616), HIGH-ARCHED PALATE(HP:0000156), NEONATAL TEETH(HP:0000695), MICROGLOSSIA(HP:0000171), DISTAL SHORTENING OF LIMBS(HP:0006402), NASAL HYPOPLASIA(HP:0003196), CLEFT PALATE(HP:0000175), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), ABNORMAL LUNG LOBATION(HP:0002101), MENTAL RETARDATION, MILD(HP:0001256), AGENESIS OF CORPUS CALLOSUM(HP:0001274), CLEFT LIP(HP:0000204), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), Y-SHAPED METACARPALS(HP:0006042), OPEN MOUTH(HP:0000194), THIN LIPS(HP:0000213), HYPERGLYCEMIA(HP:0003074), TAPERED FINGERS(HP:0001182), HYDROCEPHALUS(HP:0000238), NAIL DYSPLASIA(HP:0002164), PARTIAL/COMPLETE DUPLICATION OF PHALANGES OF THE THUMB(HP:0009942), HYPOPLASTIC/SHORT 4TH METACARPAL(HP:0010044), HYPOTHALAMIC HAMARTOMA(HP:0002444), CRANIOSYNOSTOSIS(HP:0001363), GROWTH HORMONE DEFICIENCY(HP:0000824), EPICANTHUS(HP:0000286), PRECOCIOUS PUBERTY(HP:0000826), MACROCEPHALY(HP:0000256), 1-5 TOE SYNDACTYLY(HP:0010713), WIDE ANTERIOR FONTANEL(HP:0000260), DELAYED CLOSURE OF FONTANELLES(HP:0000270), MICRORETROGNATHIA(HP:0000308), HYPERTELORISM(HP:0000316), FLAT PHILTRUM(HP:0000319), LONG PHILTRUM(HP:0000343), RADIAL HEAD SUBLUXATION(HP:0003048), BROAD FOREHEAD(HP:0000337), HIGH FOREHEAD(HP:0000348), GENERALIZED HYPOTONIA(HP:0001290), CAMPTODACTYLY (FEET)(HP:0001836), SHORT PHILTRUM(HP:0000322), PANHYPOPITUITARISM(HP:0000871), POSTAXIAL POLYDACTYLY (FEET)(HP:0001830), PARTIAL/COMPLETE DUPLICATION OF THE PHALANGES OF THE HALLUX(HP:0010066), ADRENAL HYPOPLASIA(HP:0000835), POSTERIORLY ROTATED EARS(HP:0000358), BROAD PHALANGES OF THE HALLUX(HP:0010059), DYSPLASTIC DISTAL THUMB PHALANGES WITH A CENTRAL HOLE(HP:0005688), PROXIMAL AORTIC COARCTATION(HP:0005151), HEARING LOSS(HP:0000365), BROAD HALLUX(HP:0010055), ABNORMALITY OF EAR LOBES(HP:0000363), EXTERNAL AUDITORY CANAL ATRESIA(HP:0000413), CAMPTODACTYLY (HANDS)(HP:0010563), MICROTIA(HP:0000393), CYSTIC MALFORMATIONS AFFECTING THE CENTRAL NERVOUS SYSTEM(HP:0010576), ANAL ATRESIA(HP:0002023), PREAURICULAR SKIN TAG(HP:0000384), BROAD PHALANGES OF THE THUMB(HP:0009651), DISLOCATED HIPS(HP:0002827), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), BROAD NASAL ROOT(HP:0000424), CENTRAL POLYDACTYLY (FEET)(HP:0010112), BROAD NASAL BRIDGE(HP:0000431), RIB FUSION(HP:0000902), CENTRAL POLYDACTYLY (HANDS)(HP:0006159), HETEROGENEOUS(HP:0001425), NARES, ANTEVERTED(HP:0000463), HIRSUTISM(HP:0001007), HEMIVERTEBRAE(HP:0002937), 1-3 TOE SYNDACTYLY(HP:0001459), ABNORMALITY OF MUSCLE FIBERS(HP:0004303), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486)]
2741	GLRA1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EXAGGERATED STARTLE RESPONSE(HP:0002267), HYPERTONICITY(HP:0002388), INGUINAL HERNIA(HP:0000023), MYOCLONUS(HP:0001336), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), UMBILICAL HERNIA(HP:0001537), DISLOCATED HIPS(HP:0002827), FREQUENT FALLS(HP:0002359), ONSET IN INFANCY(HP:0003576)]
2743	GLRB	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EXAGGERATED STARTLE RESPONSE(HP:0002267), HYPERTONICITY(HP:0002388), INGUINAL HERNIA(HP:0000023), MYOCLONUS(HP:0001336), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), UMBILICAL HERNIA(HP:0001537), DISLOCATED HIPS(HP:0002827), FREQUENT FALLS(HP:0002359), ONSET IN INFANCY(HP:0003576)]
2746	GLUD1	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPERINSULINEMIC HYPOGLYCEMIA(HP:0000825), MENTAL RETARDATION DUE TO REPEATED EPISODES OF HYPOGLYCEMIA(HP:0002386), HYPOGLYCEMIA(HP:0001943), HYPERAMMONEMIA, ASYMPTOMATIC(HP:0008162), AGE OF ONSET(HP:0003674), LOSS OF CONSCIOUSNESS(HP:0007185), SEIZURES, HYPOGLYCEMIC(HP:0002173), HYPOGLYCEMIC COMA(HP:0001325)]
2760	GM2A	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EXAGGERATED STARTLE RESPONSE(HP:0002267), BLINDNESS(HP:0000618), PARALYSIS(HP:0003470), APATHY(HP:0000741), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), GM2-GANGLIOSIDE ACCUMULATION(HP:0003495), POOR HEAD CONTROL(HP:0002421), ASPIRATION(HP:0002835), DEMENTIA(HP:0000726)]
2771	GNAI2	[PAROXYSMAL VENTRICULAR TACHYCARDIA(HP:0004751), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645)]
2778	GNAS	[ELEVATED SERUM PARATHYROID HORMONE (PTH) LEVEL(HP:0003165), HYPOTHYROIDISM(HP:0000821), DELAYED DENTITION(HP:0000684), DEAFNESS(HP:0000404), HYPOGONADISM(HP:0000135), PRECOCIOUS PUBERTY(HP:0000826), LARGE CAFE AU LAIT SPOTS WITHIN IRREGULAR MARGINS(HP:0005605), VARIABLE SEVERITY(HP:0003814), OSTEOPOROSIS(HP:0000939), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), COGNITIVE DEFICITS(HP:0002337), CATARACT(HP:0000518), PROGRESSIVE DISORDER(HP:0003676), SEIZURES(HP:0001250), ROUND FACE(HP:0000311), CHOROID PLEXUS CALCIFICATION(HP:0006960), LOW NASAL BRIDGE(HP:0000428), FULL CHEEKS(HP:0000293), CRANIOFACIAL HYPEROSTOSIS(HP:0004493), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), ONSET IN INFANCY OR CHILDHOOD(HP:0003583), OBESITY(HP:0001513), HYPOKINESIA(HP:0002375), BASAL GANGLIA CALCIFICATION(HP:0002135), LOW URINARY CYCLIC AMP RESPONSE TO PTH ADMINISTRATION(HP:0003456), SHORT NECK(HP:0000470), BLINDNESS(HP:0000618), DECREASED BODY HEIGHT(HP:0004322), THICKENED CALVARIA(HP:0002684), FACIAL ASYMMETRY(HP:0000324), HYPOCALCEMIC TETANY(HP:0003472), HYPERPROLACTINEMIA(HP:0000870), BRACHYDACTYLY (FEET)(HP:0001831), NYSTAGMUS(HP:0000639), HYPOPLASIA OF THE TOES(HP:0004701), ISOLATED CASES(HP:0001420), CUSHING SYNDROME(HP:0000850), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), PSEUDOHYPOPARATHYROIDISM(HP:0000852), ABNORMALITY OF MUSCULATURE(HP:0003011), PITUITARY ADENOMA(HP:0002893), SOMATIC MOSAICISM(HP:0001442), HYPOCALCEMIA(HP:0002901), HYPERTHYROIDISM(HP:0000836), HYPERPARATHYROIDISM(HP:0000843), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), HYPERPHOSPHATEMIA(HP:0002905), PATHOLOGIC FRACTURE(HP:0002756), USUALLY AUTOSOMAL DOMINANT(HP:0001455), ACROMEGALY(HP:0000845)]
2796	GNRH1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPITUITARISM(HP:0000830), PITUITARY GONADOTROPIN DEFICIENCY(HP:0008213), HYPOGONADISM, MALE(HP:0000026), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), METABOLISM ABNORMALITY(HP:0001939), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), ABSENCE OF SECONDARY SEX CHARACTERISTICS(HP:0008187)]
2798	GNRHR	[ANDROGEN INSUFFICIENCY(HP:0008226), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
2799	GNS	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILDLY COARSE FACIES(HP:0000281), DYSOSTOSIS MULTIPLEX(HP:0000943), SEVERE BEHAVIORAL PROBLEMS AT AGE 3-4(HP:0002456), SEIZURES(HP:0001250), MILD HEPATOMEGALY(HP:0001398), DIARRHEA(HP:0002014), FREQUENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0001740), MILD SPLENOMEGALY(HP:0001745), SYNOPHRYS(HP:0000664), GROWTH ABNORMALITY(HP:0001507), SLEEP DISTURBANCES(HP:0002360), OVOID THORACOLUMBAR VERTEBRAE(HP:0003309), THICKENED RIBS(HP:0000900), COARSE HAIR(HP:0002208), METACHROMASIA OF WHITE BLOOD CELLS AND FIBROBLASTS(HP:0003653), HIRSUTISM(HP:0001007), HYPERACTIVITY(HP:0000752), ASYMMETRIC SEPTAL HYPERTROPHY(HP:0001670), SLOWING MENTAL DEVELOPMENT BY 1.5 TO 3 YEARS OF AGE(HP:0002402), MILD JOINT STIFFNESS(HP:0003033), HEARING LOSS(HP:0000365), HEPARAN SULFATE EXCRETION IN URINE(HP:0002159)]
2811	GP1BA	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILD THROMBOCYTOPENIA(HP:0001906), MENORRHAGIA(HP:0000132), PROLONGED BLEEDING AFTER DENTAL EXTRACTION(HP:0006298), HEMOLYTIC ANEMIA(HP:0001878), ABNORMALITY OF THE TEETH(HP:0000164), MILD SPLENOMEGALY(HP:0001745), EPISTAXIS(HP:0000421), ECCHYMOSES(HP:0000978), STOMATOCYTOSIS(HP:0004446), CONGENITAL BLEEDING DIATHESIS(HP:0004834), PURPURA(HP:0000979), PROLONGED BLEEDING TIME(HP:0003010), GINGIVAL BLEEDING(HP:0000225), PETECHIAE(HP:0000967), INTERMITTENT THROMBOCYTOPENIA(HP:0004854)]
2812	GP1BB	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILD THROMBOCYTOPENIA(HP:0001906), ABNORMALITY OF THE ABDOMEN(HP:0001438), MENORRHAGIA(HP:0000132), CONGENITAL BLEEDING DIATHESIS(HP:0004834), PURPURA(HP:0000979), PROLONGED BLEEDING TIME(HP:0003010), EPISTAXIS(HP:0000421)]
2815	GP9	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILD THROMBOCYTOPENIA(HP:0001906), ABNORMALITY OF THE ABDOMEN(HP:0001438), MENORRHAGIA(HP:0000132), CONGENITAL BLEEDING DIATHESIS(HP:0004834), PURPURA(HP:0000979), PROLONGED BLEEDING TIME(HP:0003010), EPISTAXIS(HP:0000421)]
2821	GPI	[JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MENTAL RETARDATION(HP:0001249), SPONTANEOUS HEMOLYTIC CRISES(HP:0005525), SPLENOMEGALY(HP:0001744), CHOLECYSTITIS(HP:0001082), STILLBIRTH(HP:0001624), MUSCLE WEAKNESS(HP:0001324), GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY(HP:0003568), NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930)]
2876	GPX1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEONATAL HYPERBILIRUBINEMIA(HP:0003265), COMPENSATED HEMOLYTIC ANEMIA(HP:0004863)]
2896	GRN	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), APRAXIA(HP:0002186), PROGRESSIVE LANGUAGE DETERIORATION(HP:0007064), MEMORY LOSS(HP:0002081), DYSPHASIA(HP:0002357), PERSONALITY CHANGES(HP:0000751), HALLUCINATIONS(HP:0000738), APATHY(HP:0000741), PARKINSONISM(HP:0001300), GRADUAL ONSET OF COGNITIVE IMPAIRMENT(HP:0007211), MEAN AGE OF ONSET 18 YEARS(HP:0003628), CEREBRAL CORTICAL ATROPHY(HP:0002120), REPETITIVE COMPULSIVE BEHAVIOR(HP:0008762), AGITATION(HP:0000713), MUTISM(HP:0002300), INAPPROPRIATE BEHAVIOR(HP:0000719), RESTLESSNESS(HP:0000711), HYPERORALITY(HP:0000710), DISINHIBITION(HP:0000734), FRONTOTEMPORAL DEMENTIA(HP:0002145), HYPERPHAGIA(HP:0000724), ENLARGED LATERAL VENTRICLES(HP:0007173), MOTOR APHASIA(HP:0002427)]
2908	NR3C1	[HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOKALEMIC ALKALOSIS(HP:0001949)]
2916	GRM6	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), NIGHT BLINDNESS(HP:0000662)]
2925	GRPR	[X-LINKED INHERITANCE(HP:0001417)]
2934	GSN	[GENERALIZED AMYLOID DEPOSITION(HP:0003216), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PERIPHERAL POLYNEUROPATHY, ESP VIBRATION AND TOUCH LOSS(HP:0007287), ABNORMALITY OF THE ABDOMEN(HP:0001438), RENAL FAILURE(HP:0000083), BULBAR PALSY(HP:0001283), NEPHROTIC SYNDROME(HP:0000100), LATTICE CORNEAL DYSTROPHY(HP:0001149), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), CUTIS LAXA(HP:0000973), ONSET IN THIRD DECADE(HP:0003585)]
2936	GSR	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEMOLYTIC ANEMIA(HP:0001878)]
2937	GSS	[INCREASED HEMOLYSIS(HP:0005503), GLUTATHIONE SYNTHETASE DEFICIENCY(HP:0003343), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILD HEMOLYTIC ANEMIA(HP:0001910), SPASTIC TETRAPARESIS(HP:0001285), PERIPHERAL RETINAL PIGMENTATION ABNORMALITIES(HP:0007741), ATAXIA(HP:0001251), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), GLYOXALASE DEFICIENCY(HP:0003258), DYSARTHRIA(HP:0001260), MILD ANEMIA(HP:0001926), INTENTION TREMOR(HP:0002080), CHRONIC METABOLIC ACIDOSIS(HP:0001996)]
2956	MSH6	[CAFE-AU-LAIT SPOTS(HP:0000957), HYPERPIGMENTED MACULES(HP:0001034), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE ABDOMEN(HP:0001438), LEUKEMIA(HP:0001909), NEUROBLASTOMA(HP:0003006), LYMPHOMA(HP:0002665), AXILLARY FRECKLING(HP:0000997), BASAL CELL CARCINOMA(HP:0002671), MEDULLOBLASTOMA(HP:0002885), ASTROCYTOMA(HP:0009592), EPENDYMOMA(HP:0002888)]
2978	GUCA1A	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PHOTOPHOBIA(HP:0000613)]
2989	GULOP	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
2990	GUSB	[JOINT CONTRACTURES(HP:0001372), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ACETABULAR DYSPLASIA(HP:0008807), COARSE FACIAL FEATURES(HP:0000280), MACROCEPHALY(HP:0000256), DERMATAN AND HEPARAN SULFATE EXCRETION IN URINE(HP:0003541), INGUINAL HERNIA(HP:0000023), NEURODEGENERATION(HP:0002180), ABNORMALITY OF THE HEART VALVES(HP:0001654), PECTUS CARINATUM(HP:0000768), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), METATARSUS VARUS(HP:0001840), HEPATOMEGALY(HP:0002240), UMBILICAL HERNIA(HP:0001537), HEARING LOSS(HP:0000365), THORACOLUMBAR KYPHOSIS(HP:0005619), DYSOSTOSIS MULTIPLEX(HP:0000943), HYDROPS FETALIS(HP:0001789), PLATYSPONDYLY(HP:0000926), MENTAL RETARDATION(HP:0001249), SPLENOMEGALY(HP:0001744), PROXIMAL TAPERING OF METACARPALS(HP:0006119), ANTERIOR BEAKING OF LOWER THORACIC AND LUMBAR VERTEBRAE(HP:0004607), SHORT NECK(HP:0000470), J-SHAPED SELLA TURCICA(HP:0002680), DECREASED BODY HEIGHT(HP:0004322), HIRSUTISM(HP:0001007), VARIABLE DEGREE OF CORNEAL OPACITIES(HP:0007957), HYDROCEPHALUS(HP:0000238), NARROW GREATER SACROSCIATIC NOTCHES(HP:0003375)]
2998	GYS2	[SEIZURES(HP:0001250), FASTING HYPOGLYCEMIA(HP:0003162), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCREASED SERUM LACTATE(HP:0002151), HYPERGLYCEMIA(HP:0003074), NEONATAL HYPOGLYCEMIA(HP:0001998)]
3000	GUCY2D	[CONE-ROD DYSTROPHY(HP:0000548), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PHOTOPHOBIA(HP:0000613), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FUNDUS ATROPHY(HP:0001099), BLINDNESS(HP:0000618), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPERTHREONINEMIA(HP:0003354), KERATOCONUS(HP:0000563), VISUAL LOSS(HP:0000572), NYSTAGMUS(HP:0000639), EYE POKING(HP:0001483), HEPATOMEGALY(HP:0002240), CATARACT(HP:0000518), DECREASED ELECTRORETINOGRAM (ERG)(HP:0000654), PIGMENTARY RETINOPATHY(HP:0000580), MENTAL RETARDATION(HP:0001249), CENTRAL VISUAL LOSS EARLY(HP:0007969), GROWTH RETARDATION(HP:0001510), PERIPHERAL VISUAL FIELD LOSS(HP:0007994), HYPERTHREONINURIA(HP:0003296)]
3028	HSD17B10	[RETINAL DEGENERATION(HP:0000546), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOTONIA, AXIAL, IN INFANCY(HP:0009062), HYPERREFLEXIA(HP:0001347), SEIZURES(HP:0001250), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), DYSARTHRIA(HP:0001260), LOSS OF DEVELOPMENTAL MILESTONES(HP:0002471), SPASTICITY(HP:0001257), MOTOR RETARDATION(HP:0001270), CHOREOATHETOSIS(HP:0001266), ONSET IN INFANCY(HP:0003576), HYPOKINESIA(HP:0002375), HALLUCINATIONS(HP:0000738), BROAD-BASED GAIT(HP:0002136), ARACHNODACTYLY(HP:0001166), SPEECH DELAY(HP:0002117), X-LINKED RECESSIVE INHERITANCE(HP:0001419), LUMBAR HYPERLORDOSIS(HP:0002938), NYSTAGMUS(HP:0000639), X-LINKED DOMINANT INHERITANCE(HP:0001423), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), METABOLIC ACIDOSIS(HP:0001942), AGITATION(HP:0000713), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), AGGRESSIVE BEHAVIOR(HP:0000718), PSYCHOSIS(HP:0000709), RESTLESSNESS(HP:0000711)]
3029	HAGH	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), GLYOXALASE DEFICIENCY(HP:0003258), NEUROLOGICAL ABNORMALITY(HP:0000707), ELLIPTOCYTOSIS(HP:0004445)]
3030	HADHA	[DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), ELEVATED LIVER ENZYMES(HP:0003293), HYDROPS FETALIS(HP:0001789), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), SLOW PROGRESSION(HP:0003677), RAPIDLY PROGRESSIVE(HP:0003678), MYALGIA(HP:0003326), GENERALIZED MUSCLE WEAKNESS(HP:0003324), FAILURE TO THRIVE(HP:0001508), HYPOKETOTIC HYPOGLYCEMIA(HP:0001985), LACTICACIDURIA(HP:0003648), LOW BIRTH WEIGHT(HP:0001518), RESPIRATORY INSUFFICIENCY(HP:0002093), HYPOKINESIA(HP:0002375), MYOGLOBINURIA(HP:0002913), SUDDEN DEATH(HP:0001699), EARLY DEATH(HP:0001432), PRENATAL MATERNAL ABNORMALITY(HP:0002686), RHABDOMYOLYSIS(HP:0003201), SKELETAL MYOPATHY(HP:0003756), PIGMENTARY RETINOPATHY(HP:0000580), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560)]
3032	HADHB	[DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELEVATED LIVER ENZYMES(HP:0003293), CONGESTIVE HEART FAILURE(HP:0001635), FEEDING DIFFICULTIES(HP:0002022), LIVER DYSFUNCTION(HP:0004393), HYDROPS FETALIS(HP:0001789), 3-HYDROXYDICARBOXYLIC ACIDURIA(HP:0008160), PSYCHOMOTOR RETARDATION(HP:0001255), MYOPATHY(HP:0003198), MUSCULAR HYPOTONIA(HP:0001252), SLOW PROGRESSION(HP:0003677), REDUCED CONSCIOUSNESS/CONFUSION(HP:0004372), RECURRENT INFANTILE HYPOGLYCEMIA(HP:0004914), RAPIDLY PROGRESSIVE(HP:0003678), MYALGIA(HP:0003326), GENERALIZED MUSCLE WEAKNESS(HP:0003324), FAILURE TO THRIVE(HP:0001508), HYPOKETOTIC HYPOGLYCEMIA(HP:0001985), LOW BIRTH WEIGHT(HP:0001518), RECURRENT MYOGLOBINURIA(HP:0003652), RESPIRATORY INSUFFICIENCY(HP:0002093), MYOGLOBINURIA(HP:0002913), HYPOKINESIA(HP:0002375), EARLY DEATH(HP:0001432), PRENATAL MATERNAL ABNORMALITY(HP:0002686), RHABDOMYOLYSIS(HP:0003201), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560)]
3033	HADH	[DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOGLYCEMIA, HYPOKETOTIC(HP:0005969), HYPERINSULINEMIC HYPOGLYCEMIA(HP:0000825), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), ENCEPHALOPATHY, HYPOGLYCEMIC(HP:0006929), FEEDING DIFFICULTIES(HP:0002022), HEPATIC NECROSIS(HP:0002605), MUSCULAR HYPOTONIA(HP:0001252), HEPATIC STEATOSIS(HP:0001397), GROWTH RETARDATION(HP:0001510), HYPOKINESIA(HP:0002375), MYOGLOBINURIA(HP:0002913), HETEROGENEOUS(HP:0001425), FULMINANT HEPATIC FAILURE(HP:0004448), MENTAL RETARDATION DUE TO REPEATED EPISODES OF HYPOGLYCEMIA(HP:0002386), DICARBOXYLIC ACIDURIA(HP:0003215), SEIZURES, HYPOGLYCEMIC(HP:0002173), HYPOGLYCEMIC COMA(HP:0001325)]
3039	HBA1	[JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ERYTHROCYTOSIS(HP:0001901), HYDROPS FETALIS(HP:0001789), METABOLISM ABNORMALITY(HP:0001939), ALPHA-THALASSEMIA WITH MICROCYTOSIS(HP:0005507), CONGENITAL HEINZ BODY ANEMIA(HP:0005511), CYANOSIS(HP:0000961), NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930)]
3040	HBA2	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MILD HEMOLYTIC ANEMIA(HP:0001910), MILD ANEMIA(HP:0001926), ERYTHROCYTOSIS(HP:0001901), NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930)]
3043	HBB	[JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MILD HEMOLYTIC ANEMIA(HP:0001910), INCREASED RED CELL SICKLING TENDENCY(HP:0008346), ERYTHROCYTOSIS(HP:0001901), CONGENITAL DYSERYTHROPOIETIC ANEMIA(HP:0005545), HEMATURIA(HP:0000790), MACROCYTIC HEMOLYTIC DISEASE(HP:0005524), SPLENOMEGALY(HP:0001744), MILD ANEMIA(HP:0001926), CHOLELITHIASIS(HP:0001081), CONGENITAL HEINZ BODY ANEMIA(HP:0005511), URINE CONCENTRATION DEFECT(HP:0005568), MICROCYTIC ANEMIA(HP:0001935), CYANOSIS(HP:0000961), OSTEOMYELITIS(HP:0002754), NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930)]
3045	HBD	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
3046	HBE1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
3047	HBG1	[DECREASED IGG LEVEL(HP:0004315), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ANEMIA(HP:0001903)]
3048	HBG2	[METABOLISM ABNORMALITY(HP:0001939), HEMATOLOGICAL ABNORMALITY(HP:0001871), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE SKIN(HP:0000951)]
3049	HBQ1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
3050	HBZ	[STILLBIRTH(HP:0001624), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
3052	HCCS	[HYPOPLASTIC UTERUS(HP:0000013), MENTAL RETARDATION, MILD TO SEVERE(HP:0002458), ASYMMETRIC, LINEAR SKIN DEFECTS(HP:0007398), MICROPHTHALMOS(HP:0000568), CATARACT(HP:0000518), CHORDEE(HP:0000041), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), MICROPENIS(HP:0000054), ATRIAL SEPTAL DEFECT(HP:0001631), DIAPHRAGMATIC HERNIA(HP:0000776), IRIS COLOBOMA(HP:0000612), ONCOCYTIC CARDIOMYOPATHY(HP:0005152), PIGMENTARY RETINOPATHY(HP:0000580), ANTERIORLY PLACED ANUS(HP:0001545), ABSENT SEPTUM PELLUCIDUM(HP:0001331), HEARING LOSS(HP:0000365), HYPERTROPHIC CLITORIS(HP:0008665), OVERRIDING AORTA(HP:0002623), ANAL ATRESIA(HP:0002023), SCLEROCORNEA(HP:0000647), AGENESIS OF CORPUS CALLOSUM(HP:0001274), DECREASED BODY HEIGHT(HP:0004322), X-LINKED DOMINANT INHERITANCE(HP:0001423), HYDROCEPHALUS(HP:0000238), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), METABOLISM ABNORMALITY(HP:0001939), MICROCEPHALY(HP:0000252)]
3053	SERPIND1	[DISSEMINATED INTRAVASCULAR COAGULATION(HP:0005521), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), POST-ANGIOPLASTY CORONARY ARTERY RESTENOSIS(HP:0004761), RECURRENT DEEP VEIN THROMBOSIS(HP:0004850)]
3060	HCRT	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WEAKNESS(HP:0002309), INCREASED BODY WEIGHT(HP:0004324), CATAPLEXY, PAROXYSMAL WEAKNESS OR PARALYSIS(HP:0002525), EXCESSIVE DAYTIME SLEEPINESS(HP:0002189), ATTACKS OF DISABLING DAYTIME DROWSINESS AND LOW ALERTNESS(HP:0002330), HYPNAGOGIC HALLUCINATIONS(HP:0002519), METABOLISM ABNORMALITY(HP:0001939), GENERALIZED MUSCLE WEAKNESS(HP:0003324), HYPNOPOMPIC HALLUCINATIONS(HP:0006896), ABNORMAL RAPID EYE MOVEMENT (REM) SLEEP(HP:0002494), CATAPLEXY OFTEN TRIGGERED BY STRONG EMOTIONS(HP:0002428), LATE ONSET(HP:0003584)]
3064	HTT	[BRADYKINESIA(HP:0002067), PERSONALITY CHANGES(HP:0000751), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CHOREA(HP:0002072), HYPERREFLEXIA(HP:0001347), RIGIDITY(HP:0002063), NEURONAL LOSS(HP:0002400), DEPRESSION(HP:0000716), ABNORMALITY OF EYE MOVEMENT(HP:0000496), GLIOSIS(HP:0002171), EARLY ONSET(HP:0003593), DEMENTIA(HP:0000726)]
3073	HEXA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EXAGGERATED STARTLE RESPONSE(HP:0002267), BLINDNESS(HP:0000618), APATHY(HP:0000741), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), GM2-GANGLIOSIDE ACCUMULATION(HP:0003495), POOR HEAD CONTROL(HP:0002421), ASPIRATION(HP:0002835), PSYCHOMOTOR DEGENERATION(HP:0002361), MACULAR PALLOR WITH PROMINENCE OF FOVEA CENTRALIS(HP:0007988), ONSET IN INFANCY(HP:0003576), DEMENTIA(HP:0000726)]
3074	HEXB	[CARDIOMEGALY(HP:0001640), ABNORMALITY OF THE SKIN(HP:0000951), COARSE FACIAL FEATURES(HP:0000280), MACROCEPHALY(HP:0000256), PYRAMIDAL TRACT DYSFUNCTION(HP:0007275), URINARY INCONTINENCE(HP:0000020), IMPOTENCE(HP:0000802), MACROGLOSSIA(HP:0000158), HYPERREFLEXIA(HP:0001347), CHRONIC DIARRHEA(HP:0002028), CEREBELLAR ATAXIA(HP:0001253), DYSARTHRIA(HP:0001260), ORTHOSTATIC HYPOTENSION(HP:0001278), EPISODIC ABDOMINAL PAIN(HP:0002574), ABNORMALITY OF THE EYES(HP:0000478), FASCICULATIONS(HP:0002380), HEPATOSPLENOMEGALY(HP:0001433), PROGRESSIVE MENTAL AND MOTOR DETERIORATION(HP:0006856), AMYOTROPHY(HP:0003202), METABOLISM ABNORMALITY(HP:0001939), IMPAIRED THERMAL SENSITIVITY(HP:0006901)]
3075	CFH	[COGNITIVE DEFECTS(HP:0002441), HYPERTENSION(HP:0000822), MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS TYPE II(HP:0004746), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ACUTE RENAL FAILURE(HP:0001919), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE PHENOTYPE(HP:0003813), DECREASED HEMOGLOBIN(HP:0003136), INCREASED BLOOD UREA NITROGEN (BUN)(HP:0003138), HEMATURIA(HP:0000790), SEIZURES(HP:0001250), PARTIAL COMPLEMENT FACTOR H DEFICIENCY(HP:0008290), THROMBOCYTOPENIA(HP:0001873), DIARRHEA(HP:0002014), COMA(HP:0001259), IGA NEPHROPATHY(HP:0000794), HEMOLYTIC-UREMIC SYNDROME(HP:0005575), HEMIPARESIS(HP:0001269), PROGRESSIVE VISUAL LOSS(HP:0000529), DYSPHASIA(HP:0002357), ONSET IN INFANCY OR CHILDHOOD(HP:0003583), SCHISTOCYTES(HP:0001981), DECREASED SERUM COMPLEMENT FACTOR B(HP:0005416), DECREASED SERUM COMPLEMENT C3(HP:0005421), SPORADIC(HP:0003745), PROTEINURIA(HP:0000093), HYPERLIPIDEMIA(HP:0003077), DEPRESSION(HP:0000716), MICROANGIOPATHIC HEMOLYTIC ANEMIA(HP:0001937), INCREASED CREATININE(HP:0003259), PROGRESSIVE RENAL INSUFFICIENCY(HP:0000106), FEVER(HP:0001945), THICKENING OF THE GLOMERULAR BASEMENT MEMBRANE ON RENAL BIOPSY(HP:0004722), INCREASED SUSCEPTIBILITY TO CERTAIN BACTERIAL INFECTIONS(HP:0005391), RETICULOCYTOSIS(HP:0001923), DEPLETION OF COMPONENTS OF THE ALTERNATIVE COMPLEMENT PATHWAY(HP:0005389), VASCULITIS(HP:0002633), RECURRENT MENINGOCOCCAL DISEASE(HP:0005381)]
3077	HFE	[CARDIOMEGALY(HP:0001640), PLEURAL EFFUSION(HP:0002202), AMENORRHEA(HP:0000141), HYPERPIGMENTATION(HP:0000953), INCREASED SERUM FERRITIN(HP:0003281), DIABETES MELLITUS(HP:0000819), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), CARDIOMYOPATHY(HP:0001638), OSTEOPOROSIS(HP:0000939), IMPOTENCE(HP:0000802), AZOOSPERMIA(HP:0000027), TESTICULAR ATROPHY(HP:0000029), HEPATOCELLULAR CARCINOMA(HP:0001402), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), CIRRHOSIS(HP:0001394), SPLENOMEGALY(HP:0001744), INCREASED SERUM IRON(HP:0003452), TELANGIECTASIA(HP:0001009), ARTHROPATHY(HP:0003040), ALOPECIA(HP:0001596), HEPATOMEGALY(HP:0002240), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), ASCITES(HP:0001541), ELEVATED TRANSAMINASES(HP:0002910)]
3081	HGD	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BACK PAIN(HP:0003418), VERTEBRAL FUSION(HP:0002948), MITRAL VALVE CALCIFICATION(HP:0004382), AORTIC VALVE CALCIFICATION(HP:0004380), DEGENERATION OF INTERVERTEBRAL DISKS(HP:0008419), GROWTH ABNORMALITY(HP:0001507), KYPHOSIS(HP:0002808), ABNORMALITY OF THE URINARY TRACT(HP:0000079), PIGMENTATION OF THE SCLERA(HP:0007832), ABNORMALITY OF SKIN PIGMENTATION(HP:0001000), THICKENED ACHILLES TENDON(HP:0004690), CORONARY ARTERY CALCIFICATION(HP:0001717), AORTIC DILATATION(HP:0001724), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF THE EARS(HP:0000598)]
3082	HGF	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), DEAFNESS, SENSORINEURAL, PRELINGUAL, PROFOUND(HP:0000399), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
3098	HK1	[JAUNDICE(HP:0000952), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SPLENOMEGALY(HP:0001744), CHOLECYSTITIS(HP:0001082), NORMOCYTIC ANEMIA(HP:0001897), CHOLELITHIASIS(HP:0001081), NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930), NORMOCHROMIC ANEMIA(HP:0001895)]
3105	HLA-A	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715)]
3110	MNX1	[ANTERIOR SACRAL MENINGOCELE(HP:0007293), REDUCED PENETRANCE(HP:0003830), RECTOVAGINAL FISTULA(HP:0000143), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MENINGOCELE(HP:0002435), RECURRENT URINARY TRACT INFECTIONS(HP:0000010), NEUROGENIC BLADDER(HP:0000011), PERIANAL ABSCESS(HP:0009789), BIFID SACRUM(HP:0009791), ABDOMINAL DISTENTION(HP:0003270), HEMISACRUM (S2-S5)(HP:0009790), URINARY INCONTINENCE(HP:0000020), ANAL ATRESIA(HP:0002023), ANAL STENOSIS(HP:0002025), BICORNUATE UTERUS(HP:0000813), DEVELOPMENTAL RETARDATION(HP:0001263), GASTROINTESTINAL OBSTRUCTION(HP:0004796), SEPTATE VAGINA(HP:0001153), VESICOURETERAL REFLUX(HP:0000076), HORSESHOE KIDNEY(HP:0000085), CHRONIC CONSTIPATION(HP:0002241), MENINGITIS(HP:0001287), PRESACRAL TERATOMA(HP:0009793), TETHERED CORD(HP:0002144)]
3122	HLA-DRA	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715)]
3141	HLCS	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), THROMBOCYTOPENIA(HP:0001873), COMA(HP:0001259), VOMITING(HP:0002013), MILD-MODERATE HYPERAMMONEMIA(HP:0008308), HYPERTONIA(HP:0001276), ORGANIC ACIDURIA(HP:0001992), IRRITABILITY(HP:0000737), ALOPECIA(HP:0001596), TACHYPNEA(HP:0002789), METABOLIC ACIDOSIS(HP:0001942), HYPERVENTILATION(HP:0002883), SKIN RASH(HP:0000988)]
3145	HMBS	[NEUROPATHY(HP:0003407), HYPERTENSION(HP:0000822), RESPIRATORY PARALYSIS(HP:0002203), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WEAKNESS(HP:0002309), PARESTHESIA(HP:0003401), URINARY RETENTION(HP:0000016), CONSTIPATION(HP:0002019), NAUSEA(HP:0002018), INCREASED INCIDENCE OF HEPATOCELLULAR CARCINOMA(HP:0003007), URINARY INCONTINENCE(HP:0000020), TACHYCARDIA(HP:0001649), ABDOMINAL PAIN(HP:0002027), SEIZURES(HP:0001250), PARALYTIC ILEUS(HP:0002590), DIARRHEA(HP:0002014), ABNORMALITY OF ERYTHROCYTES(HP:0001877), VOMITING(HP:0002013), ANXIETY(HP:0000739), PARALYSIS(HP:0003470), ACUTE EPISODES OF NEUROPATHIC SYMPTOMS(HP:0003489), DEPRESSION(HP:0000716), URINARY LABORATORY ABNORMALITY(HP:0003110), PSYCHOTIC EPISODES(HP:0000725)]
3155	HMGCL	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EARLY DEATH(HP:0001432), 3-METHYLGLUTARIC ACIDURIA(HP:0003344), HEPATOMEGALY(HP:0002240), METABOLIC ACIDOSIS(HP:0001942), HYPOGLYCEMIA(HP:0001943), SOMNOLENCE(HP:0001262), COMA(HP:0001259), FEVER(HP:0001945), HYPERAMMONEMIA(HP:0001987), ORGANIC ACIDURIA(HP:0001992)]
3172	HNF4A	[NONINSULIN-DEPENDENT DIABETES MELLITUS(HP:0005978), EARLY ONSET, MILD AND RELATIVELY UNCOMPLICATED COURSE(HP:0003672), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INSULIN-DEPENDENT MATURITY-ONSET DIABETES OF THE YOUNG(HP:0004904)]
3195	TLX1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), T-CELL ACUTE LYMPHOBLASTIC LEUKEMIAS(HP:0006727)]
3199	HOXA2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), MICROTIA(HP:0000393), CLEFT PALATE(HP:0000175)]
3207	HOXA11	[APLASTIC ANEMIA(HP:0001915), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RADIAL BOWING(HP:0002986), HEARING LOSS, SENSORINEURAL(HP:0000407), THROMBOCYTOPENIA, CONGENITAL(HP:0004869), DISLOCATED HIPS(HP:0002827), PANCYTOPENIA(HP:0001876), SHALLOW ACETABULAR FOSSAE(HP:0003182), PROXIMAL RADIO-ULNAR SYNOSTOSIS(HP:0005037), LIMITED PRONATION/SUPINATION OF FOREARM(HP:0006394), SYNDACTYLY(HP:0001159), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), MEGAKARYOCYTOPENIA(HP:0005548), PURPURA(HP:0000979), PETECHIAE(HP:0000967), ULNAR BOWING(HP:0003031)]
3209	HOXA13	[DELAYED MATURATION/DELAYED OSSIFICATION OF CARPAL BONES(HP:0001216), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROXIMALLY PLACED THUMB(HP:0009623), HYPOPLASTIC/SHORT 1ST METACARPAL(HP:0010034), GLANDULAR HYPOSPADIAS(HP:0000807), THENAR HYPOPLASIA(HP:0001245), HYPOPLASTIC/SMALL 5TH FINGER(HP:0009237), BRACHYDACTYLY (2ND-5TH TOES)(HP:0001885), CHORDEE(HP:0000041), BIFID SCROTUM(HP:0000048), MICROPENIS(HP:0000054), HYPOPLASTIC DISTAL AND MIDDLE PHALANGES(HP:0006118), LONGITUDINAL VAGINAL SEPTUM(HP:0008740), HYPOPLASTIC/SMALL HALLUX(HP:0010109), VESICOURETERAL REFLUX(HP:0000076), SHORT FIRST METATARSAL(HP:0004680), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), URETEROPELVIC JUNCTION OBSTRUCTION(HP:0000074), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), RENAL FAILURE(HP:0000083), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), HALLUX VARUS(HP:0008080), DELAYED TARSAL OSSIFICATION(HP:0008103), ULNAR DEVIATION OF INDEX FINGERS(HP:0005811)]
3236	HOXD10	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EQUINUS DEFORMITY OF THE CALCANEUS(HP:0008138), CONGENITAL VERTICAL TALUS(HP:0010218), VALGUS POSITION OF THE CALCANEUS(HP:0008120)]
3239	HOXD13	[ESOPHAGEAL ATRESIA(HP:0002032), PATENT DUCTUS ARTERIOSUS(HP:0001643), SHORT, BROAD DISTAL PHALANGES(HP:0006199), HYPOPLASIA OF THE RADIUS(HP:0002984), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), 6 METACARPALS(HP:0001501), TETRALOGY OF FALLOT(HP:0001636), ANAL ATRESIA(HP:0002023), TYPE A BRACHYDACTYLY(HP:0009370), ENLARGED PROXIMAL INTERPHALANGEAL JOINTS(HP:0006185), HYPOPLASTIC/SMALL THUMB(HP:0009778), ROUND FACE(HP:0000311), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), LARYNGEAL STENOSIS(HP:0001602), HYPOSPADIAS(HP:0000047), RADIOULNAR SYNOSTOSIS(HP:0002974), FAILURE TO THRIVE(HP:0001508), ABNORMALITY OF THE RIBS(HP:0000772), VENTRICULAR SEPTAL DEFECT(HP:0001629), OCCIPITAL ENCEPHALOCELE(HP:0002085), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), TRACHEOESOPHAGEAL FISTULA(HP:0002575), PRENATAL GROWTH DEFICIENCY(HP:0001515), CENTRAL POLYDACTYLY (HANDS)(HP:0006159), APLASIA OF THE DISTAL INTERPHALANGEAL CREASES(HP:0001032), BROAD DISTAL PHALANGES OF THE HAND(HP:0009836), VESICOURETERAL REFLUX(HP:0000076), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), PREAXIAL POLYDACTYLY (FEET)(HP:0001841), Y-SHAPED METACARPALS(HP:0006042), MULTIPLE IMPACTED TEETH(HP:0001571), URETEROPELVIC JUNCTION OBSTRUCTION(HP:0000074), STRAIGHT AND SHORT CLAVICLES(HP:0005902), ECTOPIC KIDNEY(HP:0000086), ABNORMALITY OF THE STERNUM(HP:0000766), 4-5 TOE SYNDACTYLY(HP:0004692), 2ND-5TH TOE MIDDLE PHALANGEAL HYPOPLASIA(HP:0008083), CHOANAL ATRESIA(HP:0000453), POSTAXIAL POLYDACTYLY (FEET)(HP:0001830), HYPOPLASTIC/SMALL MIDDLE PHALANX OF THE 5TH FINGER(HP:0004220), 2-3 OR 4-5 TOE SYNDACTYLY(HP:0004703), ISOLATED CASES(HP:0001420), LARGE FONTANELLES(HP:0000239), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), SINGLE UMBILICAL ARTERY(HP:0001195), RENAL DYSPLASIA(HP:0000110), SPINA BIFIDA(HP:0002414), SCOLIOSIS(HP:0002650), TRIPHALANGEAL THUMB(HP:0001199), TETHERED CORD(HP:0002144), CUTANEOUS SYNDACTYLY OF THE FINGERS(HP:0010554), HYDRONEPHROSIS(HP:0000126), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), 5TH FINGER CLINO-CAMPTODACTYLY(HP:0006062), MODERATELY SHORT STATURE(HP:0008848)]
3242	HPD	[4-HYDROXYPHENYLPYRUVIC ACIDURIA(HP:0003161), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TYROSINEMIA(HP:0003231), METABOLIC ACIDOSIS(HP:0001942), SEIZURES(HP:0001250), 4-HYDROXYPHENYLACETIC ACIDURIA(HP:0003607), ABNORMALITY OF THE LIVER(HP:0001392), MENTAL RETARDATION, MILD(HP:0001256), FAILURE TO THRIVE(HP:0001508)]
3248	HPGD	[CLUBBING(HP:0001217), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LARGE FONTANELLES(HP:0000239), ECZEMATOID DERMATITIS(HP:0000976)]
3251	HPRT1	[EXTRAPYRAMIDAL SIGNS(HP:0002071), HYPERURICOSURIA(HP:0003149), MEGALOBLASTIC ANEMIA(HP:0001889), OPISTHOTONUS(HP:0002179), TESTICULAR ATROPHY(HP:0000029), MUSCULAR HYPOTONIA(HP:0001252), KIDNEY STONES(HP:0000787), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), VOMITING(HP:0002013), MOTOR RETARDATION(HP:0001270), CHOREOATHETOSIS(HP:0001266), GOUT(HP:0001997), GOUT (FEET)(HP:0001854), INTEGUMENT ABNORMALITY(HP:0001574), DECREASED BODY HEIGHT(HP:0004322), RENAL FAILURE(HP:0000083), X-LINKED RECESSIVE INHERITANCE(HP:0001419), SPASTICITY, HYPERREFLEXIA(HP:0007318), DYSTONIA(HP:0001332), HYPERURICEMIA(HP:0002149)]
3257	HPS1	[INFLAMMATORY BOWEL DISEASE(HP:0002037), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTERSTITIAL FIBROSIS(HP:0000129), CARDIOMYOPATHY(HP:0001638), ABDOMINAL PAIN(HP:0002027), BLEEDING DIATHESIS(HP:0001892), OCULAR ALBINISM(HP:0001107), FRECKLING(HP:0001480), RESTRICTIVE LUNG DISEASE(HP:0002091), EPISTAXIS(HP:0000421), LIFELONG REDUCED VISUAL ACUITY, LEGAL BLINDNESS TO LOW VISION(HP:0007640), HETEROGENEOUS(HP:0001425), ALBINISM(HP:0001022), BLOODY DIARRHEA(HP:0002255), FRECKLES IN SUN-EXPOSED AREAS(HP:0007603), HAIR ABNORMALITY(HP:0001595), RENAL FAILURE(HP:0000083), PIGMENTED NEVI(HP:0000995), NYSTAGMUS(HP:0000639), ECCHYMOSES(HP:0000978), PROLONGED BLEEDING TIME(HP:0003010), GINGIVAL BLEEDING(HP:0000225)]
3265	HRAS	[ACANTHOSIS NIGRICANS(HP:0000956), PULMONIC STENOSIS(HP:0001642), TALIPES EQUINOVARUS(HP:0001762), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MITRAL VALVE PROLAPSE(HP:0001634), MALIGNANT MELANOMA(HP:0002861), BLADDER CARCINOMA(HP:0002862), COARSE FACIAL FEATURES(HP:0000280), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), EPICANTHUS(HP:0000286), RHABDOMYOSARCOMA(HP:0002859), MACROCEPHALY(HP:0000256), OBSTRUCTIVE SLEEP APNEA(HP:0002870), HIGH-ARCHED PALATE(HP:0000156), MACROGLOSSIA(HP:0000158), COLON CANCER(HP:0003003), LIMITED ELBOW MOVEMENT(HP:0002996), CEREBRAL ATROPHY(HP:0002059), DEEP PALMAR CREASES(HP:0006191), PSYCHOMOTOR RETARDATION(HP:0001255), FULL LIPS(HP:0000170), HOARSE VOICE(HP:0001609), HYPERTELORISM(HP:0000316), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), PECTUS CARINATUM(HP:0000768), DEEP PLANTAR CREASES(HP:0001869), TIGHT ACHILLES TENDON(HP:0006430), CURLY HAIR(HP:0002212), SPARSE HAIR(HP:0008070), LOOSE, REDUNDANT SKIN(HP:0001582), SUDDEN DEATH(HP:0001699), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), WEBBED NECK(HP:0000465), NARES, ANTEVERTED(HP:0000463), KOILONYCHIA(HP:0001598), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), HYPEREXTENSIBILITY OF THE FINGER JOINTS(HP:0001187), LOW-SET EARS(HP:0000369), THIN, DEEP-SET NAILS(HP:0001814), FRAGILE NAILS(HP:0001808), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), POLYHYDRAMNIOS(HP:0001561), RENAL PELVIC CARCINOMA(HP:0006762), STRABISMUS(HP:0000486), PAPILLARY RENAL CELL CARCINOMA(HP:0006766), BARREL-SHAPED CHEST(HP:0001552)]
3273	HRG	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RECURRENT THROMBOEMBOLIC DISEASE(HP:0004831)]
3291	HSD11B2	[HYPERTENSION(HP:0000822), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTENSIVE RETINOPATHY(HP:0001095), LOW PLASMA RENIN ACTIVITY(HP:0003263), GROWTH RETARDATION(HP:0001510), HYPOALDOSTERONISM(HP:0000355), HYPOKALEMIA(HP:0002900)]
3293	HSD17B3	[HYPOTHYROIDISM(HP:0000821), INFERTILITY(HP:0000789), METABOLISM ABNORMALITY(HP:0001939), MALE PSEUDOHERMAPHRODITISM(HP:0000037), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GYNECOMASTIA(HP:0000771)]
3295	HSD17B4	[ABOLISHED ELECTRORETINOGRAM (ERG)(HP:0000550), DELAYED SKELETAL MATURATION(HP:0002750), RETROGNATHIA(HP:0000278), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), SCAPHOCEPHALY(HP:0000258), MACROCEPHALY(HP:0000256), VISUAL LOSS(HP:0000572), DELAYED CLOSURE OF FONTANELLES(HP:0000270), GENERALIZED CEREBRAL HYPOPLASIA/ATROPHY(HP:0007058), HEPATIC STEATOSIS(HP:0001397), CHOLESTASIS(HP:0001396), HYPERTELORISM(HP:0000316), ONSET IN INFANCY(HP:0003576), LONG PHILTRUM(HP:0000343), CEREBRAL HYPOPLASIA(HP:0006872), HIGH FOREHEAD(HP:0000348), CEREBELLAR HYPOPLASIA/ATROPHY(HP:0006857), WHITE MATTER DYSMYELINATION/DEMYELINATION(HP:0007134), ADRENOCORTICAL INSUFFICIENCY(HP:0008219), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), LOW-SET EARS(HP:0000369), UPSLANTING PALPEBRAL FISSURES(HP:0000582), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), NEOCORTICAL DYSPLASIA(HP:0007139), RENAL CYSTS(HP:0000107), POLYHYDRAMNIOS(HP:0001561), NEONATAL HYPOTONIA(HP:0001319), TALIPES EQUINOVARUS(HP:0001762), HAMMER TOES(HP:0001765), HIGH-ARCHED PALATE(HP:0000156), OSTEOPENIA(HP:0000938), FEEDING DIFFICULTIES(HP:0002022), FETAL ASCITES(HP:0001791), PSYCHOMOTOR RETARDATION(HP:0001255), DECREASED MUSCLE MASS(HP:0003199), SEIZURES(HP:0001250), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), CALCIFIC STIPPLING(HP:0002832), FACIAL DYSMORPHISM(HP:0001999), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), ECTRODACTYLY (HANDS)(HP:0001171), BILE DUCT PROLIFERATION(HP:0001408), VENTRICULOMEGALY(HP:0002119), PECTUS EXCAVATUM(HP:0000767), POLYMICROGYRIA(HP:0002126), MICROGNATHIA(HP:0000210), LARGE FONTANELLES(HP:0000239), GLIOSIS(HP:0002171), HYPOPLASTIC/ATROPHIC CORPUS CALLOSUM(HP:0007026), STRABISMUS(HP:0000486)]
3299	HSF4	[ANTERIOR POLAR CATARACT(HP:0001134), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LAMELLAR CATARACT(HP:0007971)]
3315	HSPB1	[PES CAVUS(HP:0001761), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), FASCICULATIONS(HP:0002380), MUSCLE CRAMPS(HP:0003394), PARALYSIS(HP:0003470), MUSCLE WEAKNESS, DISTAL (LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS), DUE TO MOTOR NEURONOPATHY(HP:0002598), AREFLEXIA IN LOWER LIMBS(HP:0002522), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL AMYOTROPHY(HP:0003693), LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS(HP:0003483), DISTAL SENSORY IMPAIRMENT(HP:0002936), CLAW HAND DEFORMITIES (IN SEVERE CASES)(HP:0001178), EMG SHOWS NEUROGENIC ABNORMALITIES(HP:0002178), VARIABLE AGE AT ONSET(HP:0003618), HYPOREFLEXIA OF LOWER LIMBS(HP:0002600), PARESIS OF EXTENSOR MUSCLES OF THE BIG TOE IS PRESENTING SYMPTOM(HP:0002601), NORMAL OR MILDLY DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003437), MUSCLE WEAKNESS, LOWER LIMB, DISTAL(HP:0009053), FOOT DROP(HP:0003377), ONSET IN ADULTHOOD(HP:0003581), 'STEPPAGE' GAIT(HP:0003376), SURAL NERVE BIOPSY SHOWS CHRONIC AXONAL NEUROPATHY(HP:0003446)]
3329	HSPD1	[SPASTIC GAIT(HP:0002064), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), URINARY URGENCY(HP:0000012), MICROCEPHALY, ACQUIRED(HP:0000259), MENTAL RETARDATION, PROFOUND(HP:0002187), SPHINCTER DISTURBANCE(HP:0000018), URINARY INCONTINENCE(HP:0000020), SPASTICITY, PROGRESSIVE(HP:0002191), FEEDING DIFFICULTIES(HP:0002022), LOWER LIMB SPASTICITY(HP:0002061), HYPERREFLEXIA(HP:0001347), MUSCULAR HYPOTONIA(HP:0001252), PROGRESSIVE DISORDER(HP:0003676), SEIZURES(HP:0001250), APNEA(HP:0002104), SPASTIC PARAPLEGIA(HP:0001258), SPHINCTER DISTURBANCES (BLADDER)(HP:0002839), CHOREOATHETOSIS(HP:0001266), ONSET AT BIRTH(HP:0003577), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), DECREASED VIBRATORY SENSE IN THE LOWER LIMBS(HP:0002166), LEUKODYSTROPHY(HP:0002415), FEVER(HP:0001945), STRABISMUS(HP:0000486)]
3339	HSPG2	[DELAYED SKELETAL MATURATION(HP:0002750), CONGENITAL HIP DISLOCATION(HP:0001374), KYPHOSCOLIOSIS(HP:0002751), MALAR HYPOPLASIA(HP:0000272), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FLATTENED FEMORAL EPIPHYSES(HP:0008811), NEONATAL DEATH(HP:0003811), INGUINAL HERNIA(HP:0000023), HIP CONTRACTURES(HP:0003273), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), GENERALIZED HIRSUTISM(HP:0002230), FULL CHEEKS(HP:0000293), PECTUS CARINATUM(HP:0000768), TOE CONTRACTURES(HP:0001860), MYOTONIA(HP:0002486), COXA VARA(HP:0002812), MANDIBULAR HYPOPLASIA(HP:0000347), SHORT, BENT LONG BONES(HP:0006382), AMYOTROPHY(HP:0003202), SMALL CHEST(HP:0001590), METAPHYSEAL WIDENING(HP:0003016), LOW-SET EARS(HP:0000369), BLEPHAROPHIMOSIS(HP:0000581), UMBILICAL HERNIA(HP:0001537), SHORT LIMB DWARFISM(HP:0003505), POSTERIORLY ROTATED EARS(HP:0000358), MUSCLE WEAKNESS(HP:0001324), MUSCLE HYPERTROPHY(HP:0003712), DECREASED TESTICULAR SIZE(HP:0008734), PES PLANUS(HP:0001763), TALIPES EQUINOVARUS(HP:0001762), CAMPTODACTYLY (HANDS)(HP:0010563), WRIST CONTRACTURES(HP:0001239), OSTEOPOROSIS(HP:0000939), CORONAL CLEFT VERTEBRAE(HP:0003417), OVERFOLDED HELICES(HP:0000396), ANISOSPONDYLY(HP:0002879), PLATYSPONDYLY(HP:0000926), MENTAL RETARDATION(HP:0001249), MICROSTOMIA(HP:0000160), BROAD NASAL BRIDGE(HP:0000431), HYPOREFLEXIA(HP:0001265), PULMONARY HYPOPLASIA(HP:0002089), PURSED LIPS(HP:0000205), COXA VALGA(HP:0002673), SHORT NECK(HP:0000470), LUMBAR HYPERLORDOSIS(HP:0002938), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), LONG EYELASHES IN IRREGULAR ROWS(HP:0007740), ANTERIOR BOWING OF LONG BONES(HP:0006473), SMALL, HIGH-PITCHED VOICE(HP:0008379), MICROCORNEA(HP:0000482)]
3373	HYAL1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE JOINTS(HP:0001367), ABNORMALITY OF THE SKIN(HP:0000951), BIFID UVULA(HP:0000193), DECREASED BODY HEIGHT(HP:0004322), METABOLISM ABNORMALITY(HP:0001939), FLATTENED NASAL BRIDGE(HP:0000425), SUBMUCOUS CLEFT PALATE(HP:0000176)]
3423	IDS	[CONTRACTURES(HP:0001371), CONGESTIVE HEART FAILURE(HP:0001635), COARSE FACIAL FEATURES(HP:0000280), SCAPHOCEPHALY(HP:0000258), MACROCEPHALY(HP:0000256), DERMATAN AND HEPARAN SULFATE EXCRETION IN URINE(HP:0003541), INTESTINAL PSEUDO-OBSTRUCTION(HP:0004389), INGUINAL HERNIA(HP:0000023), ABNORMALITY OF THE HEART VALVES(HP:0001654), NEURODEGENERATION(HP:0002180), HOARSE VOICE(HP:0001609), KYPHOSIS(HP:0002808), TRACHEOBRONCHOMALACIA(HP:0002786), HEPATOMEGALY(HP:0002240), UMBILICAL HERNIA(HP:0001537), PAPILLEDEMA(HP:0001085), HEARING LOSS(HP:0000365), WIDELY SPACED TEETH(HP:0000687), PES CAVUS(HP:0001761), DELAYED DENTITION(HP:0000684), RECURRENT OTITIS MEDIA(HP:0000403), DYSOSTOSIS MULTIPLEX(HP:0000943), OBSTRUCTIVE SLEEP APNEA(HP:0002870), MACROGLOSSIA(HP:0000158), ASTHMA(HP:0002099), FULL LIPS(HP:0000170), FISHNET RETINAL PIGMENTATION(HP:0007801), SEIZURES(HP:0001250), CERVICAL CORD COMPRESSION(HP:0002341), DIARRHEA(HP:0002014), SPLENOMEGALY(HP:0001744), SHORT NECK(HP:0000470), ECTRODACTYLY (HANDS)(HP:0001171), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPERTRICHOSIS(HP:0000998), PTOSIS(HP:0000508), HYDROCEPHALUS(HP:0000238), MILD SPONDYLORHIZOMELIC DWARFISM(HP:0008852)]
3426	CFI	[RECURRENT SKIN INFECTIONS(HP:0001581), ARTHRITIS(HP:0001369), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RECURRENT OTITIS MEDIA(HP:0000403), RECURRENT URINARY TRACT INFECTIONS(HP:0000010), DECREASED SERUM COMPLEMENT FACTOR I(HP:0005356), DECREASED SERUM COMPLEMENT FACTOR B(HP:0005416), INCREASED SUSCEPTIBILITY TO STREPTOCOCCUS PNEUMONIAE INFECTIONS(HP:0005366), DECREASED SERUM COMPLEMENT C3(HP:0005421), RENAL FAILURE(HP:0000083), DECREASED SERUM COMPLEMENT FACTOR H(HP:0005369), METABOLISM ABNORMALITY(HP:0001939), GLOMERULONEPHRITIS(HP:0000099), RECURRENT MENINGITIS(HP:0006946), VASCULITIS(HP:0002633), INCREASED SUSCEPTIBILITY TO HAEMOPHILUS INFLUENZAE INFECTIONS(HP:0005376), RECURRENT MENINGOCOCCAL DISEASE(HP:0005381), ONSET IN CHILDHOOD(HP:0003578)]
3431	SP110	[LYMPH NODES LACK GERMINAL CENTERS(HP:0002849), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ENDOCARDIAL FIBROSIS(HP:0006685), IMMUNODEFICIENCY(HP:0002721), ABNORMALITY OF THE LIVER(HP:0001392), MICROCEPHALY(HP:0000252), DECREASED IGG LEVEL(HP:0004315)]
3459	IFNGR1	[SALMONELLA OSTEOMYELITIS(HP:0005661), HEMATOLOGICAL ABNORMALITY(HP:0001871), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE ABDOMEN(HP:0001438)]
3476	IGBP1	[RETROGNATHIA(HP:0000278), HEARING LOSS, SENSORINEURAL(HP:0000407), MACROCEPHALY(HP:0000256), HIGH-ARCHED PALATE(HP:0000156), MENTAL RETARDATION(HP:0001249), AGENESIS OF CORPUS CALLOSUM(HP:0001274), BROAD NECK(HP:0000475), IRIS COLOBOMA(HP:0000612), SHORT NECK(HP:0000470), HIGH FOREHEAD(HP:0000348), DECREASED BODY HEIGHT(HP:0004322), PECTUS EXCAVATUM(HP:0000767), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPODYSPLASIA OF THE CORPUS CALLOSUM(HP:0006849), LOW-SET EARS(HP:0000369), IMPAIRED VISION(HP:0000505), SCOLIOSIS(HP:0002650), CUP-SHAPED EARS(HP:0000378), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
3479	IGF1	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), OSTEOPENIA(HP:0000938), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), ONSET IN UTERO(HP:0003660), CLINODACTYLY OF HANDS(HP:0001157), SHORT ATTENTION SPAN(HP:0000736), DECREASED BODY HEIGHT(HP:0004322), HYPERACTIVITY(HP:0000752), MICROGNATHIA(HP:0000210), LOW WEIGHT(HP:0001823), PTOSIS(HP:0000508), METABOLISM ABNORMALITY(HP:0001939), MICROCEPHALY(HP:0000252)]
3480	IGF1R	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACIAL DYSMORPHISM MAY OCCUR(HP:0004655), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), ONSET IN UTERO(HP:0003660), BROAD NASAL BRIDGE(HP:0000431), LONG, SMOOTH PHILTRUM(HP:0000299), CLINODACTYLY OF HANDS(HP:0001157), ANXIETY(HP:0000739), DECREASED BODY HEIGHT(HP:0004322), SPEECH DELAY(HP:0002117), PECTUS EXCAVATUM(HP:0000767), THIN UPPER LIP(HP:0000219), AGITATION(HP:0000713), LOW WEIGHT(HP:0001823), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), MICROCEPHALY(HP:0000252)]
3500	IGHG1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
3508	IGHMBP2	[TALIPES EQUINOVARUS(HP:0001762), INSPIRATORY STRIDOR(HP:0005348), CAMPTODACTYLY (HANDS)(HP:0010563), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LIMB MUSCLE WEAKNESS(HP:0003690), CONSTIPATION(HP:0002019), URINARY INCONTINENCE(HP:0000020), DISTAL MUSCLE WEAKNESS AND ATROPHY(HP:0006940), SPINAL MUSCULAR ATROPHY(HP:0007269), EMG SHOWS NEUROGENIC ABNORMALITIES(HP:0002178), WEAK CRY(HP:0001612), FAILURE TO THRIVE(HP:0001508), INTRAUTERINE GROWTH RETARDATION(HP:0001511), HYPOREFLEXIA(HP:0001265), LOW BIRTH WEIGHT(HP:0001518), PREMATURE BIRTH(HP:0001622), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), DEGENERATION OF ANTERIOR HORN CELLS(HP:0002398), TACHYPNEA(HP:0002789), DIAPHORESIS(HP:0001064), DIAPHRAGMATIC WEAKNESS(HP:0009113), EVENTRATION OF THE RIGHT OR BOTH HEMIDIAPHRAGMS(HP:0009114), VENTILAR DEPENDENCE WITH INABILITY TO WEAN(HP:0005946), DENERVATION OF THE DIAPHRAGM(HP:0009109), DIAPHRAGMATIC PARALYSIS(HP:0006597), NERVE BIOPSY SHOWS AXONAL DEGENERATION(HP:0007304), DECREASED FETAL MOVEMENT(HP:0001558)]
3514	IGKC	[METABOLISM ABNORMALITY(HP:0001939), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DIARRHEA(HP:0002014)]
3549	IHH	[HYPOPLASIA OF THE RADIUS(HP:0002984), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONE-SHAPED EPIPHYSIS OF THE 1ST METACARPAL(HP:0010017), HYPOPLASTIC TIBIA(HP:0005736), FLATTENED METATARSAL AND METACARPAL HEADS(HP:0005194), NARROW CHEST(HP:0000774), SHORT RIBS(HP:0000773), OVOID VERTEBRAL BODIES(HP:0003300), GENU VARUM(HP:0002970), RADIAL DEVIATION OF THE 4TH FINGER(HP:0009279), CONE-SHAPED CAPITAL FEMORAL EPIPHYSES(HP:0008789), PECTUS CARINATUM(HP:0000768), APLASIA OF THE DISTAL INTERPHALANGEAL CREASES(HP:0001032), HYPOPLASTIC/SMALL PROXIMAL PHALANX OF THE HALLUX(HP:0010107), COXA VARA(HP:0002812), CUPPED RIBS(HP:0000887), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), BROAD NAILS(HP:0001821), HYPOPLASIA OF THE ULNA(HP:0003022), SHORT STATURE, DISPROPORTIONATE(HP:0003498), SHORT FEMORAL NECK(HP:0003032), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), DELAYED MATURATION/DELAYED OSSIFICATION OF CARPAL BONES(HP:0001216), LARGE DISTAL FEMORAL EPIPHYSES(HP:0006438), DYSPLASTIC FEMORAL HEAD(HP:0010575), SMALL EPIPHYSES OF THE METACARPALS(HP:0009194), SMALL, FLARED ILIAC WINGS(HP:0003181), HYPOPLASTIC/SMALL PROXIMAL PHALANX OF THE THUMB(HP:0009638), RELATIVE MACROCEPHALY(HP:0004482), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), SHORT FEMUR(HP:0003097), FIBULAR OVERGROWTH(HP:0003099), HETEROGENEOUS(HP:0001425), HYPOPLASIA OF THE PROXIMAL PHALANGES OF THE HAND(HP:0010241), PECTUS EXCAVATUM(HP:0000767), LUMBAR HYPERLORDOSIS(HP:0002938), HUMERAL HYPOPLASIA(HP:0005792), SCOLIOSIS(HP:0002650), IVORY AND CONE-SHAPED EPIPHYSES(HP:0006078), RADIAL DEVIATION OF THE 3RD FINGER(HP:0009462), DISTAL SYMPHALANGISM(HP:0001204), RADIAL DEVIATION OF THE 2ND FINGER(HP:0009467), CONE-SHAPED METACARPAL EPIPHYSES(HP:0006059)]
3561	IL2RG	[INTEGUMENT ABNORMALITY(HP:0001574), ABNORMALITY OF THE NECK(HP:0000464), ABNORMALITY OF THE MOUTH(HP:0000153), RECURRENT BACTERIAL MENINGITIS(HP:0007274), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HEPATOMEGALY(HP:0002240), CHRONIC DIARRHEA(HP:0002028), DECREASED NUMBER OF CD8+ T CELLS(HP:0005415), OTITIS MEDIA(HP:0000388), DECREASED NUMBER OF CD4+ T CELLS(HP:0005407), AGAMMAGLOBULINEMIA(HP:0004432), COMBINED IMMUNODEFICIENCY(HP:0005387), FAILURE TO THRIVE(HP:0001508), BRONCHITIS(HP:0002837), SINUSITIS(HP:0000246), PNEUMONIA(HP:0002090), SEVERE COMBINED IMMUNODEFICIENCY(HP:0004430), FREQUENT BACTERIAL, FUNGAL AND VIRAL INFECTIONS(HP:0005380), ABNORMALITY OF THE THYMUS(HP:0000777)]
3563	IL3RA	[HEMATOLOGICAL ABNORMALITY(HP:0001871)]
3593	IL12B	[SALMONELLA OSTEOMYELITIS(HP:0005661), HEMATOLOGICAL ABNORMALITY(HP:0001871), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE ABDOMEN(HP:0001438)]
3614	IMPDH1	[ABSENT CONE AND ROD FUNCTIONS BY ELECTRORETINOGRAM(HP:0008280), RETINITIS PIGMENTOSA(HP:0000510), FISHNET RETINAL PIGMENTATION(HP:0007801), CONSTRICTED VISUAL FIELDS(HP:0001133), EARLY ONSET(HP:0003593), NIGHT BLINDNESS(HP:0000662), RETINAL 'BONE CORPUSCLE' PIGMENTATION(HP:0007644), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
3621	ING1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SQUAMOUS CELL CARCINOMA(HP:0002860)]
3630	INS	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DIABETES MELLITUS(HP:0000819), PROMINENT METOPIC SUTURE(HP:0005487), SEIZURES(HP:0001250), DOWNTURNED CORNERS OF MOUTH(HP:0002714), IMMUNOLOGICAL ABNORMALITY(HP:0002715), SMALL, SHORT NOSE(HP:0003192), DEVELOPMENTAL RETARDATION(HP:0001263), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), KETOACIDOSIS(HP:0001993), LOW BIRTH WEIGHT(HP:0001518), BETA-CELL DYSFUNCTION(HP:0006279), LONG PHILTRUM(HP:0000343), CLINODACTYLY OF HANDS(HP:0001157), NARES, ANTEVERTED(HP:0000463), HYPSARRHYTHMIA(HP:0002521), HYPERGLYCEMIA(HP:0003074), PTOSIS(HP:0000508), LIMB CONTRACTURES(HP:0003121), MUSCLE WEAKNESS(HP:0001324), ABNORMALITY OF THE EARS(HP:0000598)]
3640	INSL3	[RENAL AGENESIS(HP:0000104), CRYPTORCHIDISM(HP:0000028)]
3643	INSR	[DELAYED SKELETAL MATURATION(HP:0002750), SMALL FACE(HP:0000274), PROMINENT NIPPLES(HP:0004405), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INSULIN-RESISTANT DIABETES MELLITUS(HP:0000831), COARSE FACIAL FEATURES(HP:0000280), HYPERINSULINEMIC HYPOGLYCEMIA(HP:0000825), PRECOCIOUS PUBERTY(HP:0000826), ABDOMINAL DISTENTION(HP:0003270), HYPERINSULINEMIA, FASTING(HP:0008283), RECURRENT INFECTIONS(HP:0002719), CHOLESTASIS(HP:0001396), PREMATURE ERUPTION OF TEETH(HP:0006288), ENLARGED PENIS(HP:0000040), BITEMPORAL NARROWING(HP:0000314), HEPATIC FIBROSIS(HP:0001395), CLITOROMEGALY(HP:0000057), PROMINENT EYES(HP:0000536), MANDIBULAR PROGNATHIA(HP:0000303), AMYOTROPHY(HP:0003202), LARGE FEET(HP:0001833), HYPERPROLACTINEMIA(HP:0000870), LOW-SET EARS(HP:0000369), MENSTRUAL IRREGULARITIES(HP:0000858), HYPOGLYCEMIC COMA(HP:0001325), ELFIN FACIES(HP:0004428), DIABETIC KETOACIDOSIS(HP:0008253), ACANTHOSIS NIGRICANS(HP:0000956), DRY SKIN(HP:0000958), FASTING HYPOGLYCEMIA(HP:0003162), LARGE EARS(HP:0000400), SUPERNUMERARY TEETH(HP:0000672), HIGH-ARCHED PALATE(HP:0000156), POLYCYSTIC OVARIES(HP:0000147), SEVERE FAILURE TO THRIVE(HP:0001525), FULL LIPS(HP:0000170), ISLETS OF LANGERHANS HYPERPLASIA(HP:0004510), EXOPHTHALMOS(HP:0000645), DEVELOPMENTAL RETARDATION(HP:0001263), LOW BIRTH WEIGHT(HP:0001518), PRENATAL GROWTH DEFICIENCY(HP:0001515), MACROSTOMIA(HP:0000181), HETEROGENEOUS(HP:0001425), BRACHYDACTYLY(HP:0001156), DECREASED BODY HEIGHT(HP:0004322), LARGE HANDS(HP:0001176), GINGIVAL HYPERPLASIA(HP:0000212), NEOPLASIA(HP:0002664), LIPODYSTROPHY(HP:0009125), ADIPOSE TISSUE LOSS(HP:0008887), HYPOGLYCEMIA(HP:0001943), NAIL DYSPLASIA(HP:0002164), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), LOSS OF CONSCIOUSNESS(HP:0007185), SEIZURES, HYPOGLYCEMIC(HP:0002173), GENERALIZED HYPERTRICHOSIS(HP:0004554), ACRAL HYPERTROPHY(HP:0008856), HYPERKERATOSIS(HP:0000962)]
3651	PDX1	[DIABETES MELLITUS(HP:0000819), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EXOCRINE PANCREATIC INSUFFICIENCY(HP:0001738), INTRAUTERINE GROWTH RETARDATION(HP:0001511), PANCREATIC HYPOPLASIA(HP:0002594), EARLY ONSET(HP:0003593)]
3655	ITGA6	[ESOPHAGEAL ATRESIA(HP:0002032), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTRACTABLE DIARRHEA(HP:0002041), CONGENITAL PYLORIC ATRESIA(HP:0004399), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), DEATH IN INFANCY(HP:0001522), ARTHROGRYPOSIS(HP:0001390), ONSET IN UTERO(HP:0003660), ECTROPION(HP:0000656), SKIN CLEAVAGE IN THE LAMINA LUCIDA(HP:0003341), ELEVATED ALPHA-FETOPROTEIN(HP:0006254), NAIL DYSPLASIA(HP:0002164), MILIA(HP:0001056), APLASIA CUTIS CONGENITA(HP:0001057), AXILLARY PTERYGIA(HP:0001060), GENITOURINARY ABNORMALITY(HP:0000119), POLYHYDRAMNIOS(HP:0001561), ANONYCHIA(HP:0001798), ATROPHIC SCARS(HP:0001075)]
3659	IRF1	[CHRONIC ATROPHIC GASTRITIS(HP:0002582), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ALVEOLAR CELL CARCINOMA(HP:0006519), RESPIRATORY ABNORMALITY(HP:0002086)]
3664	IRF6	[TALIPES EQUINOVARUS(HP:0001762), CLEFT LIP(HP:0000204), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LOWER LIP PIT(HP:0000196), BIFID UVULA(HP:0000193), HYPOPLASTIC UTERUS(HP:0000013), CRYPTORCHIDISM(HP:0000028), ISOLATED CASES(HP:0001420), CLEFT PALATE(HP:0000175), SCROTAL HYPOPLASIA(HP:0000046), HYPODONTIA(HP:0000668), PYRAMIDAL SKINFOLD EXTENDING FROM THE BASE TO THE TOP OF THE NAILS(HP:0009758), HYPOPLASTIC VAGINA(HP:0008726), INTERCRURAL PTERYGIUM(HP:0009757), BIFID SCROTUM(HP:0000048), POPLITEAL PTERYGIUM(HP:0009756), ANKYLOBLEPHARON(HP:0009755), SPINA BIFIDA OCCULTA(HP:0003298), SYNGNATHIA(HP:0009754), HYPOPLASTIC LABIA MAJORA(HP:0000059), CUTANEOUS SYNDACTYLY OF THE FINGERS(HP:0010554), DEMENTIA(HP:0000726)]
3673	ITGA2	[NEONATAL ALLOIMMUNE THROMBOCYTOPENIA(HP:0004809), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROLONGED BLEEDING TIME(HP:0003010)]
3674	ITGA2B	[GLANZMANN THROMBASTHENIA(HP:0001975), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MENORRHAGIA(HP:0000132), ABNORMAL PLATELET AGGREGATION(HP:0003540), GASTROINTESTINAL HEMORRHAGE(HP:0002239), ECCHYMOSES(HP:0000978), PURPURA(HP:0000979), PROLONGED BLEEDING TIME(HP:0003010), INTRACRANIAL HEMORRHAGE(HP:0002170), GINGIVAL BLEEDING(HP:0000225), EPISTAXIS(HP:0000421)]
3689	ITGB2	[LEUKOCYTOSIS(HP:0001974), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RECTAL ABSCESS(HP:0005224), RECURRENT STAPHYLOCOCCAL AND GRAM-NEGATIVE INFECTIONS(HP:0005420), METABOLISM ABNORMALITY(HP:0001939), GINGIVITIS(HP:0000230), PERIODONTITIS(HP:0000165)]
3690	ITGB3	[NEONATAL ALLOIMMUNE THROMBOCYTOPENIA(HP:0004809), GLANZMANN THROMBASTHENIA(HP:0001975), POST-TRANSFUSION THROMBOCYTOPENIA(HP:0004813), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MENORRHAGIA(HP:0000132), ABNORMAL PLATELET AGGREGATION(HP:0003540), BLEEDING DIATHESIS(HP:0001892), GASTROINTESTINAL HEMORRHAGE(HP:0002239), PURPURA(HP:0000979), INTRACRANIAL HEMORRHAGE(HP:0002170), GINGIVAL BLEEDING(HP:0000225), EPISTAXIS(HP:0000421)]
3691	ITGB4	[ESOPHAGEAL ATRESIA(HP:0002032), HETEROGENEOUS(HP:0001425), JOINT CONTRACTURES(HP:0001372), ABNORMALITY OF THE FEET(HP:0001760), SKIN CLEAVAGE IN THE LAMINA LUCIDA(HP:0003341), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTRACTABLE DIARRHEA(HP:0002041), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), ELEVATED ALPHA-FETOPROTEIN(HP:0006254), PALMAR HYPERHIDROSIS(HP:0006089), CONGENITAL PYLORIC ATRESIA(HP:0004399), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), NAIL DYSPLASIA(HP:0002164), PLANTAR HYPERKERATOSIS(HP:0007556), DEATH IN INFANCY(HP:0001522), MILIA(HP:0001056), APLASIA CUTIS CONGENITA(HP:0001057), AXILLARY PTERYGIA(HP:0001060), FRAGILE NAILS(HP:0001808), GENITOURINARY ABNORMALITY(HP:0000119), HYPODONTIA(HP:0000668), ARTHROGRYPOSIS(HP:0001390), CARIOUS TEETH(HP:0000670), POLYHYDRAMNIOS(HP:0001561), ONSET IN UTERO(HP:0003660), AUTOSOMAL DOMINANT MUTATION OF KERATIN 5 (KRT5(HP:0001447), ANONYCHIA(HP:0001798), ATROPHIC SCARS(HP:0001075), EPIDERMOLYSIS BULLOSA INVOLVING HANDS AND FEET ONLY(HP:0007446), ECTROPION(HP:0000656), ONSET IN CHILDHOOD(HP:0003578), MILD FINGER CONTRACTURES(HP:0006218)]
3708	ITPR1	[GAIT ATAXIA(HP:0002066), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), VERY SLOW PROGRESSION(HP:0003681), HYPERREFLEXIA(HP:0001347), CEREBELLAR ATAXIA(HP:0001253), POSTURAL TREMOR(HP:0002174), ACTION TREMOR(HP:0002345), DYSARTHRIA(HP:0001260), CEREBELLAR ATROPHY(HP:0001272), ONSET IN CHILDHOOD(HP:0003578)]
3712	IVD	[MITOCHONDRIAL INHERITANCE(HP:0001427), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), METABOLIC ACIDOSIS(HP:0001942), LETHARGY(HP:0001254), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), BONE MARROW HYPOPLASIA(HP:0005528), COMA(HP:0001259), DEHYDRATION(HP:0001944), PANCYTOPENIA(HP:0001876), VOMITING(HP:0002013), KETOACIDOSIS(HP:0001993)]
3717	JAK2	[LEUKOCYTOSIS(HP:0001974), HYPERTENSION(HP:0000822), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), THROMBOSIS(HP:0001977), INCREASED RED BLOOD CELL MASS(HP:0001898), ABNORMAL PLATELET AGGREGATION(HP:0003540), INCREASED HEMATOCRIT(HP:0001899), INCREASED HEMOGLOBIN(HP:0001900), MYELOPROLIFERATIVE DISORDER(HP:0005547), THROMBOCYTOSIS(HP:0001894), ISOLATED CASES(HP:0001420), FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), GASTROINTESTINAL HEMORRHAGE(HP:0002239), CEREBRAL HEMORRHAGE(HP:0001342), ONSET BEFORE AGE 2 YEARS(HP:0003667), THROMBOCYTOPENIA(HP:0001873), ACROCYANOSIS(HP:0001063), MILD SPLENOMEGALY(HP:0001745), INCREASED MEGAKARYOCYTE PRECURSOR CELLS(HP:0005513), CEREBRAL ISCHEMIA(HP:0002637), BUDD-CHIARI SYNDROME(HP:0002639)]
3728	JUP	[CARDIOMEGALY(HP:0001640), HETEROGENEOUS(HP:0001425), SUDDEN DEATH(HP:0001699), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), WOOLLY HAIR(HP:0002224), PALMOPLANTAR KERATODERMA(HP:0000982), SYNCOPE(HP:0001279), EPISODES OF VENTRICULAR TACHYCARDIA(HP:0005141), CURLY HAIR(HP:0002212)]
3730	KAL1	[HYPOTHALAMIC GONADOTROPIN-RELEASING HORMONE (GNRH) DEFICIENCY(HP:0003164), PES CAVUS(HP:0001761), IMPAIRED FSH AND LH SECRETION(HP:0003295), HIGH-ARCHED PALATE(HP:0000156), TESTICULAR ATROPHY(HP:0000029), CRYPTORCHIDISM(HP:0000028), ATAXIA(HP:0001251), SPARSE PUBIC HAIR(HP:0002225), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), GYNECOMASTIA(HP:0000771), MICROPENIS(HP:0000054), EUNUCHOID HABITUS(HP:0003782), LEYDIG CELL INSENSITIVITY TO GONADOTROPIN(HP:0002929), ANOSMIA(HP:0000458), X-LINKED INHERITANCE(HP:0001417), OLFACTORY LOBE AGENESIS(HP:0001341), MIRROR HAND MOVEMENTS (BIMANUAL SYNKINESIA)(HP:0001335), UNILATERAL RENAL AGENESIS(HP:0000122)]
3732	CD82	[ABNORMALITY OF THE NAILS(HP:0001597), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
3736	KCNA1	[SPASTIC GAIT(HP:0002064), ABNORMALITY OF THE HAND(HP:0001155), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ATAXIA, EPISODIC(HP:0002131), HYPERREFLEXIA(HP:0001347), BABINSKI SIGN(HP:0003487), ABNORMALITY OF MUSCULATURE(HP:0003011), DYSARTHRIA(HP:0001260), MYOKYMIA(HP:0002411), INCREASED SERUM CREATINE KINASE(HP:0002147), ONSET IN CHILDHOOD(HP:0003578)]
3748	KCNC3	[GAIT ATAXIA(HP:0002066), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LIMB ATAXIA(HP:0002070), PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073), NYSTAGMUS(HP:0000639), VARIABLE AGE AT ONSET(HP:0003618), HYPERREFLEXIA(HP:0001347), ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062), LIMB DYSMETRIA(HP:0002406), MUSCULAR HYPOTONIA(HP:0001252), SLOW PROGRESSION(HP:0003677), DYSARTHRIA(HP:0001260), MOTOR RETARDATION(HP:0001270), CEREBELLAR ATROPHY(HP:0001272)]
3753	KCNE1	[HETEROGENEOUS(HP:0001425), TORSADE DE POINTES(HP:0001664), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645), PROLONGED QT INTERVAL ON EKG(HP:0001657), SYNCOPE(HP:0001279)]
3757	KCNH2	[HETEROGENEOUS(HP:0001425), TORSADE DE POINTES(HP:0001664), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645), PROLONGED QT INTERVAL ON EKG(HP:0001657), SYNCOPE(HP:0001279)]
3758	KCNJ1	[OCCASIONAL HYPOMAGNESEMIA(HP:0003284), HYPERPROSTAGLANDINURIA(HP:0003527), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LARGE EYES(HP:0001090), MACROCEPHALY(HP:0000256), ABNORMAL PLATELET AGGREGATION(HP:0003540), GENERALIZED MUSCLE WEAKNESS(HP:0003324), INCREASED SERUM PROSTAGLANDIN E(HP:0003566), PREMATURE BIRTH(HP:0001622), TRIANGULAR FACIES(HP:0000325), TETANY(HP:0001281), POLYURIA(HP:0000103), INCREASED PLASMA RENIN(HP:0000848), INCREASED PLASMA ALDOSTERONE(HP:0000859), RENAL JUXTAGLOMERULAR CELL HYPERTROPHY/HYPERPLASIA(HP:0000111), POLYHYDRAMNIOS(HP:0001561), FETAL POLYURIA(HP:0001563), HYPERACTIVE RENIN-ANGIOTENSIN SYSTEM(HP:0000841), NEPHROCALCINOSIS(HP:0000121), PARESTHESIA(HP:0003401), RENAL POTASSIUM WASTING(HP:0000128), LARGE EARS(HP:0000400), HYPOSTHENURIA(HP:0003158), MUSCLE CRAMPS(HP:0003394), CONSTIPATION(HP:0002019), OSTEOPENIA(HP:0000938), CHONDROCALCINOSIS(HP:0000934), SEIZURES(HP:0001250), FRONTAL BOSSING(HP:0002007), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), DIARRHEA(HP:0002014), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), LOW BIRTH WEIGHT(HP:0001518), INCREASED URINARY CHLORIDE(HP:0002914), HETEROGENEOUS(HP:0001425), DECREASED BODY HEIGHT(HP:0004322), INCREASED URINARY POTASSIUM(HP:0003081), POLYDIPSIA(HP:0001959), HYPOKALEMIC METABOLIC ALKALOSIS(HP:0001960), DEHYDRATION(HP:0001944), FEVER(HP:0001945), HYPERCALCIURIA(HP:0002150), HYPOCHLOREMIA(HP:0003113), HYPOKALEMIA(HP:0002900), LOW-TO-NORMAL BLOOD PRESSURE(HP:0002632)]
3759	KCNJ2	[DELAYED SKELETAL MATURATION(HP:0002750), MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROMINENT FRONTAL SINUSES(HP:0005478), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), GENERALIZED MUSCLE WEAKNESS(HP:0003324), HYPERTELORISM(HP:0000316), JOINT LAXITY(HP:0001388), FIFTH TOE CLINODACTYLY(HP:0001864), ANTEGONIAL NOTCHING OF MANDIBLE(HP:0003779), SHORT MANDIBULAR RAMI(HP:0003778), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), BROAD FOREHEAD(HP:0000337), PREAURICULAR SINUS(HP:0004467), MILD FACIAL ASYMMETRY(HP:0003775), MANDIBULAR HYPOPLASIA(HP:0000347), PERIODIC PARALYSIS(HP:0003768), HYPOPLASIA OF THE MAXILLA(HP:0000327), TRIANGULAR FACIES(HP:0000325), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), GRACILE LONG BONES(HP:0003061), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), LOW-SET EARS(HP:0000369), BLEPHAROPHIMOSIS(HP:0000581), LEARNING DISABILITY(HP:0001328), BIDIRECTIONAL VENTRICULAR ECTOPY(HP:0005147), PERSISTENCE OF DECIDUOUS TEETH(HP:0006341), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), SMALL FEET(HP:0001764), WEAKNESS(HP:0002309), TOE SYNDACTYLY(HP:0001770), OLIGODONTIA(HP:0000677), SCAPULAR WINGING(HP:0003691), HIGH-ARCHED PALATE(HP:0000156), DELAYED ERUPTION OF SECONDARY TEETH(HP:0000696), BULBOUS NASAL TIP(HP:0000443), CLEFT PALATE(HP:0000175), GROWTH ABNORMALITY(HP:0001507), SYNCOPE(HP:0001279), SMALL HANDS(HP:0001165), THIN UPPER LIP(HP:0000219), PALPITATIONS(HP:0001962), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), HYPOKALEMIA(HP:0002900)]
3767	KCNJ11	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), DIABETES MELLITUS(HP:0000819), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERINSULINEMIC HYPOGLYCEMIA(HP:0000825), PROMINENT METOPIC SUTURE(HP:0005487), LARGE FOR GESTATIONAL AGE(HP:0001520), SEIZURES(HP:0001250), DOWNTURNED CORNERS OF MOUTH(HP:0002714), IMMUNOLOGICAL ABNORMALITY(HP:0002715), SMALL, SHORT NOSE(HP:0003192), DEVELOPMENTAL RETARDATION(HP:0001263), ISLET CELL HYPERPLASIA, DIFFUSE(HP:0001736), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), KETOACIDOSIS(HP:0001993), LOW BIRTH WEIGHT(HP:0001518), BETA-CELL DYSFUNCTION(HP:0006279), LONG PHILTRUM(HP:0000343), HETEROGENEOUS(HP:0001425), CLINODACTYLY OF HANDS(HP:0001157), NARES, ANTEVERTED(HP:0000463), HYPSARRHYTHMIA(HP:0002521), HYPERGLYCEMIA(HP:0003074), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LIMB CONTRACTURES(HP:0003121), MUSCLE WEAKNESS(HP:0001324), ABNORMALITY OF THE EARS(HP:0000598)]
3769	KCNJ13	[CATARACT(HP:0000518), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
3778	KCNMA1	[GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INVOLUNTARY DYSTONIC OR CHOREIFORM MOVEMENTS(HP:0007166), ONSET IN CHILDHOOD(HP:0003578)]
3784	KCNQ1	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SUDDEN CARDIAC DEATH(HP:0001645), PROLONGED QT INTERVAL ON EKG(HP:0001657), ATRIAL FIBRILLATION, ISOLATED(HP:0001715), THROMBOEMBOLIC STROKE MAY OCCUR(HP:0001727), TACHYCARDIA(HP:0001649), CONGENITAL SENSORINEURAL HEARING LOSS(HP:0008527), IRREGULAR HEART BEAT(HP:0001721), TORSADE DE POINTES(HP:0001664), GROWTH ABNORMALITY(HP:0001507), SYNCOPE(HP:0001279)]
3785	KCNQ2	[FEBRILE SEIZURES(HP:0002373), HETEROGENEOUS(HP:0001425), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), FOCAL CLONIC SEIZURES(HP:0002266), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), APNEA DURING SEIZURE SPELLS(HP:0002794), INCREASED RISK OF SEIZURES IN CHILDHOOD OR ADULTHOOD (11-16%)(HP:0002479), MYALGIA(HP:0003326), SEIZURES, AFEBRILE(HP:0002348), FEVER(HP:0001945), MYOKYMIA(HP:0002411), EPILEPSY(HP:0001275)]
3786	KCNQ3	[HETEROGENEOUS(HP:0001425), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), INCREASED RISK OF SEIZURES IN CHILDHOOD OR ADULTHOOD (11-16%)(HP:0002479), FOCAL CLONIC SEIZURES(HP:0002266), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SEIZURES, AFEBRILE(HP:0002348), EPILEPSY(HP:0001275)]
3791	KDR	[SPORADIC(HP:0003745), CAPILLARY HEMANGIOMAS(HP:0005306), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
3795	KHK	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
3798	KIF5A	[SPASTIC GAIT(HP:0002064), PES CAVUS(HP:0001761), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), URINARY URGENCY(HP:0000012), LIMB MUSCLE WEAKNESS(HP:0003690), SPHINCTER DISTURBANCE(HP:0000018), URINARY INCONTINENCE(HP:0000020), ANKLE OR KNEE CLONUS(HP:0002325), LOWER LIMB SPASTICITY(HP:0002061), HYPERREFLEXIA(HP:0001347), AGE OF ONSET(HP:0003674), PROGRESSIVE DISORDER(HP:0003676), SPASTIC PARAPLEGIA(HP:0001258), SPHINCTER DISTURBANCES (BLADDER)(HP:0002839), HETEROGENEOUS(HP:0001425), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), DECREASED VIBRATORY SENSE IN THE LOWER LIMBS(HP:0002166), SCOLIOSIS(HP:0002650)]
3815	KIT	[FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667), GENITOURINARY ABNORMALITY(HP:0000119), ISOLATED CASES(HP:0001420)]
3818	KLKB1	[PROLONGED PARTIAL THROMBOPLASTIN TIME(HP:0003645), HEMATOLOGICAL ABNORMALITY(HP:0001871), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
3845	KRAS	[PULMONIC STENOSIS(HP:0001642), DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), OPTIC NERVE DYSPLASIA(HP:0001093), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), SLOW-GROWING HAIR(HP:0002217), ATRIAL SEPTAL DEFECT(HP:0001631), PREMATURE BIRTH(HP:0001622), CAVERNOUS HEMANGIOMA(HP:0001048), NYSTAGMUS(HP:0000639), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), ABSENT EYEBROWS AND EYELASHES(HP:0002288), POLYHYDRAMNIOS(HP:0001561), MULTIPLE PLANTAR CREASES(HP:0008113), HYDRONEPHROSIS(HP:0000126), SEVERE ATOPIC DERMATITIS(HP:0007533), HIGH-ARCHED PALATE(HP:0000156), MUSCULAR HYPOTONIA(HP:0001252), CHRONIC ATROPHIC GASTRITIS(HP:0002582), SEIZURES(HP:0001250), EXOPHTHALMOS(HP:0000645), ABNORMALITY OF THE TEETH(HP:0000164), SPLENOMEGALY(HP:0001744), MULTIPLE PALMAR CREASES(HP:0006114), RESPIRATORY ABNORMALITY(HP:0002086), RELATIVE MACROCEPHALY(HP:0004482), HYPERTONIA(HP:0001276), SUBMUCOUS CLEFT PALATE(HP:0000176), OCULOMOTOR APRAXIA(HP:0000657), CLINODACTYLY OF HANDS(HP:0001157), ALVEOLAR CELL CARCINOMA(HP:0006519), PECTUS EXCAVATUM(HP:0000767), CEREBRAL CORTICAL ATROPHY(HP:0002120), MICROGNATHIA(HP:0000210), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), HYPEREXTENSIBILITY OF THE FINGER JOINTS(HP:0001187), HYDROCEPHALUS(HP:0000238), ONSET IN UTERO OR AT BIRTH(HP:0003601), COARSE FACIAL FEATURES(HP:0000280), EPICANTHUS(HP:0000286), BREAST CANCER(HP:0003002), DOLICHOCEPHALY(HP:0000268), PROMINENT PHILTRUM(HP:0000305), BITEMPORAL NARROWING(HP:0000314), HYPERTELORISM(HP:0000316), PECTUS CARINATUM(HP:0000768), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), HYPOPLASTIC FRONTAL LOBES(HP:0007333), POSTERIORLY ROTATED EARS(HP:0000358), HEARING LOSS(HP:0000365), ICHTHYOSIS(HP:0000955), BLADDER CARCINOMA(HP:0002862), CONSTIPATION(HP:0002019), GASTROESOPHAGEAL REFLUX(HP:0002020), OSTEOPENIA(HP:0000938), FEEDING DIFFICULTIES(HP:0002022), SHORT, UPTURNED NOSE(HP:0000441), BULBOUS NASAL TIP(HP:0000443), FRONTAL BOSSING(HP:0002007), VOMITING(HP:0002013), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), SHALLOW ORBITAL RIDGES(HP:0005337), HETEROGENEOUS(HP:0001425), TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), DECREASED BODY HEIGHT(HP:0004322), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), HYPERKERATOSIS(HP:0000962), STRABISMUS(HP:0000486)]
3848	KRT1	[ERYTHRODERMA(HP:0001019), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ICHTHYOSIS(HP:0000955), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), ABNORMALITY OF THE NAILS(HP:0001597), HAIR ABNORMALITY(HP:0001595), CONGENITAL ICHTHYOSIS(HP:0007484), NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA(HP:0007404), EPIDERMOLYTIC HYPERKERATOSIS(HP:0007475), INCREASED IGE LEVEL(HP:0003212), LOCALIZED EPIDERMOLYTIC HYPERKERATOSIS(HP:0007559), PALMOPLANTAR HYPERKERATOSIS(HP:0000972)]
3849	KRT2	[CONGENITAL ICHTHYOSIS(HP:0007484), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ICHTHYOSIS(HP:0000955)]
3850	KRT3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), FINE PUNCTATE CORNEAL OPACITIES(HP:0007856), NONPROGRESSIVE CORNEAL DYSTROPHY(HP:0007775), JUVENILE EPITHELIAL CORNEAL DYSTROPHY(HP:0007755), NONPROGRESSIVE DISORDER(HP:0003680)]
3851	KRT4	[ABNORMALITY OF THE EYES(HP:0000478), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE SKIN(HP:0000951), ABNORMALITY OF THE MOUTH(HP:0000153)]
3852	KRT5	[RETICULAR HYPERPIGMENTATION(HP:0007588), PUNCTATE PALMOPLANTAR HYPERKERATOSIS(HP:0007530), PROGRESSIVE RETICULATE HYPERPIGMENTATION(HP:0007456), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), ONSET IN NEONATAL PERIOD(HP:0003623), HYPERACTIVITY(HP:0000752), NAIL DYSPLASIA(HP:0002164), METABOLISM ABNORMALITY(HP:0001939), 'MOTTLED' PIGMENTATION OF THE TRUNK AND PROXIMAL EXTREMITIES(HP:0007438), BLISTERS ESP ON PALMS, SOLES, PERIORAL, TRUNK AND NECK(HP:0007496), DISCRETE 2 TO 5-MM HYPER- AND HYPOPIGMENTED MACULES(HP:0007494), MILIA(HP:0001056), THICKENED NAILS(HP:0001805), AUTOSOMAL DOMINANT MUTATION OF KERATIN 5 (KRT5(HP:0001447), ONSET IN ADOLESCENCE(HP:0003590), EPIDERMOLYSIS BULLOSA INVOLVING HANDS AND FEET ONLY(HP:0007446), ONSET IN CHILDHOOD(HP:0003578), HYPERKINESIS(HP:0002487)]
3853	KRT6A	[FOLLICULAR HYPERKERATOSIS(HP:0007502), HETEROGENEOUS(HP:0001425), ONYCHOGRYPOSIS(HP:0001819), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE MOUTH(HP:0000153), PALMOPLANTAR HYPERKERATOSIS(HP:0000972)]
3854	KRT6B	[HETEROGENEOUS(HP:0001425), PALMOPLANTAR HYPERHIDROSIS(HP:0007410), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DRY, SPARSE SCALP HAIR(HP:0004534), NEONATAL TEETH(HP:0000695), HOARSE VOICE(HP:0001609), NAIL DYSPLASIA(HP:0002164), SPARSE EYEBROWS(HP:0000535), PALMOPLANTAR HYPERKERATOSIS(HP:0000972)]
3857	KRT9	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCREASED IGE LEVEL(HP:0003212), LOCALIZED EPIDERMOLYTIC HYPERKERATOSIS(HP:0007559), PALMOPLANTAR KERATODERMA(HP:0000982), PALMOPLANTAR HYPERKERATOSIS(HP:0000972)]
3858	KRT10	[ERYTHRODERMA(HP:0001019), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ICHTHYOSIS(HP:0000955), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), ABNORMALITY OF THE NAILS(HP:0001597), CONGENITAL ICHTHYOSIS(HP:0007484), HAIR ABNORMALITY(HP:0001595), PALMOPLANTAR HYPERKERATOSIS(HP:0000972), PIGMENTED NEVI(HP:0000995), EPIDERMOLYTIC HYPERKERATOSIS(HP:0007475)]
3859	KRT12	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), FINE PUNCTATE CORNEAL OPACITIES(HP:0007856), NONPROGRESSIVE CORNEAL DYSTROPHY(HP:0007775), JUVENILE EPITHELIAL CORNEAL DYSTROPHY(HP:0007755), NONPROGRESSIVE DISORDER(HP:0003680)]
3860	KRT13	[ABNORMALITY OF THE EYES(HP:0000478), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE SKIN(HP:0000951), ABNORMALITY OF THE MOUTH(HP:0000153)]
3861	KRT14	[ABNORMALITY OF THE EYES(HP:0000478), RETICULAR HYPERPIGMENTATION(HP:0007588), HYPOHIDROSIS/HYPERHIDROSIS(HP:0007550), LOSS OF TEETH(HP:0000701), ONSET IN NEONATAL PERIOD(HP:0003623), NAIL DYSPLASIA(HP:0002164), METABOLISM ABNORMALITY(HP:0001939), BLISTERS ESP ON PALMS, SOLES, PERIORAL, TRUNK AND NECK(HP:0007496), MILIA(HP:0001056), ALOPECIA OF SCALP(HP:0002293), PALMOPLANTAR KERATODERMA(HP:0000982), FRAGILE NAILS(HP:0001808), CARIOUS TEETH(HP:0000670), ADERMATOGLYPHIA(HP:0007455), AUTOSOMAL DOMINANT MUTATION OF KERATIN 5 (KRT5(HP:0001447), PALMOPLANTAR HYPERKERATOSIS(HP:0000972), EPIDERMOLYSIS BULLOSA INVOLVING HANDS AND FEET ONLY(HP:0007446), HYPOHIDROSIS(HP:0000966)]
3868	KRT16	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE MOUTH(HP:0000153), NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA(HP:0007404), INCREASED IGE LEVEL(HP:0003212), FOLLICULAR HYPERKERATOSIS(HP:0007502), ONYCHOGRYPOSIS(HP:0001819), LOCALIZED EPIDERMOLYTIC HYPERKERATOSIS(HP:0007559), PALMOPLANTAR HYPERKERATOSIS(HP:0000972)]
3872	KRT17	[HETEROGENEOUS(HP:0001425), PALMOPLANTAR HYPERHIDROSIS(HP:0007410), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DRY, SPARSE SCALP HAIR(HP:0004534), NEONATAL TEETH(HP:0000695), HOARSE VOICE(HP:0001609), NAIL DYSPLASIA(HP:0002164), SPARSE EYEBROWS(HP:0000535), ONSET BEFORE ADOLESCENCE(HP:0003659), PALMOPLANTAR HYPERKERATOSIS(HP:0000972), ONSET IN ADOLESCENCE(HP:0003590)]
3887	KRT81	[PERIFOLLICULAR HYPERKERATOSIS(HP:0007468), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ALOPECIA(HP:0001596)]
3889	KRT83	[PERIFOLLICULAR HYPERKERATOSIS(HP:0007468), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ALOPECIA(HP:0001596)]
3891	KRT85	[CONGENITAL ONYCHODYSTROPHY(HP:0008394), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HAIR-NAIL ECTODERMAL DYSPLASIA(HP:0007436), ABNORMALITY OF THE NECK(HP:0000464), PILI TORTI(HP:0003777), ONYCHOLYSIS(HP:0001806), TEMPORAL HYPOTRICHOSIS(HP:0004524)]
3892	KRT86	[PERIFOLLICULAR HYPERKERATOSIS(HP:0007468), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ALOPECIA(HP:0001596)]
3897	L1CAM	[TALIPES EQUINOVARUS(HP:0001762), KYPHOSIS(HP:0002808), PES CAVUS(HP:0001761), CONTRACTURES(HP:0001371), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), APHASIA(HP:0002381), DECREASED BODY HEIGHT(HP:0004322), JOINT CONTRACTURES OF THE THUMB(HP:0009600), ENTEROCOLITIS(HP:0004387), CONSTIPATION(HP:0002019), MACROCEPHALY(HP:0000256), VENTRICULOMEGALY(HP:0002119), ABDOMINAL DISTENTION(HP:0003270), HYPOPLASIA OF INFERIOR VERMIS AND CEREBELLUM(HP:0005724), CONGENITAL MEGACOLON(HP:0002251), X-LINKED RECESSIVE INHERITANCE(HP:0001419), BARIUM ENEMA SHOWS TRANSITION ZONE BETWEEN AGANGLIONIC CONTRACTED SEGMENT AND DILATED PROXIMAL BOWEL(HP:0002606), HYPODYSPLASIA OF THE CORPUS CALLOSUM(HP:0006849), LORDOSIS(HP:0002939), ADDUCTED THUMBS(HP:0001181), LOWER LIMB SPASTICITY(HP:0002061), HYDROCEPHALUS(HP:0000238), PARTIAL AGENESIS OF THE CORPUS CALLOSUM(HP:0001338), METABOLISM ABNORMALITY(HP:0001939), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), UNUSUAL FACIES(HP:0002004), CORTICOSPINAL TRACT HYPOPLASIA(HP:0007016), ABSENT SEPTUM PELLUCIDUM(HP:0001331), SPASTIC PARAPLEGIA(HP:0001258), AQUEDUCTAL STENOSIS(HP:0002410), VOMITING(HP:0002013), MICROCEPHALY(HP:0000252), STRABISMUS(HP:0000486), SHUFFLING GAIT(HP:0002362)]
3908	LAMA2	[KYPHOSCOLIOSIS(HP:0002751), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCREASED CREATINE KINASE(HP:0003078), MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES(HP:0003544), MUSCULAR DYSTROPHY, CONGENITAL(HP:0003793), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), ABNORMAL CORTICAL GYRATION(HP:0002536), MUSCLE WEAKNESS, SEVERE(HP:0008979), ONSET AT BIRTH OR EARLY INFANCY(HP:0003666), MOTOR RETARDATION(HP:0001270), INCREASED CONNECTIVE TISSUE(HP:0009025), HYPODENSITY OF CEREBRAL WHITE MATTER ON MRI(HP:0007103)]
3909	LAMA3	[ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RECURRENT LOSS OF TOENAILS AND FINGERNAILS(HP:0008390), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), PYLORIC STENOSIS(HP:0002021), PALMAR HYPERHIDROSIS(HP:0006089), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), CONGENITAL LOCALIZED ABSENCE OF SKIN(HP:0007383), WEAK CRY(HP:0001612), DEATH IN INFANCY(HP:0001522), HOARSE CRY(HP:0001615), HYPODONTIA(HP:0000668), FAILURE TO THRIVE(HP:0001508), CARIOUS TEETH(HP:0000670), ONSET IN UTERO(HP:0003660), ONSET IN CHILDHOOD(HP:0003578), ABNORMALITY OF THE EYES(HP:0000478), HETEROGENEOUS(HP:0001425), SKIN CLEAVAGE IN THE LAMINA LUCIDA(HP:0003341), NAIL DYSPLASIA(HP:0002164), PLANTAR HYPERKERATOSIS(HP:0007556), AMELOGENESIS IMPERFECTA(HP:0000705), MILIA(HP:0001056), FRAGILE NAILS(HP:0001808), ATROPHIC SCARS(HP:0001075), ONSET IN EARLY INFANCY(HP:0003591), MILD FINGER CONTRACTURES(HP:0006218)]
3912	LAMB1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ARACHNODACTYLY(HP:0001166), EMPHYSEMA(HP:0002097), METABOLISM ABNORMALITY(HP:0001939), DISLOCATED HIPS(HP:0002827), CARDIAC MALFORMATION(HP:0002564), CUTIS LAXA(HP:0000973), DIAPHRAGMATIC HERNIA(HP:0000776)]
3913	LAMB2	[HYPOPLASIA OF THE CILIARY BODY(HP:0007774), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE PHENOTYPE(HP:0003813), HYPOPLASIA OF THE IRIS(HP:0007676), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), LENTICONUS(HP:0001142), END STAGE RENAL DISEASE(HP:0003774), BLINDNESS(HP:0000618), PROTEINURIA(HP:0000093), ONSET IN NEONATAL PERIOD(HP:0003623), DIFFUSE MESANGIAL SCLEROSIS(HP:0001967), HYPOPROTEINEMIA(HP:0003075), AREFLEXIA(HP:0001284), NEPHROTIC SYNDROME(HP:0000100), EDEMA(HP:0000969)]
3914	LAMB3	[ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), PYLORIC STENOSIS(HP:0002021), PALMAR HYPERHIDROSIS(HP:0006089), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), CONGENITAL LOCALIZED ABSENCE OF SKIN(HP:0007383), DEATH IN INFANCY(HP:0001522), HYPODONTIA(HP:0000668), FAILURE TO THRIVE(HP:0001508), CARIOUS TEETH(HP:0000670), ONSET IN UTERO(HP:0003660), ONSET IN CHILDHOOD(HP:0003578), HETEROGENEOUS(HP:0001425), SKIN CLEAVAGE IN THE LAMINA LUCIDA(HP:0003341), NAIL DYSPLASIA(HP:0002164), PLANTAR HYPERKERATOSIS(HP:0007556), MILIA(HP:0001056), FRAGILE NAILS(HP:0001808), ATROPHIC SCARS(HP:0001075), MILD FINGER CONTRACTURES(HP:0006218)]
3918	LAMC2	[ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), PYLORIC STENOSIS(HP:0002021), PALMAR HYPERHIDROSIS(HP:0006089), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), CONGENITAL LOCALIZED ABSENCE OF SKIN(HP:0007383), DEATH IN INFANCY(HP:0001522), HYPODONTIA(HP:0000668), FAILURE TO THRIVE(HP:0001508), CARIOUS TEETH(HP:0000670), ONSET IN UTERO(HP:0003660), ONSET IN CHILDHOOD(HP:0003578), HETEROGENEOUS(HP:0001425), SKIN CLEAVAGE IN THE LAMINA LUCIDA(HP:0003341), NAIL DYSPLASIA(HP:0002164), PLANTAR HYPERKERATOSIS(HP:0007556), MILIA(HP:0001056), FRAGILE NAILS(HP:0001808), ATROPHIC SCARS(HP:0001075), MILD FINGER CONTRACTURES(HP:0006218)]
3920	LAMP2	[MITOCHONDRIAL INHERITANCE(HP:0001427), HYPOKINESIA(HP:0002375), DIFFUSE MUSCLE ATROPHY(HP:0009074), CARDIOMEGALY(HP:0001640), PES CAVUS(HP:0001761), SUBNORMAL VISUAL ACUITY(HP:0007860), MYOCARDIAL NECROSIS(HP:0001700), COGNITIVE IMPAIRMENT, MILD(HP:0002129), MUSCLE CRAMPS WITH EXERCISE(HP:0003710), DILATED CARDIOMYOPATHY(HP:0001644), DEVELOPMENTAL RETARDATION(HP:0001263), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), PROXIMAL MUSCLE WEAKNESS(HP:0003701), MYOCARDIAL FIBROSIS(HP:0001685), WOLF-PARKINSON-WHITE SYNDROME(HP:0001716), INCREASED SERUM CREATINE KINASE(HP:0002147), PHENOTYPIC VARIABILITY(HP:0003812), X-LINKED DOMINANT INHERITANCE(HP:0001423), EXERCISE INTOLERANCE(HP:0003546)]
3930	LBR	[PLEURAL EFFUSION(HP:0002202), CARDIOMEGALY(HP:0001640), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEONATAL DEATH(HP:0003811), MILD PORTAL FIBROSIS(HP:0006580), HYPERKYPHOSIS(HP:0003314), LIVER CALCIFICATIONS(HP:0006559), VENTRICULAR SEPTAL DEFECT(HP:0001629), SCLEROTIC SKULL BASE(HP:0002694), STERNAL PUNCTATE CALCIFICATIONS(HP:0006637), ANTERIOR AND POSTERIOR RIB FLARING(HP:0006635), HYPOPLASIA INVOLVING BONES OF THE UPPER LIMBS(HP:0009824), DIAPHYSEAL BOWING OF LONG BONES(HP:0005908), MALPOSITION OF TEETH(HP:0001569), LARYNGEAL CALCIFICATIONS(HP:0008754), TRACHEAL CALCIFICATIONS(HP:0002787), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), UMBILICAL HERNIA(HP:0001537), OMPHALOCELE(HP:0001539), POLYHYDRAMNIOS(HP:0001561), ANTERIOR RIB PUNCTATE CALCIFICATIONS(HP:0006619), BARREL-SHAPED CHEST(HP:0001552), PES CAVUS(HP:0001761), DIAPHYSEAL THICKENING(HP:0005019), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), NONIMMUNE HYDROPS FETALIS(HP:0001790), ISLETS OF LANGERHANS HYPERPLASIA(HP:0004510), ABNORMAL LUNG LOBATION(HP:0002101), MENTAL RETARDATION(HP:0001249), VERTEBRAL CALCIFICATIONS(HP:0008420), VERTEBRAL HYPOPLASIA(HP:0008417), INTESTINAL MALROTATION(HP:0002566), PULMONARY HYPOPLASIA(HP:0002089), ABSENT OR MINIMALLY OSSIFIED VERTEBRAL BODIES(HP:0004599), PLATYSPONDYLY WITH MULTIPLE EXTRA OSSIFICATION CENTERS(HP:0004598), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), BROAD HANDS(HP:0001169), GINGIVAL HYPERPLASIA(HP:0000212), ABNORMALITY OF THE CALCANEUS(HP:0008364), BONE MARROW HYPOPLASIA(HP:0005528), ABNORMALITY OF CHOLESTEROL METABOLISM(HP:0003107), HYPOPLASTIC/SHORT 5TH METACARPAL(HP:0010047), MALAR HYPOPLASIA(HP:0000272), HYPOPLASTIC/SHORT 4TH METACARPAL(HP:0010044), HYPOPLASTIC/SHORT 3RD METACARPAL(HP:0010041), ABNORMALITY OF THE JOINTS(HP:0001367), MICROMELIA(HP:0002983), MILD THROMBOCYTOPENIA(HP:0001906), ABNORMALITY OF THE VERTEBRAL SPINOUS PROCESSES(HP:0008516), MACROCEPHALY(HP:0000256), GIANT PLATELETS(HP:0001902), ULNAR DEVIATION OF THE HAND(HP:0009487), LETHAL SKELETAL DYSPLASIA(HP:0005716), NEUTROPENIA(HP:0001875), HYPERTELORISM(HP:0000316), NARROW CHEST(HP:0000774), SHORT RIBS(HP:0000773), FOOT DORSIFLEXOR WEAKNESS(HP:0009027), ABNORMALITY OF THE SCAPULAE(HP:0000782), GAP BETWEEN FIRST AND SECOND TOES(HP:0001852), HIGH FOREHEAD(HP:0000348), LONG CLAVICLES(HP:0000890), MANDIBULAR HYPOPLASIA(HP:0000347), HYPOPLASTIC VERTEBRAL BODIES(HP:0008479), HYPOPLASIA OF THE MAXILLA(HP:0000327), STIPPLING OF THE EPIPHYSES(HP:0010655), POSTAXIAL POLYDACTYLY (FEET)(HP:0001830), BRACHYDACTYLY (FEET)(HP:0001831), 11 PAIRS OF RIBS(HP:0000878), LOW-SET EARS(HP:0000369), METAPHYSEAL CUPPING(HP:0003021), PATCHY INCREASED AND DECREASED BONE MINERAL DENSITY(HP:0010659), METAPHYSEAL FLARING(HP:0003015), MILD SHORT STATURE(HP:0003502), SHORT LIMB DWARFISM(HP:0003505), HYPOPLASTIC FINGERNAILS(HP:0001804), ABSENT TOENAILS(HP:0001802), LOWER LIMB HYPERTONIA(HP:0006895), ABNORMALITY OF THE MINERALISATION AND OSSIFICATION OF BONES OF THE FEET(HP:0010675), RECURRENT OTITIS MEDIA(HP:0000403), SHORT DIAPHYSES(HP:0000941), MULTIPLE PRENATAL FRACTURES(HP:0005855), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), HORIZONTAL SACRUM(HP:0003440), CYSTIC HYGROMA OF THE NECK(HP:0000476), ABNORMALITY OF THE CHROMOSOMES(HP:0002916), DECREASED SKULL OSSIFICATION(HP:0004331), ABNORMAL BONE LABORATORY EXAMINATION(HP:0003330), HEPATOSPLENOMEGALY(HP:0001433), LOWER LIMB HYPERREFLEXIA(HP:0002395), EXTRAMEDULLARY ERYTHROPOIESIS(HP:0004847), ABNORMAL OSSIFICATION INVOLVING THE BONES OF THE PELVIS(HP:0009106), ABNORMAL OSSIFICATION INVOLVING THE FEMORAL HEAD AND NECK(HP:0009107), MEDIAN CLEFT PALATE(HP:0009099), STRABISMUS(HP:0000486), ECZEMA(HP:0000964)]
3931	LCAT	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCREASED SERUM TRIGLYCERIDES(HP:0003082), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), NORMOCHROMIC ANEMIA(HP:0001895), CORNEAL CLOUDING(HP:0000515), INCREASED PLASMA VLDL(HP:0003362), HEMOLYTIC ANEMIA(HP:0001878), DECREASED HDL CHOLESTEROL(HP:0003233)]
3938	LCT	[METABOLIC ACIDOSIS(HP:0001942), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE ABDOMEN(HP:0001438), DEHYDRATION(HP:0001944)]
3949	LDLR	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), XANTHELASMA(HP:0001114), HYPERCHOLESTEROLEMIA(HP:0003124), CORNEAL ARCUS(HP:0001084), CORONARY ARTERY DISEASE PRESENTING AFTER AGE 30 YEARS IN HETEROZYGOTES, IN CHILDHOOD IN HOMOZYGOTES(HP:0005138)]
3972	LHB	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOGONADISM, MALE(HP:0000026), MALE INFERTILITY(HP:0003251), METABOLISM ABNORMALITY(HP:0001939), MALE PSEUDOHERMAPHRODITISM(HP:0000037), AMBIGUOUS EXTERNAL GENITALIA(HP:0008693)]
3973	LHCGR	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCOMPLETE MALE PSEUDOHERMAPHRODITISM(HP:0008656), SEX-LIMITED AUTOSOMAL DOMINANT(HP:0001470), MALE-LIMITED AUTOSOMAL DOMINANT(HP:0001475), ELEVATED GONADOTROPINS(HP:0000837), PRECOCIOUS PUBERTY IN MALES(HP:0008185), DECREASED TESTICULAR SIZE(HP:0008734), ONSET IN ADOLESCENCE(HP:0003590), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), CRYPTORCHIDISM(HP:0000028)]
3977	LIFR	[FLEXION CONTRACTURES OF THE TOES(HP:0008128), MALAR HYPOPLASIA(HP:0000272), CONTRACTURES(HP:0001371), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KNEE CONTRACTURES(HP:0002978), DYSAUTONOMIA(HP:0002459), HOARSE VOICE(HP:0001609), ABSENT PATELLAR REFLEXES(HP:0006844), HYPERNASAL SPEECH(HP:0001614), CORNEAL CLOUDING(HP:0000515), GENU VARUM(HP:0002970), THIN RIBS(HP:0000883), GENU VARUS(HP:0003052), SQUARE FACE(HP:0000321), HYPERTROPHY OF THE PULMONARY ARTERY WALL(HP:0004939), BLOTCHING PIGMENTATION OF THE SKIN(HP:0007610), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), LOW-SET EARS(HP:0000369), RAREFACTION OF THE METAPHYSES(HP:0004980), BLEPHAROPHIMOSIS(HP:0000581), RADIOLUCENT METAPHYSES HAVE ABNORMAL TRABECULAR PATTERN(HP:0006360), SHORT LONG BONES(HP:0003026), PATHOLOGIC FRACTURE(HP:0002756), TRANSVERSE PALMAR CREASES(HP:0000954), FLARED IRREGULAR METAPHYSES(HP:0000945), CONGENITAL BOWING OF THE LONG BONES(HP:0006451), OSTEOPOROSIS(HP:0000939), FEEDING DIFFICULTIES(HP:0002022), THICKENED CORTEX OF LONG BONES(HP:0000935), MUSCULAR HYPOTONIA(HP:0001252), NASAL HYPOPLASIA(HP:0003196), FRONTAL BOSSING(HP:0002007), CAMPTODACTYLY WITH ULNAR DEVIATION(HP:0005047), APNEA(HP:0002104), DYSPHAGIA(HP:0002015), ABNORMALITY OF THE TEETH(HP:0000164), PULMONARY HYPOPLASIA(HP:0002089), PULMONARY HYPERTENSION(HP:0002092), RESPIRATORY INSUFFICIENCY(HP:0002093), PURSED LIPS(HP:0000205), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), SHORT, SLENDER LONG BONES(HP:0005064), FEVER, EPISODIC(HP:0001954), ADDUCTED THUMBS(HP:0001181), MICROGNATHIA(HP:0000210), ABNORMALITY OF THE PELVIS(HP:0002644), SCOLIOSIS(HP:0002650), THIN SKIN(HP:0000963), ULNAR DEVIATION OF FINGERS(HP:0009465)]
3988	LIPA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ESOPHAGEAL VARICES(HP:0002040), VACUOLATED BLOOD LYMPHOCYTES(HP:0008147), XANTHELASMA(HP:0001114), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), DEATH IN INFANCY(HP:0001522), POOR WEIGHT GAIN(HP:0001535), DIARRHEA(HP:0002014), HEPATIC FIBROSIS(HP:0001395), VOMITING(HP:0002013), PULMONARY HYPERTENSION(HP:0002092), STEATORRHEA(HP:0002570), HEPATOSPLENOMEGALY(HP:0001433), LARGE VACUOLATED FOAM CELLS ('NP CELLS') ON BONE MARROW BIOPSY(HP:0001979), PROTUBERANT ABDOMEN(HP:0001538), HYPERCHOLESTEROLEMIA(HP:0003124)]
3990	LIPC	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ERUPTIVE XANTHOMAS(HP:0001013), ANGINA PECTORIS(HP:0001681)]
3998	LMAN1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACTOR V DEFICIENCY(HP:0003225), BLEEDING DIATHESIS(HP:0001892), FACTOR VIII DEFICIENCY(HP:0003125)]
4000	LMNA	[KYPHOSCOLIOSIS(HP:0002751), MALAR HYPOPLASIA(HP:0000272), HYPERTENSION(HP:0000822), ELBOW CONTRACTURES(HP:0002987), DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SUDDEN CARDIAC DEATH(HP:0001645), CONGESTIVE HEART FAILURE(HP:0001635), INSULIN-RESISTANT DIABETES MELLITUS(HP:0000831), NORMAL OR INCREASED FACIAL ADIPOSE TISSUE(HP:0000287), MYOCARDIAL INFARCTION(HP:0001658), DECREASED CERVICAL SPINE FLEXION DUE TO CONTRACTURES OF POSTERIOR CERVICAL MUSCLES(HP:0004631), BRADYCARDIA(HP:0001662), DIFFICULTY CLIMBING STAIRS(HP:0003551), DELAYED CLOSURE OF FONTANELLES(HP:0000270), LIMB-GIRDLE MUSCULAR DYSTROPHY(HP:0006785), SHOULDER GIRDLE MUSCLE WEAKNESS(HP:0003547), ROUND, FULL FACE(HP:0000304), MYALGIA(HP:0003326), HEPATIC STEATOSIS(HP:0001397), GENERALIZED MUSCLE WEAKNESS(HP:0003324), QUADRICEPS MUSCLE ATROPHY(HP:0009050), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), MUSCULAR DYSTROPHY(HP:0003560), ACROOSTEOLYSIS OF DISTAL PHALANGES (FEET)(HP:0001870), RESTRICTED NECK MOVEMENT DUE TO CONTRACTURES(HP:0005997), FULL CHEEKS(HP:0000293), JOINT STIFFNESS(HP:0001387), GENERALIZED OSTEOPOROSIS WITH PATHOLOGIC FRACTURES(HP:0005744), PROMINENT EYES(HP:0000536), SPINAL RIGIDITY(HP:0003306), ONSET IN CHILDHOOD(HP:0003578), OSTEOLYTIC DEFECTS OF THE DISTAL PHALANGES OF THE HAND(HP:0009839), LABIAL PSEUDOHYPERTROPHY(HP:0008739), MANDIBULAR HYPOPLASIA(HP:0000347), PROXIMAL MUSCLE INVOLVEMENT MAY OCCUR(HP:0003475), ALOPECIA(HP:0001596), BIRD-LIKE FACIES(HP:0000320), PREMATURE CORONARY ARTERY DISEASE(HP:0005181), INCREASED INTRAABDOMINAL FAT(HP:0008993), AXONAL NEUROPATHY(HP:0003477), MILDLY INCREASED SERUM CREATINE KINASE(HP:0003211), LOSS OF SUBCUTANEOUS TRUNCAL ADIPOSE TISSUE(HP:0009002), HEPATOMEGALY(HP:0002240), UPPER LIMB INVOLVEMENT MAY OCCUR LATER(HP:0003484), AREFLEXIA(HP:0001284), MOTTLED PIGMENTATION(HP:0001070), QUADRICEPS MUSCLE WEAKNESS(HP:0003731), INCREASED INTRAMUSCULAR FAT(HP:0008985), DECREASED HDL CHOLESTEROL(HP:0003233), GLUCOSE INTOLERANCE(HP:0000833), MUSCLE HYPERTROPHY(HP:0003712), ATRIOVENTRICULAR CONDUCTION DISTURBANCES(HP:0005150), PRECOCIOUS ATHEROSCLEROSIS(HP:0004416), HYPERINSULINEMIA(HP:0000842), ACANTHOSIS NIGRICANS(HP:0000956), ATRIAL FIBRILLATION OR FLUTTER(HP:0004749), HYPOPLASTIC TEETH(HP:0000685), PES CAVUS(HP:0001761), BLONDE, SPARSE SCALP HAIR(HP:0004542), WEAKNESS(HP:0002309), ACHILLES TENDON CONTRACTURES(HP:0001771), DENTAL OVERCROWDING(HP:0000678), PROXIMAL MUSCLE WEAKNESS(HP:0003701), LOSS OF TEETH(HP:0000701), HIGH-ARCHED PALATE(HP:0000156), HIP GIRDLE MUSCLE WEAKNESS (USUALLY PRESENTING SYMPTOM)(HP:0003692), DISTAL AMYOTROPHY(HP:0003693), DISTAL LOWER LIMB MUSCLE WEAKNESS AND ATROPHY(HP:0008944), POLYCYSTIC OVARIES(HP:0000147), MILD JOINT CONTRACTURES(HP:0005053), NORMAL OR MILDLY DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003437), SLOW PROGRESSION(HP:0003677), PANCREATITIS, ACUTE(HP:0001735), ONSET BEFORE AGE 2 YEARS(HP:0003667), DIFFICULTY WALKING(HP:0002355), GROWTH RETARDATION(HP:0001510), PROGRESSIVE ACROOSTEOLYSIS OF THE CLAVICLE(HP:0000905), HYPOREFLEXIA(HP:0001265), PINCHED NOSE(HP:0000418), HYPOPLASTIC CLAVICLES(HP:0000898), DERMAL ATROPHY(HP:0004334), HETEROGENEOUS(HP:0001425), PERICARDIAL EFFUSION(HP:0001698), NORMAL OR INCREASED ADIPOSE TISSUE AROUND THE NECK(HP:0000468), LOSS OF SUBCUTANEOUS ADIPOSE TISSUE IN LIMBS(HP:0003635), PROMINENT SUPERFICIAL VEINS(HP:0001015), INCREASED SERUM TRIGLYCERIDES(HP:0003082), DECREASED SUBCUTANEOUS FAT(HP:0001002), ABSENCE OF SUBCUTANEOUS FAT(HP:0007485), HIRSUTISM(HP:0001007), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), HYPERGLYCEMIA(HP:0003074), LIPODYSTROPHY(HP:0009125), ADIPOSE TISSUE LOSS(HP:0008887), HYPERLIPIDEMIA(HP:0003077), MICROGNATHIA(HP:0000210), WORMIAN BONES(HP:0002645), XANTHOMATOSIS(HP:0000991), DECREASED NUMBER OF MYELINATED FIBERS MAY BE FOUND(HP:0003385), AXONAL ATROPHY ON NERVE BIOPSY(HP:0003384), SMALL 'ONION BULBS' MAY BE PRESENT(HP:0003389), ANGINA PECTORIS(HP:0001681), ONSET IN SECOND DECADE(HP:0003588), FOOT DROP(HP:0003377), VENTRICULAR ARRHYTHMIA(HP:0004308), 'STEPPAGE' GAIT(HP:0003376), AXONAL DEGENERATION/REGENERATION ON NERVE BIOPSY(HP:0003378), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
4001	LMNB1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMPOTENCE DUE TO AUTONOMIC DYSFUNCTION(HP:0008652), IMPOTENCE(HP:0000802), HYPERREFLEXIA(HP:0001347), CEREBELLAR ATAXIA(HP:0001253), DEMYELINATION, SYMMETRIC(HP:0007262), PROGRESSIVE DISORDER(HP:0003676), ORTHOSTATIC HYPOTENSION DUE TO AUTONOMIC DYSFUNCTION(HP:0004926), SPASTICITY(HP:0001257), ABNORMAL BLADDER REGULATION DUE TO AUTONOMIC DYSFUNCTION(HP:0005341), ONSET IN ADULTHOOD(HP:0003581), ABNORMALITY OF THE URINARY TRACT(HP:0000079), ABNORMALITY OF THE ABDOMEN(HP:0001438), LEUKOENCEPHALOPATHY, DIFFUSE(HP:0006994), DECREASED SWEATING DUE TO AUTONOMIC DYSFUNCTION(HP:0007480), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), DIAPHORESIS(HP:0001064), LEUKODYSTROPHY(HP:0002415), PSEUDOBULBAR PARALYSIS(HP:0007024), HYPERHIDROSIS(HP:0000975)]
4010	LMX1B	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ANTECUBITAL PTERYGIUM(HP:0009760), QUADRICEPS APLASIA(HP:0009788), KERATOCONUS(HP:0000563), TRICEPS APLASIA(HP:0009785), LESTER'S SIGN(HP:0009781), ILIAC HORNS(HP:0009780), BICEPS APLASIA(HP:0009783), DISLOCATION OF PATELLA(HP:0002999), HEMATURIA(HP:0000790), CATARACT(HP:0000518), LIMITED ELBOW EXTENSION(HP:0001377), APLASIA OF THE DISTAL INTERPHALANGEAL CREASES(HP:0001032), GLENOID HYPOPLASIA(HP:0006633), KOILONYCHIA(HP:0001598), RENAL FAILURE(HP:0000083), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), THICKENING OF THE LATERAL BORDER OF THE SCAPULA(HP:0006650), PROTEINURIA(HP:0000093), NEPHROTIC SYNDROME(HP:0000100), GLOMERULONEPHRITIS(HP:0000099), LONGITUDINAL RIDGING(HP:0001801), ANONYCHIA(HP:0001798), PES PLANUS(HP:0001763), TALIPES EQUINOVARUS(HP:0001762), DISPROPORTIONATE PROMINENCE OF THE FEMORAL MEDIAL CONDYLE(HP:0006437), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOPLASIA OF FIRST RIBS(HP:0006657), CLEFT PALATE(HP:0000175), ELONGATED RADIUS WITH HYPOPLASIA OF RADIAL HEAD(HP:0006424), CLEFT LIP(HP:0000204), APLASIA/HYPOPLASIA OF THE PATELLA(HP:0006498), DECREASED BODY HEIGHT(HP:0004322), PECTUS EXCAVATUM(HP:0000767), LUMBAR HYPERLORDOSIS(HP:0002938), PTOSIS(HP:0000508), ABSENCE OF PECTORALIS MINOR MUSCLE(HP:0005255), GLAUCOMA(HP:0000501), SPINA BIFIDA(HP:0002414), SCOLIOSIS(HP:0002650), MICROCORNEA(HP:0000482)]
4014	LOR	[AMNIOTIC BANDS(HP:0009775), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PALMOPLANTAR KERATODERMA(HP:0000982), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), ABNORMALITY OF THE NAILS(HP:0001597), ONSET IN INFANCY(HP:0003576)]
4015	LOX	[RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BLADDER DIVERTICULA(HP:0000015), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), INGUINAL HERNIA(HP:0000023), ABNORMALITY OF THE FACE(HP:0000271), EMPHYSEMA(HP:0002097), SUPRAVALVULAR AORTIC STENOSIS(HP:0004381), JOINT LAXITY(HP:0001388), DIAPHRAGMATIC HERNIA(HP:0000776), LOOSE, REDUNDANT SKIN(HP:0001582), VASCULAR TORTUOSITY(HP:0004948), PECTUS EXCAVATUM(HP:0000767), UMBILICAL HERNIA(HP:0001537), OLIGOHYDRAMNIOS(HP:0001562), ASCENDING AORTIC ANEURYSM(HP:0002631)]
4018	LPA	[ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
4023	LPL	[JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOCARDIAL INFARCTION(HP:0001658), NAUSEA(HP:0002018), XANTHELASMA(HP:0001114), PANCREATITIS(HP:0001733), LIPEMIA RETINALIS(HP:0000660), EPISODIC ABDOMINAL PAIN(HP:0002574), HYPOKINESIA(HP:0002375), HEPATOSPLENOMEGALY(HP:0001433), ERUPTIVE XANTHOMAS(HP:0001013), COMBINED HYPERLIPIDEMIA(HP:0008356), HYPERCHOLESTEROLEMIA(HP:0003124)]
4026	LPP	[FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
4036	LRP2	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), WIDE ANTERIOR FONTANEL(HP:0000260), BICORNUATE UTERUS(HP:0000813), HYPOPLASIA OF THE IRIS(HP:0007676), VISUAL LOSS(HP:0000572), SEVERE MYOPIA (> -6.00 DIOPTERS)(HP:0000569), CATARACT(HP:0000518), HYPERTELORISM(HP:0000316), VENTRICULAR SEPTAL DEFECT(HP:0001629), DETACHED RETINA(HP:0000541), PROMINENT EYES(HP:0000536), DIAPHRAGMATIC HERNIA(HP:0000776), IRIS COLOBOMA(HP:0000612), PROTEINURIA(HP:0000093), PARTIAL AGENESIS OF THE CORPUS CALLOSUM(HP:0001338), LOW-SET EARS(HP:0000369), UMBILICAL HERNIA(HP:0001537), OMPHALOCELE(HP:0001539), POSTERIORLY ROTATED EARS(HP:0000358), ABNORMALITY OF THE SKIN(HP:0000951), HEARING LOSS, SENSORINEURAL(HP:0000407), NASAL HYPOPLASIA(HP:0003196), DEVELOPMENTAL RETARDATION(HP:0001263), UNDERORBITAL SKIN CREASES(HP:0007796), FLATTENED NASAL BRIDGE(HP:0000425), NON-ACIDOTIC PROXIMAL TUBULOPATHY(HP:0005574), INTESTINAL MALROTATION(HP:0002566), PULMONARY HYPOPLASIA(HP:0002089), DIAPHRAGMATIC EVENTRATION(HP:0009110), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
4041	LRP5	[KYPHOSCOLIOSIS(HP:0002751), FALCIFORM RETINAL FOLDS(HP:0001493), VITREORETINAL ABNORMALITIES(HP:0007773), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VITREOUS DETACHMENT(HP:0001489), HEADACHE(HP:0002315), HEARING LOSS, SENSORINEURAL(HP:0000407), IRIS ATROPHY(HP:0001089), HEARING LOSS, CONDUCTIVE(HP:0000405), VITREOUS HEMORRHAGE(HP:0007902), OSTEOPOROSIS(HP:0000939), OSTEOPENIA(HP:0000938), THICKENED CORTEX OF LONG BONES(HP:0000935), DENTAL MALOCCLUSION(HP:0000689), MICROPHTHALMOS(HP:0000568), PLATYSPONDYLY(HP:0000926), MUSCULAR HYPOTONIA(HP:0001252), ABSENT ANTERIOR EYE CHAMBER(HP:0008037), METACARPAL DIAPHYSEAL ENDOSTEAL SCLEROSIS(HP:0006174), MENTAL RETARDATION, MILD(HP:0001256), SUBCAPSULAR CATARACTS(HP:0000523), VENTRICULAR SEPTAL DEFECT(HP:0001629), RETINAL EXUDATES(HP:0001147), PHTHISIS BULBI(HP:0000667), JOINT HYPERMOBILITY(HP:0001382), LOW BIRTH WEIGHT(HP:0001518), MANDIBULAR PROGNATHIA(HP:0000303), TRACTIONAL RETINAL DETACHMENT(HP:0007917), PREMATURE BIRTH(HP:0001622), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), HETEROGENEOUS(HP:0001425), BLINDNESS(HP:0000618), DECREASED BODY HEIGHT(HP:0004322), THICKENED CALVARIA(HP:0002684), MILD CLAVICULAR SCLEROSIS(HP:0006648), HORIZONTAL PENDULAR NYSTAGMUS(HP:0007811), OSTEOSCLEROSIS, DIFFUSE SYMMETRICAL(HP:0005789), PERIPHERAL RETINAL AVASCULARIZATION(HP:0007685), MILD VERTEBRAL BODY SCLEROSIS(HP:0004578), METAPHYSEAL WIDENING(HP:0003016), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF THE PELVIS(HP:0002644), ABSENCE OF PERMANENT TEETH(HP:0006349), MICROCEPHALY(HP:0000252), METATARSAL DIAPHYSEAL ENDOSTEAL SCLEROSIS(HP:0008114), BARREL-SHAPED CHEST(HP:0001552), PATHOLOGIC FRACTURE(HP:0002756), FLATTENED FOREHEAD(HP:0004425)]
4056	LTC4S	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
4066	LYL1	[AUTOSOMAL DOMINANT SOMATIC CELL MUTATION(HP:0001444), LYMPHOID LEUKEMIA(HP:0005526)]
4068	SH2D1A	[LYMPHADENOPATHY(HP:0002716), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), PANCYTOPENIA(HP:0001876), SPLENOMEGALY(HP:0001744), RESPIRATORY ABNORMALITY(HP:0002086), HEPATIC ENCEPHALOPATHY(HP:0002480), FULMINANT HEPATITIS(HP:0004787), ENCEPHALITIS(HP:0002383), X-LINKED RECESSIVE INHERITANCE(HP:0001419), LYMPHOMA(HP:0002665), HEPATOMEGALY(HP:0002240), MENINGITIS(HP:0001287), INCREASED IGM LEVEL(HP:0003496), COMBINED IMMUNODEFICIENCY(HP:0005387), DECREASED IGG LEVEL(HP:0004315)]
4069	LYZ	[GENERALIZED AMYLOID DEPOSITION(HP:0003216), HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE SKIN(HP:0000951), PROTEINURIA(HP:0000093), HEPATOMEGALY(HP:0002240), HEMATURIA(HP:0000790), NEPHROTIC SYNDROME(HP:0000100), CHOLESTASIS(HP:0001396), NEUROLOGICAL ABNORMALITY(HP:0000707), SPLENOMEGALY(HP:0001744), NEPHROPATHY(HP:0000112)]
4070	TACSTD2	[CORNEAL DYSTROPHY(HP:0001131), PHOTOPHOBIA(HP:0000613), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BLURRED VISION(HP:0000622), ONSET IN CHILDHOOD(HP:0003578)]
4089	SMAD4	[RECTAL PROLAPSE(HP:0002035), CLUBBING(HP:0001217), RECTAL BLEEDING(HP:0002609), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TELANGIECTASIA(HP:0001009), SUBARACHNOID HEMORRHAGE(HP:0002138), ANEMIA(HP:0001903), COLON CANCER(HP:0003003), HYPOALBUMINEMIA(HP:0003073), ABDOMINAL PAIN(HP:0002027), INTUSSUSCEPTION(HP:0002576), DIARRHEA(HP:0002014), CEREBRAL ARTERIOVENOUS MALFORMATION(HP:0002408), FAILURE TO THRIVE(HP:0001508), HYPOKALEMIA(HP:0002900), PULMONARY ARTERIOVENOUS MALFORMATION(HP:0006548), JUVENILE GASTROINTESTINAL POLYPOSIS(HP:0004784)]
4093	SMAD9	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RIGHT VENTRICULAR FAILURE(HP:0001708), THROMBOSIS(HP:0001977), ELEVATED RIGHT ATRIAL PRESSURE(HP:0005168), PULMONARY ARTERY VASOCONSTRICTION(HP:0005308), INCREASED PULMONARY VASCULAR RESISTANCE(HP:0005317), ARTERIES SHOW INTIMAL FIBROSIS(HP:0005312), METABOLISM ABNORMALITY(HP:0001939), RIGHT VENTRICULAR HYPERTROPHY(HP:0001667), ARTERIES SHOW MEDIAL HYPERTROPHY(HP:0004964), DYSPNEA(HP:0002094), PULMONARY HYPERTENSION(HP:0002092)]
4125	MAN2B1	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), COARSE FACIAL FEATURES(HP:0000280), EPICANTHUS(HP:0000286), BOWING OF THE LEGS(HP:0002979), MACROCEPHALY(HP:0000256), INGUINAL HERNIA(HP:0000023), THICK EYEBROWS(HP:0000574), HYPERREFLEXIA(HP:0001347), RECURRENT BACTERIAL INFECTIONS(HP:0002718), OCCIPITAL PLAGIOCEPHALY(HP:0005469), SPONDYLOLISTHESIS(HP:0003302), GENU VARUM(HP:0002970), PECTUS CARINATUM(HP:0000768), LOW FRONTAL HAIRLINE(HP:0000294), MANDIBULAR PROGNATHIA(HP:0000303), BROAD RIBS(HP:0000885), GENU VARUS(HP:0003052), BROAD FOREHEAD(HP:0000337), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), BABINSKI SIGN(HP:0003487), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), CORTICOSPINAL TRACT DISEASE IN LOWER LIMBS(HP:0007163), WIDELY SPACED TEETH(HP:0000687), GAIT ATAXIA(HP:0002066), IMPAIRED SMOOTH PURSUIT(HP:0007772), THORACOLUMBAR KYPHOSIS(HP:0005619), LIMB ATAXIA(HP:0002070), LARGE EARS(HP:0000400), HEARING LOSS, SENSORINEURAL(HP:0000407), DYSOSTOSIS MULTIPLEX(HP:0000943), MACROGLOSSIA(HP:0000158), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), SEVERE GROWTH RETARDATION(HP:0001521), DYSARTHRIA(HP:0001260), SPASTICITY(HP:0001257), SPLENOMEGALY(HP:0001744), RETINAL DEGENERATION, PROGRESSIVE(HP:0007790), SPINOCEREBELLAR TRACT DISEASE IN LOWER LIMBS(HP:0007232), CEREBELLAR ATROPHY(HP:0001272), GINGIVAL HYPERTROPHY(HP:0000195), THICKENED CALVARIA(HP:0002684), FLAT NOSE(HP:0000457), HYPERTRICHOSIS(HP:0000998), INCREASED VERTEBRAL HEIGHT(HP:0004570), REDUCED IMMUNOGLOBULIN LEVELS(HP:0004313), VACUOLATED LYMPHOCYTES(HP:0001922)]
4126	MANBA	[MINOR FACIAL DYSMORPHISM(HP:0004675), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), ANGIOKERATOMA(HP:0001014), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), HYPERACTIVITY(HP:0000752), DEMYELINATING PERIPHERAL NEUROPATHY, PROGRESSIVE(HP:0007205), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RECURRENT INFECTIONS(HP:0002719), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), METABOLISM ABNORMALITY(HP:0001939), MENTAL RETARDATION(HP:0001249), AGGRESSIVE BEHAVIOR(HP:0000718), TORTUOSITY OF CONJUNCTIVAL VESSELS(HP:0000503), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), INTEROSSEUS MUSCLE ATROPHY(HP:0007181)]
4128	MAOA	[ABNORMAL AGGRESSIVE, IMPULSIVE OR VIOLENT BEHAVIOR(HP:0006919), METABOLISM ABNORMALITY(HP:0001939), MENTAL RETARDATION, MILD(HP:0001256), X-LINKED INHERITANCE(HP:0001417)]
4129	MAOB	[METABOLISM ABNORMALITY(HP:0001939), X-LINKED INHERITANCE(HP:0001417)]
4137	MAPT	[KYPHOSCOLIOSIS(HP:0002751), BRADYKINESIA(HP:0002067), AKINESIA(HP:0002304), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOSMIA(HP:0004409), FRONTOLIMBIC DEMENTIA(HP:0002439), NEUROFIBRILLARY TANGLES(HP:0002185), HIGHLY VARIABLE PHENOTYPE(HP:0003815), LANGUAGE IMPAIRMENT(HP:0002463), LIMB DYSTONIA(HP:0002451), ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062), RIGIDITY(HP:0002063), INAPPROPRIATE SEXUAL BEHAVIOR(HP:0008768), PRIMITIVE REFLEXES (PALMOMENTAL, SNOUT, GLABELLAR)(HP:0002476), DIPLOPIA(HP:0000651), ONSET BEFORE AGE 2 YEARS(HP:0003667), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), POOR MOBILITY(HP:0002481), MASK-LIKE FACIES(HP:0000298), SOFT VOICE(HP:0001621), EYELID APRAXIA(HP:0000658), FORGETFULNESS(HP:0000747), LACK OF MOTIVATION(HP:0000745), HETEROGENEOUS(HP:0001425), PERSONALITY CHANGES(HP:0000751), PHOTOPHOBIA(HP:0000613), INAPPROPRIATE LAUGHTER(HP:0000748), GAIT IMBALANCE(HP:0002141), AMYOTROPHIC LATERAL SCLEROSIS(HP:0007354), IRRITABILITY(HP:0000737), FRONTAL RELEASE SIGNS(HP:0000743), BLURRED VISION(HP:0000622), APATHY(HP:0000741), PARKINSONISM(HP:0001300), FALLS(HP:0002527), ISOLATED CASES(HP:0001420), TREMOR(HP:0001337), MUTISM(HP:0002300), NEURONAL LOSS(HP:0002400), DEPRESSION(HP:0000716), METABOLISM ABNORMALITY(HP:0001939), NEUROPATHOLOGY SHOWS NEURONAL LOSS IN BASAL GANGLIA, BRAINSTEM, AND CEREBELLUM(HP:0002529), GLIOSIS(HP:0002171), GRANULOVACUOLAR DEGENERATION(HP:0002528), AXIAL DYSTONIA(HP:0002530), HYPERORALITY(HP:0000710), EARLY ONSET(HP:0003593), STEREOTYPED, REPETITIVE BEHAVIOUR(HP:0000733), DISINHIBITION(HP:0000734), FRONTOTEMPORAL DEMENTIA(HP:0002145), RETROCOLLIS(HP:0002544), SUPRANUCLEAR GAZE PALSY(HP:0000605), HYPERPHAGIA(HP:0000724), ONSET IN THIRD DECADE(HP:0003585), SHORT STEPPED SHUFFLING GAIT(HP:0007311), FRONTAL LOBE DEMENTIA(HP:0000727)]
4143	MAT1A	[MENTAL RETARDATION(HP:0001249), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DYSTONIA(HP:0001332), HYPERMETHIONINEMIA(HP:0003235), ABNORMALITY OF THE MOUTH(HP:0000153), DEMYELINATION(HP:0003381), HYPERREFLEXIA(HP:0001347)]
4148	MATN3	[DELAYED MATURATION/DELAYED OSSIFICATION OF CARPAL BONES(HP:0001216), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GENU VALGUM(HP:0002857), BOWING OF THE LEGS(HP:0002979), NARROW ILIAC WINGS(HP:0002868), WIDE METAPHYSES WITH LATERAL SPURS(HP:0005054), POSTERIOR RIB CUPPING(HP:0000922), ARTHRALGIA(HP:0002829), SHORT, WIDE FEMORAL NECK(HP:0008781), FLAT ACETABULAR ROOFS(HP:0003180), DYSPLASTIC ILIAC WINGS(HP:0008794), HYPOPLASTIC PUBIC BONES(HP:0003173), LIMITED ELBOW EXTENSION(HP:0001377), HETEROGENEOUS(HP:0001425), COXA VARA(HP:0002812), EPIPHYSEAL DYSPLASIA(HP:0002656), MILD METAPHYSEAL IRREGULARITIES(HP:0005065), SMALL CHEST(HP:0001590), LUMBAR HYPERLORDOSIS(HP:0002938), WADDLING GAIT(HP:0002515), DELAYED TARSAL OSSIFICATION(HP:0008103), SMALL PROXIMAL FEMORAL EPIPHYSES(HP:0003374), SPONDYLOEPIMETAPHYSEAL DYSPLASIA(HP:0002651), ARTHRALGIA (HIP)(HP:0003365), MULTIPLE EPIPHYSEAL DYSPLASIA(HP:0002654), SHORT LIMB DWARFISM(HP:0003505), FLAT OVAL-SHAPED VERTEBRAL BODIES(HP:0004559), SMALL, IRREGULAR EPIPHYSES(HP:0003039), SHORT LONG BONES(HP:0003026), OSTEOARTHRITIS(HP:0002758)]
4158	MC2R	[HYPERPIGMENTATION(HP:0000953), ACCELERATED SKELETAL MATURATION(HP:0005616), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELEVATED PLASMA ACTH(HP:0003154), PREDISPOSITION TO SEVERE INFECTIONS(HP:0002957), PLASMA CORTISOL LOW(HP:0008163), INCREASED BODY HEIGHT(HP:0000098), SEIZURES(HP:0001250), COMA(HP:0001259), FAILURE TO THRIVE(HP:0001508), RECURRENT HYPOGLYCEMIC EPISODES(HP:0001988)]
4160	MC4R	[METABOLISM ABNORMALITY(HP:0001939), OBESITY(HP:0001513)]
4166	CHST6	[METABOLISM ABNORMALITY(HP:0001939), PHOTOPHOBIA(HP:0000613), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MINUTE, GRAY, PUNCTATE CORNEAL OPACITIES(HP:0008004), ONSET IN FIRST DECADE(HP:0003582)]
4168	MCF2	[METABOLISM ABNORMALITY(HP:0001939), X-LINKED INHERITANCE(HP:0001417), NEOPLASIA(HP:0002664)]
4170	MCL1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYELOID CELL LEUKEMIA 1(HP:0005519)]
4175	MCM6	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LACTOSE INTOLERANCE(HP:0004789), DIARRHEA(HP:0002014)]
4204	MECP2	[MALAR HYPOPLASIA(HP:0000272), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MICROCEPHALY, POSTNATAL(HP:0005484), MENTAL RETARDATION, PROFOUND(HP:0002187), LACK OF LANGUAGE DEVELOPMENT(HP:0006798), MACROCEPHALY(HP:0000256), HIGHLY VARIABLE PHENOTYPE(HP:0003815), SPASTICITY, PROGRESSIVE(HP:0002191), INTERMITTENT HYPERVENTILATION(HP:0004879), HYPERREFLEXIA(HP:0001347), CRYPTORCHIDISM(HP:0000028), OCCIPITAL PLAGIOCEPHALY(HP:0005469), PROLONGED QTC INTERVAL(HP:0005184), MACROORCHIDISM(HP:0000053), ABSENT SPEECH(HP:0001617), FACIAL HYPOTONIA(HP:0000297), MILD CORTICAL ATROPHY ON CT OR MRI(HP:0006823), ONSET AT BIRTH(HP:0003577), BLOND HAIR(HP:0002214), MANDIBULAR PROGNATHIA(HP:0000303), KYPHOSIS(HP:0002808), BRUXISM(HP:0003763), ENCEPHALOPATHY(HP:0001298), CENTRAL HYPOVENTILATION(HP:0007110), MICROBRACHYCEPHALY(HP:0002258), PARKINSONISM(HP:0001300), HYPOPLASIA OF THE MAXILLA(HP:0000327), AMYOTROPHY(HP:0003202), BLUE IRIDES(HP:0000635), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), TREMOR(HP:0001337), MYOCLONUS(HP:0001336), LOW-SET EARS(HP:0000369), T-WAVE ABNORMALITIES(HP:0005135), RESPIRATORY ARREST(HP:0005943), DYSTONIA(HP:0001332), WIDELY SPACED TEETH(HP:0000687), MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), SPASTIC GAIT(HP:0002064), DROOLING(HP:0002307), PES CAVUS(HP:0001761), GAIT ATAXIA(HP:0002066), SMALL FEET(HP:0001764), LARGE EARS(HP:0000400), CLUMSINESS(HP:0002312), TRUNCAL ATAXIA(HP:0002078), CONSTIPATION(HP:0002019), HIGH-ARCHED PALATE(HP:0000156), GASTROESOPHAGEAL REFLUX(HP:0002020), MACROGLOSSIA(HP:0000158), FEEDING DIFFICULTIES(HP:0002022), INFANTILE MUSCULAR HYPOTONIA(HP:0008947), MOTOR DETERIORATION(HP:0002333), SLOW PROGRESSION(HP:0003677), SEIZURES(HP:0001250), PROGRESSIVE DISORDER(HP:0003676), APNEA(HP:0002104), MICROSTOMIA(HP:0000160), DYSPHAGIA(HP:0002015), EEG ABNORMALITIES(HP:0002353), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), CHOREOATHETOSIS(HP:0001266), PROGRESSIVE GAIT ATAXIA(HP:0007240), HYPERTONIA(HP:0001276), SHUFFLING GAIT(HP:0002362), OBESITY(HP:0001513), MACROSTOMIA(HP:0000181), SLEEP-WAKE CYCLE DISTURBANCE(HP:0006979), PAROXYSMAL BURSTS OF LAUGHTER(HP:0000749), DELAYED MOTOR MILESTONES(HP:0002130), SHORT NECK(HP:0000470), CACHEXIA(HP:0004326), HYPOPIGMENTATION OF THE SKIN(HP:0001010), DECREASED BODY HEIGHT(HP:0004322), BROAD-BASED GAIT(HP:0002136), SPEECH DELAY(HP:0002117), X-LINKED RECESSIVE INHERITANCE(HP:0001419), POLYMICROGYRIA(HP:0002126), HYPERACTIVITY(HP:0000752), X-LINKED DOMINANT INHERITANCE(HP:0001423), MICROGNATHIA(HP:0000210), ISOLATED CASES(HP:0001420), METABOLISM ABNORMALITY(HP:0001939), SCOLIOSIS(HP:0002650), PSYCHOSIS(HP:0000709), MICROCEPHALY, PROGRESSIVE(HP:0000253), EARLY ONSET(HP:0003593), DEEP SET EYES(HP:0000490), STRABISMUS(HP:0000486), DECELERATION OF HEAD GROWTH(HP:0000241)]
4210	MEFV	[RENAL AMYLOIDOSIS(HP:0001917), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABDOMINAL PAIN(HP:0002027), PLEURITIS(HP:0002102), ELEVATED ERYTHROCYTE SEDIMENTATION RATE(HP:0003565), ARTHRALGIA(HP:0002829), PERITONITIS(HP:0002586), SPLENOMEGALY(HP:0001744), ONSET IN CHILDHOOD OR ADOLESCENCE(HP:0003661), POLYARTICULAR ARTHRITIS(HP:0005764), LEUKOCYTOSIS(HP:0001974), PERICARDITIS(HP:0001701), ERYSIPELAS(HP:0001055), RENAL FAILURE(HP:0000083), FEVER, EPISODIC(HP:0001954), PROTEINURIA(HP:0000093), HEPATOMEGALY(HP:0002240), MENINGITIS(HP:0001287), NEPHROTIC SYNDROME(HP:0000100)]
4221	MEN1	[ABNORMALITY OF THE THYROID GLAND(HP:0000820), PANCREATIC ISLET CELL ADENOMA(HP:0008261), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ADRENOCORTICAL ADENOMA(HP:0008256), PRIMARY HYPERPARATHYROIDISM(HP:0008200), ZOLLINGER-ELLISON SYNDROME(HP:0002044), SUBCUTANEOUS LIPOMAS(HP:0001031), HYPERCALCEMIA(HP:0003072), CUSHING SYNDROME(HP:0000850), HYPOGLYCEMIA(HP:0001943), DIARRHEA(HP:0002014), ADENOMA SEBACEUM(HP:0009720), PARATHYROID ADENOMA(HP:0002897), CONFETTI-LIKE HYPOPIGMENTED MACULES(HP:0007449), PROLACTIN-SECRETING PITUITARY ADENOMA(HP:0006767), ACROMEGALY(HP:0000845)]
4233	MET	[HETEROGENEOUS(HP:0001425), SUBACUTE PROGRESSIVE VIRAL HEPATITIS(HP:0006572), METABOLISM ABNORMALITY(HP:0001939), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEPATOCELLULAR CARCINOMA(HP:0001402), MICRONODULAR CIRRHOSIS(HP:0001413)]
4247	MGAT2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MACROCEPHALY(HP:0000256), VENTRICULAR SEPTAL DEFECT(HP:0001629), GENERALIZED HYPOTONIA(HP:0001290), GRACILE LONG BONES(HP:0003061), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), PES PLANUS(HP:0001763), ABNORMAL ISOELECTRIC FOCUSING OF SERUM TRANSFERRIN(HP:0003160), PROXIMALLY PLACED THUMB(HP:0009623), LARGE, DYSPLASTIC EARS(HP:0000401), THORACOLUMBAR KYPHOSCOLIOSIS(HP:0003423), OSTEOPENIA(HP:0000938), SEIZURES(HP:0001250), ABNORMALITY OF THE TEETH(HP:0000164), FAILURE TO THRIVE(HP:0001508), COXA VALGA(HP:0002673), MIDFRONTAL CAPILLARY HEMANGIOMA(HP:0007466), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), ANTITHROMBIN III DEFICIENCY(HP:0001976), GINGIVAL HYPERTROPHY(HP:0000195), PECTUS EXCAVATUM(HP:0000767), THIN LIPS(HP:0000213), STEREOTYPED, REPETITIVE BEHAVIOUR(HP:0000733), DECREASED COAGULATION FACTORS IX, XI, XII(HP:0005514)]
4254	KITLG	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPERPIGMENTED SKIN PATCHES(HP:0007492), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), HYPERKERATOSIS(HP:0000962), ONSET AT BIRTH(HP:0003577), FAMILIAL PROGRESSIVE HYPERPIGMENTATION(HP:0007505)]
4256	MGP	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LONG FACE(HP:0000276), HYPOPLASTIC/SMALL THUMB(HP:0009778), NASAL SPEECH(HP:0001611), MUSCLE STIFFNESS(HP:0003552), PROGRESSIVE CARTILAGINOUS OSSIFICATION OF PINNAE(HP:0008549), VENTRICULAR SEPTAL DEFECT(HP:0001629), HYPOPLASTIC/SMALL HALLUX(HP:0010109), CARTILAGINOUS OSSIFICATION OF LARYNX(HP:0008747), PERIPHERAL PULMONARY STENOSIS(HP:0004957), STIPPLING OF THE EPIPHYSES(HP:0010655), RECURRENT BRONCHITIS(HP:0002785), CEREBRAL CALCIFICATION(HP:0002514), LARGE, PROMINENT EARS(HP:0000382), PULMONARY ARTERY HYPOPLASIA(HP:0004971), MIXED HEARING LOSS(HP:0000410), RECURRENT OTITIS MEDIA(HP:0000403), CARTILAGINOUS OSSIFICATION OF RIB(HP:0006662), DEEP PHILTRUM(HP:0002002), SEIZURES(HP:0001250), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), PREMATURE FUSION OF PHALANGEAL EPIPHYSES(HP:0006140), MENTAL RETARDATION, MILD(HP:0001256), FLATTENED NASAL BRIDGE(HP:0000425), GROWTH ABNORMALITY(HP:0001507), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), INCREASED RISK OF SPONTANEOUS ABORTION(HP:0005268), CARTILAGINOUS OSSIFICATION OF NOSE(HP:0005275)]
4261	CIITA	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RECURRENT URINARY TRACT INFECTIONS(HP:0000010), VIRAL HEPATITIS(HP:0006562), CHRONIC LYMPHOCYTIC MENINGITIS(HP:0007041), PROTRACTED DIARRHEA(HP:0004385), CHRONIC MUCOCUTANEOUS CANDIDIASIS(HP:0002728), MALABSORPTION(HP:0002024), PANHYPOGAMMAGLOBULINEMIA(HP:0003139), SEVERE COLITIS(HP:0002583), NEUTROPENIA(HP:0001875), FAILURE TO THRIVE(HP:0001508), LACK OF DELAYED SKIN HYPERSENSITIVITY REACTION(HP:0005427), RECURRENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0002788), RECURRENT LOWER RESPIRATORY TRACT INFECTIONS(HP:0002783), FREQUENT BACTERIAL, VIRAL, PROTOZOAN, AND FUNGAL INFECTIONS(HP:0005386), BILIARY TRACT ABNORMALITY(HP:0001080)]
4281	MID1	[HIGH-ARCHED PALATE(HP:0000156), GASTROESOPHAGEAL REFLUX(HP:0002020), ANAL ATRESIA(HP:0002023), CRYPTORCHIDISM(HP:0000028), CLEFT PALATE(HP:0000175), FRONTAL BOSSING(HP:0002007), DEVELOPMENTAL RETARDATION(HP:0001263), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), HYPERTELORISM(HP:0000316), HYPOSPADIAS(HP:0000047), DYSPHAGIA(HP:0002015), FLAT PHILTRUM(HP:0000319), CARDIAC MALFORMATION(HP:0002564), ASPIRATION(HP:0002835), BROAD NASAL BRIDGE(HP:0000431), AGENESIS OF CORPUS CALLOSUM(HP:0001274), CLEFT LIP(HP:0000204), HETEROGENEOUS(HP:0001425), WIDOW'S PEAK(HP:0000349), NARES, ANTEVERTED(HP:0000463), THIN UPPER LIP(HP:0000219), X-LINKED RECESSIVE INHERITANCE(HP:0001419), TELECANTHUS(HP:0000506), POSTERIOR PHARYNGEAL CLEFT(HP:0006783)]
4286	MITF	[HETEROCHROMIA IRIDIS(HP:0001100), WHITE EYEBROWS AND EYELASHES(HP:0004536), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEARING LOSS, SENSORINEURAL, BILATERAL PROFOUND CONGENITAL(HP:0008540), OPTIC NERVE DYSPLASIA(HP:0001093), DEAFNESS(HP:0000404), HYPOPIGMENTED FUNDI(HP:0001487), FOVEAL HYPOPLASIA(HP:0007750), PREMATURE GRAYING OF HAIR(HP:0002216), SYNOPHRYS(HP:0000664), BROAD NASAL BRIDGE(HP:0000431), HYPOPLASTIC NASAL ALAE(HP:0000430), WHITE FORELOCK(HP:0002211), HYPERMETROPIA(HP:0000540), VESTIBULAR HYPOFUNCTION(HP:0001756), PHOTOPHOBIA(HP:0000613), ABNORMALITY OF THE ABDOMEN(HP:0001438), BLUE IRIDES(HP:0000635), NYSTAGMUS(HP:0000639), CONGENITAL PARTIAL ALBINISM (LEUCODERMA) ON FACE, TRUNK, OR LIMBS(HP:0001044), FAIR SKIN(HP:0000984), METABOLISM ABNORMALITY(HP:0001939), IMPAIRED VISION(HP:0000505), CONGENITAL SENSORINEURAL DEAFNESS(HP:0008620), HYPOPLASTIC IRIS STROMA(HP:0007990), STRABISMUS(HP:0000486)]
4287	ATXN3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EXTERNAL OPHTHALMOPLEGIA(HP:0000544), SPHINCTER DISTURBANCE(HP:0000018), PROPTOSIS(HP:0000520), FASCICULATION-LIKE MOVEMENTS(HP:0002468), IMPAIRED HORIZONTAL SMOOTH PURSUIT(HP:0001151), IMPAIRED VIBRATORY SENSE(HP:0002495), FACIAL-LINGUAL FASCICULATIONS(HP:0007089), SPINOCEREBELLAR TRACT DEGENERATION(HP:0002503), SUPRANUCLEAR OPHTHALMOPLEGIA(HP:0000623), PARKINSONISM(HP:0001300), BABINSKI SIGN(HP:0003487), GENETIC ANTICIPATION(HP:0003743), DYSTONIA(HP:0001332), BRADYKINESIA(HP:0002067), EXTRAPYRAMIDAL SIGNS(HP:0002071), LIMB ATAXIA(HP:0002070), PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073), TRUNCAL ATAXIA(HP:0002078), DISTAL AMYOTROPHY(HP:0003693), RIGIDITY(HP:0002063), PROGRESSIVE DISORDER(HP:0003676), DIPLOPIA(HP:0000651), EXOPHTHALMOS(HP:0000645), DYSARTHRIA(HP:0001260), DYSMETRIC SACCADES(HP:0000641), DYSPHAGIA(HP:0002015), GAZE-EVOKED NYSTAGMUS(HP:0000640), SPASTICITY(HP:0001257), SPHINCTER DISTURBANCES (BLADDER)(HP:0002839), ENLARGED FOURTH VENTRICLE, MILD(HP:0007223), AUTONOMIC DYSFUNCTION(HP:0002387), CEREBELLAR ATROPHY, MILD(HP:0007203), PTOSIS(HP:0000508), POSTURAL INSTABILITY(HP:0002172), GLIOSIS(HP:0002171), DECREASED OR ABSENT ANKLE REFLEXES(HP:0007032), DEMENTIA(HP:0000726)]
4291	MLF1	[FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
4292	MLH1	[CAFE-AU-LAIT SPOTS(HP:0000957), HYPERPIGMENTED MACULES(HP:0001034), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LEUKEMIA(HP:0001909), MALIGNANT GASTROINTESTINAL TRACT TUMORS(HP:0006749), COLON DIVERTICULA(HP:0002253), NEUROBLASTOMA(HP:0003006), BREAST CANCER(HP:0003002), COLON CANCER(HP:0003003), LYMPHOMA(HP:0002665), AXILLARY FRECKLING(HP:0000997), BASAL CELL CARCINOMA(HP:0002671), DUODENAL CARCINOMA(HP:0006771), MEDULLOBLASTOMA(HP:0002885), ASTROCYTOMA(HP:0009592), BENIGN GENITOURINARY TRACT TUMORS(HP:0006778), BENIGN GASTROINTESTINAL TRACT TUMORS(HP:0006719), EPENDYMOMA(HP:0002888), MALIGNANT GENITOURINARY TRACT TUMORS(HP:0006758)]
4297	MLL	[ACUTE MYELOID LEUKEMIA(HP:0004808), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ACUTE MONOCYTIC LEUKEMIA(HP:0004845), MYELOID/LYMPHOID LEUKEMIA(HP:0005531), ACUTE LYMPHATIC LEUKEMIA(HP:0006721), ACUTE MYELOMONOCYTIC LEUKEMIA(HP:0004820)]
4298	MLLT1	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
4299	AFF1	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
4300	MLLT3	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
4303	FOXO4	[METABOLISM ABNORMALITY(HP:0001939), X-LINKED INHERITANCE(HP:0001417), NEOPLASIA(HP:0002664)]
4313	MMP2	[KYPHOSCOLIOSIS(HP:0002751), JOINT CONTRACTURES(HP:0001372), DISTAL TAPERING OF METATARSALS(HP:0008133), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), COARSE FACIAL FEATURES(HP:0000280), DIFFUSELY THICKENED SKIN(HP:0007393), HIP CONTRACTURES(HP:0003273), WIDENED METACARPAL SHAFT(HP:0006012), VERTEBRAL COMPRESSION FRACTURES(HP:0002953), PROPTOSIS(HP:0000520), HYPERTELORISM(HP:0000316), C1-C2 SUBLUXATION(HP:0003320), TARSAL OSTEOLYSIS(HP:0001858), ONSET IN EARLY CHILDHOOD(HP:0003580), SCLEROTIC CRANIAL SUTURES(HP:0005441), THIN METATARSAL CORTICES(HP:0008078), ARTHROPATHY(HP:0003040), CAMPTODACTYLY (FEET)(HP:0001836), HYPOPLASIA OF THE MAXILLA(HP:0000327), GAIT DISTURBANCE(HP:0001288), OSTEOLYSIS(HP:0002797), ANKYLOSIS OF FEET SMALL JOINTS(HP:0008090), METAPHYSEAL WIDENING(HP:0003016), ANTINUCLEAR ANTIBODY POSITIVE(HP:0003493), WIDENED METATARSAL SHAFT(HP:0008106), ABNORMALITY OF THE EARS(HP:0000598), PERIPHERAL CORNEAL OPACITIES(HP:0008011), PES PLANUS(HP:0001763), INTERPHALANGEAL JOINT CONTRACTURES(HP:0001220), CARPAL OSTEOLYSIS(HP:0001495), PES CAVUS(HP:0001761), DELAYED DENTITION(HP:0000684), BULBOUS NOSE(HP:0000414), DELAYED CLOSURE OF THE ANTERIOR FONTANELLE(HP:0001476), WRIST CONTRACTURES(HP:0001239), THIN METACARPAL CORTICES(HP:0006086), OSTEOLYSIS INVOLVING METATARSAL BONES(HP:0001473), OSTEOPOROSIS(HP:0000939), OSTEOPENIA(HP:0000938), DISTAL AMYOTROPHY(HP:0003693), SUBCUTANEOUS NODULES(HP:0001482), FRONTAL BOSSING(HP:0002007), NARROW NASAL BRIDGE(HP:0000446), ARTHRALGIA(HP:0002829), METACARPAL OSTEOLYSIS(HP:0001504), PROTRUSIO ACETABULI(HP:0003179), DECREASED BODY HEIGHT(HP:0004322), GINGIVAL HYPERTROPHY(HP:0000195), ECTRODACTYLY (HANDS)(HP:0001171), HIRSUTISM(HP:0001007), ABNORMALITY OF THE THORAX(HP:0000765), INTERPHALANGEAL JOINT EROSIONS(HP:0006252), MICROGNATHIA(HP:0000210), HYPERTRICHOSIS(HP:0000998), CONTRACTURES OF THE ANKLES(HP:0006466), BRACHYCEPHALY(HP:0000248), HYPERPIGMENTED ERYTHEMATOUS LESIONS(HP:0007442), ONSET IN EARLY INFANCY(HP:0003591)]
4322	MMP13	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RADIAL BOWING(HP:0002986), FEMORAL BOWING(HP:0002980), TIBIAL BOWING(HP:0002982), FLARED ILIAC WINGS(HP:0002869), SMALL, FLATTENED EPIPHYSES(HP:0005051), GENU VARUM(HP:0002970), RHIZOMELIC SHORTENING(HP:0002968), GROWTH ABNORMALITY(HP:0001507), LIMITED ELBOW EXTENSION(HP:0001377), COXA VARA(HP:0002812), IRREGULAR SCLEROTIC ENDPLATES(HP:0008476), MILD PLATYSPONDYLY(HP:0002940), WADDLING GAIT(HP:0002515), FLARED, IRREGULAR RIB ENDS(HP:0006603), METAPHYSEAL CUPPING(HP:0003021), PEAR-SHAPED VERTEBRAE(HP:0004566), SPONDYLOEPIMETAPHYSEAL DYSPLASIA(HP:0002651), METAPHYSEAL FLARING(HP:0003015), ULNAR BOWING(HP:0003031), OSTEOARTHRITIS(HP:0002758)]
4330	MN1	[ABNORMALITY OF THE CHROMOSOMES(HP:0002916), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MENINGIOMA(HP:0002858)]
4337	MOCS1	[INCREASED URINARY SULFITE, THIOSULFATE, S-SULFOCYSTEINE, TAURINE, HYPOXANTHINE, AND XANTHINE(HP:0003166), SULFITE OXIDASE DEFICIENCY(HP:0003643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), XANTHINE DEHYDROGENASE DEFICIENCY(HP:0003534), URINARY XANTHINE STONES(HP:0000804), ABNORMAL MUSCLE TONE(HP:0003808), DECREASED URINARY SULFATE AND URATE(HP:0003359), ALDEHYDE OXIDASE DEFICIENCY(HP:0002932), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL ATROPHY(HP:0002059), SPASTIC TETRAPARESIS(HP:0001285), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), ABSENT URINARY UROTHIONE(HP:0003606), MYOCLONIC SPASMS(HP:0003739), LENS DISLOCATION(HP:0000665), MOLYBDENUM COFACTOR DEFICIENCY(HP:0003570)]
4338	MOCS2	[INCREASED URINARY SULFITE, THIOSULFATE, S-SULFOCYSTEINE, TAURINE, HYPOXANTHINE, AND XANTHINE(HP:0003166), SULFITE OXIDASE DEFICIENCY(HP:0003643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), XANTHINE DEHYDROGENASE DEFICIENCY(HP:0003534), URINARY XANTHINE STONES(HP:0000804), ABNORMAL MUSCLE TONE(HP:0003808), DECREASED URINARY SULFATE AND URATE(HP:0003359), ALDEHYDE OXIDASE DEFICIENCY(HP:0002932), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL ATROPHY(HP:0002059), SPASTIC TETRAPARESIS(HP:0001285), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), ABSENT URINARY UROTHIONE(HP:0003606), MYOCLONIC SPASMS(HP:0003739), LENS DISLOCATION(HP:0000665), MOLYBDENUM COFACTOR DEFICIENCY(HP:0003570)]
4342	MOS	[ACUTE MYELOID LEUKEMIA(HP:0004808), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
4351	MPI	[ABNORMAL ISOELECTRIC FOCUSING OF SERUM TRANSFERRIN (TYPE 1 PATTERN)(HP:0003642), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERINSULINEMIC HYPOGLYCEMIA(HP:0000825), ANTITHROMBIN III DEFICIENCY(HP:0001976), THROMBOSIS(HP:0001977), HYPOALBUMINEMIA(HP:0003073), HEPATOMEGALY(HP:0002240), PROTEIN-LOSING ENTEROPATHY(HP:0002243), MUSCULAR HYPOTONIA(HP:0001252), HEPATIC FAILURE(HP:0001399), DIARRHEA(HP:0002014), HEPATIC FIBROSIS(HP:0001395), CIRRHOSIS(HP:0001394), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), FACTOR XI DEFICIENCY(HP:0001929)]
4352	MPL	[HYPERTENSION(HP:0000822), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMAL PLATELET AGGREGATION(HP:0003540), MYELOPROLIFERATIVE DISORDER(HP:0005547), MEGAKARYOCYTOPENIA(HP:0005548), THROMBOCYTOSIS(HP:0001894), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), SEVERE THROMBOCYTOPENIA(HP:0004838), ACROCYANOSIS(HP:0001063), PANCYTOPENIA(HP:0001876), CEREBELLAR VERMIS HYPOPLASIA(HP:0001320), AMEGAKARYOCYTIC THROMBOCYTOPENIA(HP:0004859), MILD SPLENOMEGALY(HP:0001745)]
4353	MPO	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IMMUNOLOGICAL ABNORMALITY(HP:0002715)]
4358	MPV17	[DISCONJUGATE EYE MOVEMENTS(HP:0000549), JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOTHERMIA(HP:0002045), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL ATROPHY(HP:0002059), LIVER TISSUE SHOWS 80 TO 99% DEPLETION OF MITOCHONDRIAL DNA(HP:0006581), HYPERREFLEXIA(HP:0001347), PERIPORTAL FIBROSIS(HP:0001405), HEPATOCELLULAR NECROSIS(HP:0001404), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), HEPATIC STEATOSIS(HP:0001397), HEPATIC FAILURE(HP:0001399), THROMBOCYTOPENIA(HP:0001873), VOMITING(HP:0002013), SPLENOMEGALY(HP:0001744), POLYNEUROPATHY(HP:0001271), FAILURE TO THRIVE(HP:0001508), HYPOKINESIA(HP:0002375), MITOCHONDRIAL INHERITANCE(HP:0001427), ENCEPHALOPATHY(HP:0001298), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), PORTAL HYPERTENSION(HP:0001409), MICRONODULAR CIRRHOSIS(HP:0001413), HYPOALBUMINEMIA(HP:0003073), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), ASCITES(HP:0001541), MICROCEPHALY(HP:0000252), COAGULOPATHY(HP:0001925), DECREASED ACTIVITIES OF MITOCHONDRIAL-ENCODED RESPIRATORY CHAIN COMPLEXES(HP:0008972), HYPERBILIRUBINEMIA(HP:0002904), GENERALIZED AMINOACIDURIA(HP:0002909)]
4359	MPZ	[KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE SEVERITY(HP:0003814), IMMUNOLOGICAL ABNORMALITY(HP:0002715), ONSET IN EARLY CHILDHOOD(HP:0003580), ONSET AT BIRTH(HP:0003577), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), UPPER LIMB POSTURAL TREMOR(HP:0007351), SEGMENTAL DEMYELINATION(HP:0007107), CRANIAL NERVE INVOLVEMENT(HP:0003480), AREFLEXIA(HP:0001284), UPPER LIMB INVOLVEMENT MAY OCCUR LATER(HP:0003484), SEVERELY DECREASED MOTOR NERVE CONDUCTION VELOCITY(HP:0006907), NEONATAL HYPOTONIA(HP:0001319), NEUROPATHY(HP:0003407), HEARING LOSS, SENSORINEURAL, PROGRESSIVE(HP:0000408), PES CAVUS(HP:0001761), GAIT ATAXIA(HP:0002066), HAMMER TOES(HP:0001765), DEAFNESS(HP:0000404), DISTAL AMYOTROPHY(HP:0003693), ARTHROGRYPOSIS MULTIPLEX CONGENITA MAY OCCUR(HP:0005859), SLOW PROGRESSION(HP:0003677), MYELIN OUTFOLDINGS MAY OCCUR IN A SUBSET OF PATIENTS(HP:0003433), DYSPHAGIA(HP:0002015), SEGMENTAL DEMYELINATION/REMYELINATION ON NERVE BIOPSY(HP:0003425), MOTOR RETARDATION(HP:0001270), COLD-INDUCED MUSCLE CRAMPS(HP:0003449), HYPOREFLEXIA(HP:0001265), RESPIRATORY INSUFFICIENCY(HP:0002093), ABNORMALITY OF THE EYES(HP:0000478), HETEROGENEOUS(HP:0001425), INCREASED CSF PROTEIN(HP:0002922), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV) (LESS THAN 38 M/S)(HP:0000760), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), CLAW HAND DEFORMITIES (IN SEVERE CASES)(HP:0001178), SEVERE HYPOMYELINATION ON NERVE BIOPSY(HP:0007012), FOOT DROP(HP:0003377), ONSET IN FIRST OR SECOND DECADE(HP:0003589), 'STEPPAGE' GAIT(HP:0003376), AXONAL DEGENERATION/REGENERATION ON NERVE BIOPSY(HP:0003378), DECREASED NUMBER OF MYELINATED FIBERS(HP:0003380), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383), INSIDIOUS ONSET(HP:0003587), HYPERTROPHIC NERVE CHANGES(HP:0003382)]
4436	MSH2	[CAFE-AU-LAIT SPOTS(HP:0000957), HYPERPIGMENTED MACULES(HP:0001034), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LEUKEMIA(HP:0001909), MALIGNANT GASTROINTESTINAL TRACT TUMORS(HP:0006749), COLON DIVERTICULA(HP:0002253), NEUROBLASTOMA(HP:0003006), BREAST CANCER(HP:0003002), COLON CANCER(HP:0003003), LYMPHOMA(HP:0002665), AXILLARY FRECKLING(HP:0000997), BASAL CELL CARCINOMA(HP:0002671), DUODENAL CARCINOMA(HP:0006771), MEDULLOBLASTOMA(HP:0002885), ASTROCYTOMA(HP:0009592), BENIGN GENITOURINARY TRACT TUMORS(HP:0006778), BENIGN GASTROINTESTINAL TRACT TUMORS(HP:0006719), EPENDYMOMA(HP:0002888), MALIGNANT GENITOURINARY TRACT TUMORS(HP:0006758)]
4481	MSR1	[EARLY ONSET(HP:0003593), NEOPLASIA(HP:0002664)]
4487	MSX1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), THIN HAIR(HP:0002237), SMALL NAILS(HP:0001813), ABNORMALITY OF THE SKIN(HP:0000951), SPARSE, FINE HAIR(HP:0002291), HYPODONTIA(HP:0000668), KOILONYCHIA(HP:0001598), NAIL PITTING(HP:0001803), PARTIAL TO TOTAL ABSENCE OF PERMANENT TEETH(HP:0006287), LONGITUDINAL RIDGING(HP:0001801), MICRODONTIA(HP:0000691)]
4488	MSX2	[CLEFT LIP(HP:0000204), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEADACHE(HP:0002315), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), APLASIA CUTIS CONGENITA OF SCALP(HP:0007385), CRANIUM BIFIDUM OCCULTUM(HP:0004423), PARIETAL FORAMINA(HP:0002697), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), SYMMETRICAL, OVAL PARIETAL BONE DEFECTS(HP:0002695), PARIETAL BOSSING(HP:0000242), HYPOPLASTIC CLAVICLES(HP:0000898)]
4524	MTHFR	[INCOORDINATION(HP:0002311), PSYCHIATRIC DISORDERS(HP:0002368), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PARESTHESIA(HP:0003401), STROKE(HP:0001297), GAIT DISTURBANCE(HP:0001288), AGE OF ONSET(HP:0003674), SEIZURES(HP:0001250), HOMOCYSTINEMIA(HP:0002160), DEVELOPMENTAL RETARDATION(HP:0001263), MICROCEPHALY(HP:0000252), MUSCLE WEAKNESS(HP:0001324), HOMOCYSTINURIA(HP:0002156)]
4534	MTM1	[NARROW FACE(HP:0000275), RESPIRATORY FAILURE REQUIRING ASSISTED VENTILATION(HP:0004887), JOINT CONTRACTURES(HP:0001372), ABNORMALITY OF THE FEET(HP:0001760), EXTERNAL OPHTHALMOPLEGIA(HP:0000544), MACROCEPHALY(HP:0000256), HIGH-ARCHED PALATE(HP:0000156), PYLORIC STENOSIS(HP:0002021), CRYPTORCHIDISM(HP:0000028), DECREASED SPONTANEOUS MOVEMENTS(HP:0002603), LONG, HYPEREXTENSIBLE FINGERS(HP:0006010), GENERALIZED MUSCLE WEAKNESS(HP:0003324), SEVERE MUSCULAR HYPOTONIA(HP:0006829), GROWTH ABNORMALITY(HP:0001507), MITOCHONDRIAL INHERITANCE(HP:0001427), NECK MUSCLE WEAKNESS(HP:0000467), FACIAL MUSCLE WEAKNESS(HP:0010628), DECREASED LIVER FUNCTION(HP:0001410), X-LINKED RECESSIVE INHERITANCE(HP:0001419), AREFLEXIA(HP:0001284), HYDROCEPHALUS(HP:0000238), NEONATAL RESPIRATORY DISTRESS(HP:0002643), DIAPHRAGMATIC EVENTRATION(HP:0009110), POLYHYDRAMNIOS(HP:0001561), DECREASED FETAL MOVEMENT(HP:0001558)]
4547	MTTP	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ATAXIA(HP:0001251), ABETALIPOPROTEINEMIA(HP:0008181), RETINOPATHY(HP:0000488), HEMATOLOGICAL ABNORMALITY(HP:0001871), FAT MALABSORPTION(HP:0002630), DEMYELINATION(HP:0003381)]
4548	MTR	[DECREASED METHIONINE SYNTHASE (MTR, 156570) ACTIVITY(HP:0003524), POOR COORDINATION(HP:0002370), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CLUMSINESS(HP:0002312), FEEDING DIFFICULTIES(HP:0002022), METHYLCOBALAMIN, CBL G, DEFICIENCY(HP:0008287), MEGALOBLASTIC ANEMIA(HP:0001889), CEREBRAL ATROPHY(HP:0002059), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), FAILURE TO THRIVE(HP:0001508), DECREASED SERUM METHIONINE(HP:0003658)]
4552	MTRR	[DECREASED METHIONINE SYNTHASE (MTR, 156570) ACTIVITY(HP:0003524), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED METHYLCOBALAMIN (MECBL)(HP:0003223), MEGALOBLASTIC ANEMIA(HP:0001889), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), HOMOCYSTINURIA(HP:0002156), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
4591	TRIM37	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), DECREASED RETINAL PIGMENTATION WITH DISPERSION(HP:0007659), ABSENT OF SMALL FRONTAL SINUS(HP:0005475), DOLICHOCEPHALY(HP:0000268), HYPERTELORISM(HP:0000316), BROAD AND DEPRESSED NASAL BRIDGE(HP:0004666), TRIANGULAR FACIES(HP:0000325), HEPATOMEGALY(HP:0002240), PERICARDIAL CONSTRICTION(HP:0005132), DENTAL OVERCROWDING(HP:0000678), ABNORMALITY OF THE SKIN(HP:0000951), HYPOPLASIA OF CHOROID(HP:0007757), MUSCULAR HYPOTONIA(HP:0001252), FRONTAL BOSSING(HP:0002007), DYSARTHRIA(HP:0001260), GROWTH RETARDATION(HP:0001510), J-SHAPED SELLA TURCICA(HP:0002680), VENTRICULOMEGALY(HP:0002119), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), MYOCARDIAL FIBROSIS(HP:0001685), STRABISMUS(HP:0000486), WEAK, HIGH-PITCHED VOICE(HP:0008374), ASTIGMATISM(HP:0000483)]
4593	MUSK	[RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), EMG SHOWS DECREMENTAL RESPONSE OF COMPOUND MUSCLE ACTION POTENTIAL (CMAP) TO REPETITIVE NERVE STIMULATION(HP:0003403), LONG FACE(HP:0000276), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MUSCLE CRAMPS(HP:0003394), HIGH-ARCHED PALATE(HP:0000156), VARIABLE SEVERITY(HP:0003814), FEEDING DIFFICULTIES(HP:0002022), NONPROGRESSIVE DISORDER(HP:0003680), DENTAL MALOCCLUSION(HP:0000689), DECREASED MUSCLE MASS(HP:0003199), MUSCULAR HYPOTONIA(HP:0001252), WEAK CRY(HP:0001612), TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554), IMMUNOLOGICAL ABNORMALITY(HP:0002715), GENERALIZED MUSCLE WEAKNESS DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003428), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), MOTOR RETARDATION(HP:0001270), ONSET IN INFANCY(HP:0003576), ONSET IN CHILDHOOD(HP:0003578), MUSCLE BIOPSY SHOWS DECREASED SIZE OF NERVE TERMINALS(HP:0003443), MANDIBULAR PROGNATHIA(HP:0000303), RESPIRATORY INSUFFICIENCY(HP:0002093), FACIAL MUSCLE WEAKNESS(HP:0010628), PTOSIS(HP:0000508), OPHTHALMOPARESIS(HP:0000597), EASY FATIGABILITY(HP:0003388), GOWER SIGN(HP:0003391), DECREASED FETAL MOVEMENT(HP:0001558), STRABISMUS(HP:0000486), ARTHROGRYPOSIS MULTIPLEX IN SEVERE CASES(HP:0002759)]
4594	MUT	[METABOLIC KETOACIDOSIS(HP:0005979), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEONATAL OR INFANTILE METABOLIC KETOACIDOSIS(HP:0005971), CARDIOMYOPATHY(HP:0001638), SEVERE INVOLVEMENT OF GLOBUS PALLIDUS(HP:0007040), DELAYED MYELINATION(HP:0002188), LEUKOPENIA(HP:0001882), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), PANCREATITIS(HP:0001733), DEVELOPMENTAL RETARDATION(HP:0001263), THROMBOCYTOPENIA(HP:0001873), COMA(HP:0001259), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508), METHYLMALONIC ACIDEMIA(HP:0002912), TUBULOINTERSTITIAL NEPHRITIS(HP:0001970), HEPATOMEGALY(HP:0002240), CHRONIC RENAL FAILURE(HP:0000101), DEHYDRATION(HP:0001944), HYPERGLYCINEMIA(HP:0002154)]
4595	MUTYH	[CHRONIC ATROPHIC GASTRITIS(HP:0002582), NEOPLASIA OF THE SKIN(HP:0008069), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
4598	MVK	[ARTHRITIS(HP:0001369), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FLUCTUATING HEPATOMEGALY(HP:0006564), DOLICHOCEPHALY(HP:0000268), LYMPHADENOPATHY(HP:0002716), ELEVATED ERYTHROCYTE SEDIMENTATION RATE(HP:0003565), THROMBOCYTOPENIA(HP:0001873), TRIANGULAR FACIES(HP:0000325), NYSTAGMUS(HP:0000639), LOW-SET EARS(HP:0000369), PROGRESSIVE ATAXIA(HP:0001329), INCREASED IGA LEVEL(HP:0003261), BLUE SCLERAE(HP:0000592), POSTERIORLY ROTATED EARS(HP:0000358), HEADACHE(HP:0002315), VERTIGO(HP:0002321), ABDOMINAL PAIN(HP:0002027), CEREBRAL ATROPHY(HP:0002059), AGENESIS OF CEREBELLAR VERMIS(HP:0002335), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), DEVELOPMENTAL RETARDATION(HP:0001263), ARTHRALGIA(HP:0002829), DIARRHEA(HP:0002014), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), CEREBELLAR ATROPHY(HP:0001272), LEUKOCYTOSIS(HP:0001974), FLUCTUATING SPLENOMEGALY(HP:0006268), HEPATOSPLENOMEGALY(HP:0001433), DECREASED BODY HEIGHT(HP:0004322), NORMOCYTIC HYPOPLASTIC ANEMIA(HP:0004819), INCREASED CREATINE KINASE(HP:0003078), LARGE FONTANELLES(HP:0000239), SKIN RASH(HP:0000988), MICROCEPHALY(HP:0000252), EDEMA(HP:0000969), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), ELEVATED TRANSAMINASES(HP:0002910)]
4602	MYB	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ACUTE LYMPHATIC LEUKEMIA(HP:0006721)]
4607	MYBPC3	[ATRIAL FIBRILLATION OR FLUTTER(HP:0004749), PERICARDIAL EFFUSION(HP:0001698), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONGESTIVE HEART FAILURE(HP:0001635), NEUROLOGICAL ABNORMALITY(HP:0000707), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), VENTRICULAR ARRHYTHMIA(HP:0004308)]
4609	MYC	[NEOPLASIA(HP:0002664)]
4613	MYCN	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EPICANTHUS(HP:0000286), PROMINENT OCCIPUT(HP:0000269), VOCAL CORD PARALYSIS(HP:0001605), FACIAL ASYMMETRY(HP:0000324), TRIANGULAR FACIES(HP:0000325), DUODENAL ATRESIA(HP:0002247), HYPOPLASIA OF THE TOES(HP:0004701), LOW-SET EARS(HP:0000369), BLEPHAROPHIMOSIS(HP:0000581), UPSLANTING PALPEBRAL FISSURES(HP:0000582), LEARNING DISABILITY(HP:0001328), POSTERIORLY ROTATED EARS(HP:0000358), POLYHYDRAMNIOS(HP:0001561), HEARING LOSS(HP:0000365), DECREASED FETAL MOVEMENT(HP:0001558), APLASIA/HYPOPLASIA OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009568), ESOPHAGEAL ATRESIA(HP:0002032), TOE SYNDACTYLY(HP:0001770), HIGH-ARCHED PALATE(HP:0000156), ANNULAR PANCREAS(HP:0001734), FLAT NASAL TIP(HP:0000437), APLASIA/HYPOPLASIA OF THE MIDDLE PHALANX OF THE 5TH FINGER(HP:0009161), ASPLENIA(HP:0001746), PROMINENT LIPS(HP:0000184), ACCESSORY SPLEEN(HP:0001747), POLYSPLENIA(HP:0001748), BROAD NASAL BRIDGE(HP:0000431), TRACHEOESOPHAGEAL FISTULA(HP:0002575), NARES, ANTEVERTED(HP:0000463), HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0010240), MICROGNATHIA(HP:0000210), SMALL ANTERIOR FONTANELLE(HP:0000237), MICROCEPHALY(HP:0000252)]
4618	MYF6	[CONTRACTURES(HP:0001371), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EXTERNAL OPHTHALMOPLEGIA(HP:0000544), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACIAL MUSCLE WEAKNESS(HP:0010628), PROXIMAL MUSCLE WEAKNESS(HP:0003701), DISTAL MUSCLE WEAKNESS(HP:0002460), X-LINKED INHERITANCE(HP:0001417), AREFLEXIA(HP:0001284), PTOSIS(HP:0000508), MYOPATHY(HP:0003198), SLOW PROGRESSION(HP:0003677), METABOLISM ABNORMALITY(HP:0001939), MOTOR RETARDATION(HP:0001270), SLEEPY FACIAL EXPRESSION(HP:0005335), MUSCLE HYPERTROPHY(HP:0003712), EASY FATIGABILITY(HP:0003388)]
4621	MYH3	[KYPHOSCOLIOSIS(HP:0002751), MALAR HYPOPLASIA(HP:0000272), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EPICANTHUS(HP:0000286), KNEE CONTRACTURES(HP:0002978), INGUINAL HERNIA(HP:0000023), HIP CONTRACTURES(HP:0003273), CRYPTORCHIDISM(HP:0000028), NASAL SPEECH(HP:0001611), PROMINENT CHIN WITH CENTRAL DIMPLE(HP:0004648), ARTHROGRYPOSIS(HP:0001390), SPINA BIFIDA OCCULTA(HP:0003298), MASK-LIKE FACIES(HP:0000298), TOE CONTRACTURES(HP:0001860), ULNAR DEVIATION OF THE WRIST(HP:0003049), LONG PHILTRUM(HP:0000343), CALCANEOVALGUS DEFORMITIES(HP:0001848), MANDIBULAR HYPOPLASIA(HP:0000347), 'WHISTLING' APPEARANCE(HP:0000346), SHOULDER CONTRACTURES(HP:0003044), METATARSUS VARUS(HP:0001840), ARTHROGRYPOSIS MULTIPLEX CONGENITA(HP:0002804), VERTICAL TALUS(HP:0001838), TRIANGULAR FACIES(HP:0000325), FULL FOREHEAD(HP:0000333), BLEPHAROPHIMOSIS(HP:0000581), ABNORMALITY OF THE EARS(HP:0000598), TALIPES EQUINOVARUS(HP:0001762), SEVERE CAMPTODACTYLY(HP:0006195), ABNORMALITY OF THE SKIN(HP:0000951), ABNORMAL BRAINSTEM AUDITORY EVOKED POTENTIALS, SUGGESTING DEMYELINATION(HP:0006923), HIGH-ARCHED PALATE(HP:0000156), NASAL HYPOPLASIA(HP:0003196), SEIZURES(HP:0001250), MICROSTOMIA(HP:0000160), DISLOCATED HIPS(HP:0002827), FAILURE TO THRIVE(HP:0001508), BROAD NASAL ROOT(HP:0000424), MENTAL DEFICIENCY(HP:0001267), BROAD NASAL BRIDGE(HP:0000431), HYPOPLASTIC NASAL ALAE(HP:0000430), LOW BIRTH WEIGHT(HP:0001518), HYPOPLASIA OF THE BRAINSTEM(HP:0002365), CEREBELLAR ATROPHY(HP:0001272), PURSED LIPS(HP:0000205), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), WEBBED NECK(HP:0000465), APLASIA/HYPOPLASTIA OF THE INTERPHALANGEAL CREASES(HP:0006031), ADDUCTED THUMBS(HP:0001181), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), WIDENING OF CERVICAL SPINAL CANAL(HP:0004571), TELECANTHUS(HP:0000506), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), SMALL TONGUE(HP:0000226), MICROCEPHALY(HP:0000252), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), DEEP SET EYES(HP:0000490), PROMINENT NASOLABIAL FOLDS(HP:0005272), STRABISMUS(HP:0000486)]
4625	MYH7	[CALF MUSCLE PSEUDOHYPERTROPHY(HP:0003707), MUSCLE BIOPSY SHOWS NONSPECIFIC MYOPATHIC CHANGES(HP:0003705), SCAPULOPERONEAL WEAKNESS(HP:0003704), SUDDEN DEATH(HP:0001699), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WEAKNESS OF LONG FINGER EXTENSOR MUSCLES(HP:0009077), DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), WEAKNESS(HP:0002309), CONGESTIVE HEART FAILURE(HP:0001635), SCAPULOPERONEAL ATROPHY(HP:0003697), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), PROXIMAL MUSCLE WEAKNESS(HP:0003701), SCAPULAR WINGING(HP:0003691), REDUCED VITAL CAPACITY(HP:0002792), WADDLING GAIT(HP:0002515), CENTRALIZED NUCLEI(HP:0003687), LONG, HYPEREXTENSIBLE FINGERS(HP:0006010), ASYMMETRIC SEPTAL HYPERTROPHY(HP:0001670), SLOW PROGRESSION(HP:0003677), TYPE 1 MUSCLE FIBER PREDOMINANCE(HP:0003803), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), SCAPULOPERONEAL MYOPATHY(HP:0009054), INCREASED SERUM CREATINE KINASE(HP:0002147), SUBAORTIC STENOSIS(HP:0001682), ONSET IN CHILDHOOD OR EARLY ADULTHOOD(HP:0003663), ATROPHY OF ANKLE AND TOE EXTENSOR MUSCLES(HP:0009031), ONSET IN INFANCY OR CHILDHOOD(HP:0003583), LATE ONSET(HP:0003584), GENERALIZED MUSCLE ATROPHY, PROXIMAL AND DISTAL(HP:0003788), GENERALIZED MUSCLE WEAKNESS, PROXIMAL AND DISTAL(HP:0003723)]
4626	MYH8	[TALIPES EQUINOVARUS(HP:0001762), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HAMMER TOES(HP:0001765), FEEDING DIFFICULTIES(HP:0002022), DYSPHAGIA(HP:0002015), DISLOCATED HIPS(HP:0002827), CUTANEOUS SYNDACTYLY OF THE TOES(HP:0010621), DECREASED BODY HEIGHT(HP:0004322), METATARSUS VARUS(HP:0001840), MICROGNATHIA(HP:0000210)]
4627	MYH9	[HEARING LOSS, SENSORINEURAL, PROGRESSIVE(HP:0000408), HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), MODERATE-TO-SEVERE THROMBOCYTOPENIA(HP:0008268), BUPHTHALMOS(HP:0000557), MENORRHAGIA(HP:0000132), DEAFNESS(HP:0000404), MYOCARDIAL INFARCTION(HP:0001658), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), GIANT PLATELETS(HP:0001902), HEMATURIA(HP:0000790), MILDLY PROLONGED BLEEDING TIME 10-12 MINUTES(HP:0008294), CONGENITAL CATARACT(HP:0000519), GASTROINTESTINAL HEMORRHAGE(HP:0002239), MILD-TO-MODERATE THROMBOCYTOPENIA(HP:0008302), THROMBOCYTOPENIA, MILD-MODERATE(HP:0008175), EPISTAXIS(HP:0000421), HIGH-TONE SENSORINEURAL DEAFNESS(HP:0001757), ONSET IN CHILDHOOD(HP:0003578), END STAGE RENAL DISEASE(HP:0003774), PROTEINURIA(HP:0000093), DEAFNESS, BILATERAL SENSORINEURAL, HIGH FREQUENCY(HP:0008579), ECCHYMOSES(HP:0000978), SEVERE THROMBOCYTOPENIA(HP:0004838), HIGH-FREQUENCY HEARING LOSS(HP:0005101), MICROSCOPIC HEMATURIA(HP:0002907), LEUKOCYTE INCLUSION BODIES (DOHLE-LIKE BODIES)(HP:0001932), NEPHRITIS(HP:0000123)]
4629	MYH11	[ABNORMALITY OF THE EYES(HP:0000478), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DISSECTING AORTIC ANEURYSM(HP:0002622), AORTIC ANEURYSMS(HP:0004942)]
4644	MYO5A	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ACCUMULATION OF MELANOSOMES IN MELANOCYTES(HP:0001008), HYPOPIGMENTATION OF THE SKIN(HP:0001010), MUSCULAR HYPOTONIA(HP:0001252), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), SILVER-GRAY HAIR(HP:0002218), MELANIN PIGMENT AGGREGATION IN HAIR SHAFTS(HP:0002220), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579)]
4645	MYO5B	[DEATH IN INFANCY(HP:0001522), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEHYDRATION(HP:0001944), PROTRACTED DIARRHEA(HP:0004385), GROWTH RETARDATION(HP:0001510), ENTEROPATHY(HP:0002628), MALNUTRITION(HP:0004395)]
4647	MYO7A	[ABOLISHED ELECTRORETINOGRAM (ERG)(HP:0000550), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), VERTIGO(HP:0002321), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), CONGENITAL CONDUCTIVE DEAFNESS(HP:0008525), VISUAL LOSS(HP:0000572), PROFOUND SENSORINEURAL HEARING LOSS(HP:0008565), CATARACT(HP:0000518), PROFOUND CONGENITAL DEAFNESS(HP:0008563), ATAXIA(HP:0001251), MENTAL RETARDATION(HP:0001249), PROGRESSIVE RETINITIS PIGMENTOSA(HP:0001127), VESTIBULAR AREFLEXIA(HP:0008568), MOTOR RETARDATION(HP:0001270), ONSET IN FIRST DECADE(HP:0003582), ABSENT VESTIBULAR FUNCTION(HP:0008555), ONSET AT BIRTH(HP:0003577), HETEROGENEOUS(HP:0001425), BLINDNESS(HP:0000618), VARIABLE AGE AT ONSET(HP:0003618), METABOLISM ABNORMALITY(HP:0001939), PSYCHOSIS(HP:0000709), HEARING LOSS, SENSORINEURAL, BILATERAL(HP:0008619), CONGENITAL SENSORINEURAL DEAFNESS(HP:0008620), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
4653	MYOC	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), GLAUCOMA(HP:0000501), ABNORMAL IRIS VASCULATURE(HP:0007905)]
4668	NAGA	[WHITE MATER ABNORMALITIES IN THE POSTERIOR PERIVENTRICULAR REGION(HP:0006812), DRY SKIN(HP:0000958), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), COARSE FACIAL FEATURES(HP:0000280), HEARING LOSS, SENSORINEURAL(HP:0000407), LIMB CONTRACTURES BY AGE 4-5 YEARS(HP:0005839), GENERALIZED AMYOTROPHY(HP:0003700), VERTIGO(HP:0002321), OSTEOPENIA(HP:0000938), HYPERREFLEXIA(HP:0001347), DISTAL SENSORY IMPAIRMENT OF ALL MODALITIES(HP:0003409), FULL LIPS(HP:0000170), MUSCULAR HYPOTONIA(HP:0001252), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), LOSS OF DEVELOPMENTAL MILESTONES(HP:0002471), SPASTICITY(HP:0001257), FLATTENED NASAL BRIDGE(HP:0000425), ONSET IN ADULTHOOD(HP:0003581), ONSET IN INFANCY(HP:0003576), COGNITIVE IMPAIRMENT(HP:0002128), INCREASED URINARY O-LINKED SIALOPEPTIDES(HP:0003461), LYMPHEDEMA(HP:0001004), DISTAL SENSORY IMPAIRMENT(HP:0002936), NYSTAGMUS(HP:0000639), MYOCLONUS(HP:0001336), ANGIOKERATOMA CORPORIS DIFFUSUM(HP:0001071), DISTAL LIMB MUSCLE WEAKNESS(HP:0003497), TELANGIECTASIA ON LIPS AND ORAL MUCOSA(HP:0007428), MRI MAY SHOW ATROPHY OF THE CEREBRUM(HP:0006890), CORTICAL BLINDNESS(HP:0000595), AXONAL PERIPHERAL NEUROPATHY(HP:0007169), HYPERKERATOSIS(HP:0000962), STRABISMUS(HP:0000486), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
4669	NAGLU	[CARDIOMEGALY(HP:0001640), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILDLY COARSE FACIES(HP:0000281), DYSOSTOSIS MULTIPLEX(HP:0000943), SEVERE BEHAVIORAL PROBLEMS AT AGE 3-4(HP:0002456), SEIZURES(HP:0001250), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), MILD HEPATOMEGALY(HP:0001398), DIARRHEA(HP:0002014), FREQUENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0001740), MILD SPLENOMEGALY(HP:0001745), SYNOPHRYS(HP:0000664), ONSET IN EARLY CHILDHOOD(HP:0003580), SLEEP DISTURBANCES(HP:0002360), OVOID THORACOLUMBAR VERTEBRAE(HP:0003309), THICKENED RIBS(HP:0000900), COARSE HAIR(HP:0002208), HIRSUTISM(HP:0001007), HYPERACTIVITY(HP:0000752), ASYMMETRIC SEPTAL HYPERTROPHY(HP:0001670), SLOWING MENTAL DEVELOPMENT BY 1.5 TO 3 YEARS OF AGE(HP:0002402), AGGRESSIVE BEHAVIOR(HP:0000718), MILD JOINT STIFFNESS(HP:0003033), DENSE CALVARIA(HP:0000250), HEARING LOSS(HP:0000365), HEPARAN SULFATE EXCRETION IN URINE(HP:0002159)]
4683	NBN	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RECURRENT URINARY TRACT INFECTIONS(HP:0000010), AUTOIMMUNE HEMOLYTIC ANEMIA(HP:0001890), MASTOIDITIS(HP:0000265), NEURODEGENERATION(HP:0002180), RECURRENT INFECTIONS(HP:0002719), PROMINENT MIDFACE(HP:0000310), GLIOMA(HP:0009733), DYSGAMMAGLOBULINEMIA(HP:0002961), SLOPING FOREHEAD(HP:0000340), PRIMARY OVARIAN FAILURE(HP:0001587), UPSLANTING PALPEBRAL FISSURES(HP:0000582), HYDRONEPHROSIS(HP:0000126), CAFE-AU-LAIT SPOTS(HP:0000957), LARGE, DYSPLASTIC EARS(HP:0000401), RHABDOMYOSARCOMA(HP:0002859), ANAL ATRESIA(HP:0002023), PROGRESSIVE VITILIGO(HP:0005602), ANAL STENOSIS(HP:0002025), OTITIS MEDIA(HP:0000388), CLEFT PALATE(HP:0000175), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), LONG NOSE(HP:0003189), DIARRHEA(HP:0002014), BRONCHIECTASIS(HP:0002110), BRONCHITIS(HP:0002837), RECURRENT PNEUMONIA(HP:0002095), PRENATAL GROWTH DEFICIENCY(HP:0001515), CLEFT LIP(HP:0000204), DECREASED BODY HEIGHT(HP:0004322), HYPERACTIVITY(HP:0000752), CHOANAL ATRESIA(HP:0000453), LYMPHOMA(HP:0002665), MICROGNATHIA(HP:0000210), MEDULLOBLASTOMA(HP:0002885), MENTAL RETARDATION BY THE AGE OF 7 YEARS(HP:0007176), MICROCEPHALY(HP:0000252), SINUSITIS(HP:0000246)]
4688	NCF2	[RECTAL ABSCESS(HP:0005224), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KLEBSIELLA INFECTIONS(HP:0002742), E. COLI INFECTIONS(HP:0002740), SERRATIA MARCESCENS INFECTIONS(HP:0002741), STAPHYLOCOCCUS AUREUS INFECTIONS(HP:0002726), ASPERGILLUS INFECTIONS(HP:0002724), ABSENCE OF BACTERICIDAL OXIDATIVE 'RESPIRATORY BURST' IN PHAGOCYTES(HP:0002723), ABSCESS FORMATION IN ANY ORGAN(HP:0002722), IMMUNODEFICIENCY(HP:0002721), LYMPHADENOPATHY(HP:0002716), PNEUMONIA DUE TO IMMUNODEFICIENCY(HP:0002096), CELLULITIS DUE TO IMMUNODEFICIENCY(HP:0003553), TISSUE BIOPSY SHOWS GRANULOMAS(HP:0002955), HEPATIC ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0001400), SPLENOMEGALY(HP:0001744), PERIRECTAL ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0002567), BURKHOLDERIA CEPACIA INFECTIONS(HP:0002842), LYMPHADENITIS(HP:0002840), HYPOKINESIA(HP:0002375), NEGATIVE NITROBLUE TETRAZOLIUM (NBT) REDUCTION TEST(HP:0003203), DECREASED ACTIVITY OF NADPH OXIDASE(HP:0003206), ONSET USUALLY IN FIRST DECADE(HP:0003619), HEPATOMEGALY(HP:0002240), ECZEMATOID DERMATITIS(HP:0000976), DERMATITIS, INFECTIOUS, DUE TO IMMUNODEFICIENCY IMPETIGO(HP:0000983), DISCOID LUPUS IN CARRIERS OR ADULTS WITH MILD DISEASE(HP:0000981), OSTEOMYELITIS DUE TO IMMUNODEFICIENCY(HP:0002755)]
4692	NDN	[MYOPIA(HP:0000545), GROWTH HORMONE DEFICIENCY(HP:0000824), EARLY DENTAL CARIES(HP:0006306), CRYPTORCHIDISM(HP:0000028), DOLICHOCEPHALY(HP:0000268), HYPERNASAL SPEECH(HP:0001614), FRONTAL HAIR UPSWEEP(HP:0002236), GENERALIZED MUSCLE WEAKNESS(HP:0003324), BITEMPORAL NARROWING(HP:0000314), SCROTAL HYPOPLASIA(HP:0000046), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), MICROPENIS(HP:0000054), HYPERMETROPIA(HP:0000540), HYPOPLASTIC CLITORIS(HP:0000060), KYPHOSIS(HP:0002808), HYPOPLASTIC LABIA MINORA(HP:0000064), FALLS(HP:0002527), OLIGOMENORRHEA(HP:0000876), HYPOVENTILATION(HP:0002791), UPSLANTING PALPEBRAL FISSURES(HP:0000582), LEARNING DISABILITY(HP:0001328), HYPERINSULINEMIA(HP:0000842), POOR SUCK(HP:0002033), AMENORRHEA(HP:0000141), SMALL FEET(HP:0001764), WEAKNESS(HP:0002309), NARROW HAND(HP:0004283), OSTEOPOROSIS(HP:0000939), OSTEOPENIA(HP:0000938), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), FAILURE TO THRIVE IN INFANCY(HP:0001531), SLEEP DISTURBANCES(HP:0002360), CLINODACTYLY OF HANDS(HP:0001157), FEEDING PROBLEMS IN INFANCY(HP:0008872), SYNDACTYLY(HP:0001159), SMALL HANDS(HP:0001165), TRUNCAL OBESITY(HP:0001956), THIN UPPER LIP(HP:0000219), PHOTOSENSITIVITY(HP:0000992), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), ISOLATED CASES(HP:0001420), FAIR SKIN(HP:0000984), POOR FINE MOTOR COORDINATION(HP:0007010), SCOLIOSIS(HP:0002650), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486)]
4693	NDP	[CONGENITAL RETINAL FOLDS(HP:0008013), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOPLASIA OF THE IRIS(HP:0007676), RETINAL DYSGENESIS(HP:0008022), MICROPHTHALMOS(HP:0000568), CATARACT(HP:0000518), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), CORNEAL CLOUDING(HP:0000515), DETACHED RETINA(HP:0000541), ENOPHTHALMOS(HP:0000663), PERIPHERAL VITREOUS OPACITIES(HP:0007710), HALLUCINATIONS(HP:0000738), BLINDNESS IN INFANCY OR VERY EARLY CHILDHOOD(HP:0007839), X-LINKED RECESSIVE INHERITANCE(HP:0001419), AGGRESSIVE BEHAVIOR(HP:0000718), RETINAL DYSPLASIA(HP:0007973), PSYCHOSIS(HP:0000709), SHALLOW ANTERIOR CHAMBER(HP:0000594), SUBRETINAL AND INTRARETINAL EXUDATES(HP:0007989), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), DEMENTIA(HP:0000726), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
4694	NDUFA1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BLINDNESS(HP:0000618), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), MUSCLE WEAKNESS(HP:0001324), HEARING LOSS, SENSORINEURAL(HP:0000407), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LEUKODYSTROPHY(HP:0002415), STRABISMUS(HP:0000486)]
4695	NDUFA2	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), SPASTICITY(HP:0001257), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), NYSTAGMUS(HP:0000639), HYPERTRICHOSIS(HP:0000998), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), DYSTONIA(HP:0001332), INCREASED SERUM LACTATE(HP:0002151), OPHTHALMOPLEGIA(HP:0000602), DEMYELINATION(HP:0003381)]
4703	NEB	[JOINT CONTRACTURES(HP:0001372), RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE SEVERITY(HP:0003814), ABSENCE OF SPONTANEOUS RESPIRATION(HP:0005958), NEMALINE BODIES(HP:0003798), GENERALIZED MUSCLE WEAKNESS(HP:0003324), MUSCLE BIOPSY SHOWS NONSPECIFIC MYOPATHIC CHANGES WITHOUT DYSTROPHIC OR INFLAMMATORY CHANGES(HP:0003802), TYPE 1 MUSCLE FIBER PREDOMINANCE(HP:0003803), SEVERE ARTHROGRYPOSIS(HP:0001389), HYPERLORDOSIS(HP:0003307), ONSET IN INFANCY(HP:0003576), EMG SHOWS MYOPATHIC CHANGES EARLY IN DISEASE(HP:0009021), BULBAR PALSY(HP:0001283), WADDLING GAIT(HP:0002515), AREFLEXIA(HP:0001284), LOW-SET EARS(HP:0000369), DISTAL LIMB MUSCLE WEAKNESS OCCURS LATER(HP:0003728), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), POLYHYDRAMNIOS(HP:0001561), DECREASED FETAL MOVEMENT(HP:0001558), NEONATAL HYPOTONIA(HP:0001319), NECK FLEXOR WEAKNESS(HP:0003722), HIGH-ARCHED PALATE(HP:0000156), FEEDING DIFFICULTIES(HP:0002022), MYOPATHIC FACIES(HP:0002058), CLEFT PALATE(HP:0000175), ASTHENIC HABITUS(HP:0001533), DYSPHAGIA(HP:0002015), MOTOR RETARDATION(HP:0001270), FREQUENT FALLS(HP:0002359), HYPOREFLEXIA(HP:0001265), RESPIRATORY INSUFFICIENCY(HP:0002093), ABNORMALITY OF THE EYES(HP:0000478), METABOLISM ABNORMALITY(HP:0001939), SCOLIOSIS(HP:0002650)]
4719	NDUFS1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BLINDNESS(HP:0000618), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), MUSCLE WEAKNESS(HP:0001324), HEARING LOSS, SENSORINEURAL(HP:0000407), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LEUKODYSTROPHY(HP:0002415), STRABISMUS(HP:0000486)]
4720	NDUFS2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BLINDNESS(HP:0000618), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), MUSCLE WEAKNESS(HP:0001324), HEARING LOSS, SENSORINEURAL(HP:0000407), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LEUKODYSTROPHY(HP:0002415), STRABISMUS(HP:0000486)]
4722	NDUFS3	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), SPASTICITY(HP:0001257), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), NYSTAGMUS(HP:0000639), HYPERTRICHOSIS(HP:0000998), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), DYSTONIA(HP:0001332), INCREASED SERUM LACTATE(HP:0002151), OPHTHALMOPLEGIA(HP:0000602), DEMYELINATION(HP:0003381)]
4723	NDUFV1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BULBAR SIGNS(HP:0002483), BLINDNESS(HP:0000618), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), PIGMENTARY RETINOPATHY(HP:0000580), DYSTONIA(HP:0001332), MUSCLE WEAKNESS(HP:0001324), OPHTHALMOPLEGIA(HP:0000602), DIFFUSE DEMYELINATION(HP:0006881), FEEDING DIFFICULTIES(HP:0002022), PSYCHOMOTOR RETARDATION(HP:0001255), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), INCREASED CSF PROTEIN(HP:0002922), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), JUVENILE ONSET(HP:0003621), X-LINKED DOMINANT INHERITANCE(HP:0001423), HYPERTRICHOSIS(HP:0000998), PTOSIS(HP:0000508), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), HYPOGLYCEMIA(HP:0001943), HYDROCEPHALUS(HP:0000238), LACTIC ACIDEMIA(HP:0003128), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), LEUKODYSTROPHY(HP:0002415), GLIOSIS(HP:0002171), INCREASED SERUM LACTATE(HP:0002151), ONSET IN ADOLESCENCE(HP:0003590), STRABISMUS(HP:0000486)]
4724	NDUFS4	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), EXERCISE INTOLERANCE(HP:0003546), CEREBRAL EDEMA(HP:0002181), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BLINDNESS(HP:0000618), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), PIGMENTARY RETINOPATHY(HP:0000580), DYSTONIA(HP:0001332), MUSCLE WEAKNESS(HP:0001324), OPHTHALMOPLEGIA(HP:0000602), FEEDING DIFFICULTIES(HP:0002022), PSYCHOMOTOR RETARDATION(HP:0001255), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), FAILURE TO THRIVE(HP:0001508), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), X-LINKED DOMINANT INHERITANCE(HP:0001423), HYPERTRICHOSIS(HP:0000998), PTOSIS(HP:0000508), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), LEUKODYSTROPHY(HP:0002415), GLIOSIS(HP:0002171), INCREASED SERUM LACTATE(HP:0002151), STRABISMUS(HP:0000486), DEMYELINATION(HP:0003381)]
4726	NDUFS6	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BLINDNESS(HP:0000618), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), MUSCLE WEAKNESS(HP:0001324), HEARING LOSS, SENSORINEURAL(HP:0000407), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LEUKODYSTROPHY(HP:0002415), STRABISMUS(HP:0000486)]
4728	NDUFS8	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), SPASTICITY(HP:0001257), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), NYSTAGMUS(HP:0000639), HYPERTRICHOSIS(HP:0000998), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), DYSTONIA(HP:0001332), INCREASED SERUM LACTATE(HP:0002151), OPHTHALMOPLEGIA(HP:0000602), DEMYELINATION(HP:0003381)]
4747	NEFL	[PES CAVUS(HP:0001761), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HAMMER TOES(HP:0001765), VARIABLE SEVERITY(HP:0003814), DISTAL AMYOTROPHY(HP:0003693), NORMAL OR MILDLY DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003437), SEGMENTAL DEMYELINATION/REMYELINATION ON NERVE BIOPSY(HP:0003425), HYPOTROPHY OF THE SMALL HAND MUSCLES(HP:0006006), MOTOR RETARDATION(HP:0001270), HYPOREFLEXIA(HP:0001265), ONSET IN INFANCY OR CHILDHOOD(HP:0003583), CLUSTERS OF AXONAL REGENERATION(HP:0007233), HETEROGENEOUS(HP:0001425), SEGMENTAL DEMYELINATION(HP:0007107), SMALL HANDS(HP:0001165), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV) (LESS THAN 38 M/S)(HP:0000760), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), CLAW HAND DEFORMITIES (IN SEVERE CASES)(HP:0001178), AREFLEXIA(HP:0001284), IRREGULAR MYELIN FOLDINGS(HP:0006898), FOOT DROP(HP:0003377), 'STEPPAGE' GAIT(HP:0003376), DECREASED NUMBER OF MYELINATED FIBERS(HP:0003380), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383)]
4758	NEU1	[CARDIOMEGALY(HP:0001640), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACIAL EDEMA(HP:0000282), COARSE FACIAL FEATURES(HP:0000280), CARDIOMYOPATHY(HP:0001638), HEARING LOSS, SENSORINEURAL(HP:0000407), MENTAL RETARDATION, MODERATE TO SEVERE(HP:0002316), DYSOSTOSIS MULTIPLEX(HP:0000943), INGUINAL HERNIA(HP:0000023), SLURRED SPEECH(HP:0001350), HYPERREFLEXIA(HP:0001347), HYDROPS FETALIS(HP:0001789), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), MENTAL RETARDATION, MODERATE(HP:0002342), SPLENOMEGALY(HP:0001744), STILLBIRTH(HP:0001624), PROGRESSIVE VISUAL LOSS(HP:0000529), DYSMETRIA(HP:0001310), DECREASED BODY HEIGHT(HP:0004322), LARGE VACUOLATED FOAM CELLS ('NP CELLS') ON BONE MARROW BIOPSY(HP:0001979), AMYOTROPHY(HP:0003202), STIPPLING OF THE EPIPHYSES(HP:0010655), PROTEINURIA(HP:0000093), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), MYOCLONUS(HP:0001336), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), ASCITES(HP:0001541), MUSCLE WEAKNESS(HP:0001324), VACUOLATED LYMPHOCYTES(HP:0001922)]
4763	NF1	[MALAR HYPOPLASIA(HP:0000272), HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), GENU VALGUM(HP:0002857), MENINGIOMA(HP:0002858), RHABDOMYOSARCOMA(HP:0002859), TIBIAL PSEUDOARTHROSIS(HP:0009736), LISCH NODULES(HP:0009737), OPTIC GLIOMA(HP:0009734), NEUROFIBROMAS CAN OCCUR AT CERVICAL, THORACIC, LUMBAR, AND SACRAL LEVELS(HP:0007077), SPINAL NEUROFIBROMAS(HP:0009735), PSEUDOARTHROSIS(HP:0005864), PLEXIFORM NEUROFIBROMA(HP:0009732), HYPERTELORISM(HP:0000316), NEUROFIBROMAS MAY OR MAY NOT BE PRESENT(HP:0007386), RELATIVE MACROCEPHALY(HP:0004482), EPILEPSY(HP:0001275), DECREASED BODY HEIGHT(HP:0004322), WEBBED NECK(HP:0000465), PARAPARESIS(HP:0002385), HYPSARRHYTHMIA(HP:0002521), PHEOCHROMOCYTOMA(HP:0002666), SPINAL NERVE ROOT NEUROFIBROMAS, SYMMETRIC, MULTIPLE(HP:0006851), AXILLARY FRECKLING(HP:0000997), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), PTOSIS(HP:0000508), HYDROCEPHALUS(HP:0000238), LOW-SET EARS(HP:0000369), GLAUCOMA(HP:0000501), LEARNING DISABILITY(HP:0001328), SPINA BIFIDA(HP:0002414), SCOLIOSIS(HP:0002650), AQUEDUCTAL STENOSIS(HP:0002410), MULTIPLE CAFE-AU-LAIT SPOTS(HP:0007565), SECUNDUM ATRIAL SEPTAL DEFECT(HP:0001684), PARATHYROID ADENOMA(HP:0002897), CAFE-AU-LAIT SPOTS MAY OR MAY NOT BE PRESENT(HP:0007454), RENAL ARTERY STENOSIS(HP:0001920), PROMINENT NASOLABIAL FOLDS(HP:0005272)]
4771	NF2	[ABNORMALITY OF THE CHROMOSOMES(HP:0002916), VARIABLE EXPRESSIVITY(HP:0003828), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCOMPLETE PENETRANCE(HP:0003829), HEADACHE(HP:0002315), NEUROFIBROMATOSIS(HP:0006746), MENINGIOMA(HP:0002858), JUVENILE CORTICAL CATARACT(HP:0007876), OCCASIONAL CAFE-AU-LAIT SPOTS(HP:0005601), ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925), OCCASIONAL NEUROFIBROMAS(HP:0009595), ATAXIA(HP:0001251), RETINAL HAMARTOMA(HP:0009594), PERIPHERAL SCHWANNOMA(HP:0009593), ASTROCYTOMA(HP:0009592), UNILATERAL VESTIBULAR SCHWANNOMA(HP:0009590), EPENDYMOMA(HP:0002888), BILATERAL VESTIBULAR SCHWANNOMA(HP:0009589), JUVENILE POSTERIOR SUBCAPSULAR LENTICULAR OPACITIES(HP:0007935), HEARING LOSS(HP:0000365), TINNITUS(HP:0000360)]
4803	NGF	[NEUROPATHY(HP:0003407), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ACRAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION OF THE DIGITS(HP:0001226), FEVER, EPISODIC(HP:0001954), PAINLESS FRACTURES DUE TO INJURY(HP:0002661), ACCIDENTAL INJURY AND ULCERATION OF THE LIPS AND TONGUE DUE TO DECREASED SENSATION(HP:0002713), DISTAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION(HP:0005040), ANHIDROSIS(HP:0000970), OSTEOMYELITIS(HP:0002754), ACRAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION OF THE DIGITS (FEET)(HP:0001862), ONSET IN INFANCY(HP:0003576)]
4810	NHS	[SUPERNUMERARY MAXILLARY INCISORS(HP:0006332), BROAD FINGERS(HP:0001500), DIASTEMA(HP:0000699), POSTERIOR Y-SUTURAL CATARACT(HP:0008031), MICROPHTHALMOS(HP:0000568), LONG, NARROW FACIES(HP:0000318), PROMINENT NASAL BRIDGE(HP:0000426), X-LINKED DOMINANT INHERITANCE(HP:0001423), NYSTAGMUS(HP:0000639), PROMINENT NOSE(HP:0000448), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), AUTISM(HP:0000717), GLAUCOMA(HP:0000501), SCREWDRIVER BLADE-SHAPED INCISORS(HP:0006346), ABNORMALITY OF THE EARS(HP:0000598), MICROCORNEA(HP:0000482)]
4830	NME1	[HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCOMPLETE PENETRANCE(HP:0003829), GANGLIONEUROMA(HP:0003005), ABDOMINAL DISTENTION(HP:0003270), HIGHLY VARIABLE PHENOTYPE(HP:0003815), ANEMIA(HP:0001903), SPINAL CORD COMPRESSION(HP:0002176), ABDOMINAL PAIN(HP:0002027), AGE OF ONSET(HP:0003674), ATAXIA(HP:0001251), DIARRHEA(HP:0002014), FAILURE TO THRIVE(HP:0001508), NEUROBLASTOMA, ARISES ANYWHERE ALONG THE SYMPATHETIC CHAIN(HP:0006738), GANGLIONEUROBLASTOMA(HP:0006747), ABNORMALITY OF THE THORAX(HP:0000765), WEIGHT LOSS(HP:0001824), ISOLATED CASES(HP:0001420), MYOCLONUS(HP:0001336), ECCHYMOSES(HP:0000978), BONE PAIN(HP:0002653), FEVER(HP:0001945), HORNER SYNDROME(HP:0002277)]
4838	NODAL	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEXTROCARDIA(HP:0001651), TRANSPOSITION OF THE GREAT VESSELS(HP:0001669), ABDOMINAL SITUS INVERSUS(HP:0003363), INTRAUTERINE GROWTH RETARDATION(HP:0001511), VENTRICULAR SEPTAL DEFECT(HP:0001629), RESPIRATORY ABNORMALITY(HP:0002086), ATRIAL SEPTAL DEFECT(HP:0001631)]
4851	NOTCH1	[BICUSPID AORTIC VALVE(HP:0001647)]
4854	NOTCH3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), VARICOSE VEINS(HP:0002619), MIGRAINE(HP:0002076), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), URINARY INCONTINENCE(HP:0000020), ABNORMALITY OF VISION EVOKED POTENTIALS(HP:0000649), ABNORMAL ELECTRORETINOGRAM(HP:0000512), SEIZURES(HP:0001250), LEUKOENCEPHALOPATHY(HP:0002352), NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY(HP:0007634), ONSET IN ADULTHOOD(HP:0003581), RECURRENT SUBCORTICAL INFARCTS(HP:0007236), PSYCHIATRIC DISORDERS(HP:0002368), GAIT DISTURBANCE(HP:0001288), SUBCORTICAL DEMENTIA, PROGRESSIVE(HP:0007123), PSEUDOBULBAR PARALYSIS(HP:0007024)]
4860	PNP	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AUTOIMMUNE NEUTROPENIA(HP:0001904), SMALL LYMPH NODES(HP:0002732), LYMPHOPENIA(HP:0001888), AUTOIMMUNE HEMOLYTIC ANEMIA(HP:0001890), ABNORMAL B CELL FUNCTION(HP:0005372), OTITIS MEDIA(HP:0000388), CEREBRAL VASCULITIS(HP:0005318), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), MOTOR RETARDATION(HP:0001270), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), SPASTIC DIPLEGIA(HP:0001264), PNEUMONIA(HP:0002090), HYPERTONIA(HP:0001276), MARKEDLY REDUCED T CELL FUNCTION(HP:0005409), URINARY TRACT INFECTIONS(HP:0000094), LYMPHOMA(HP:0002665), RECURRENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0002788), TREMOR(HP:0001337), IDIOPATHIC THROMBOCYTOPENIA(HP:0001936), RECURRENT LOWER RESPIRATORY TRACT INFECTIONS(HP:0002783), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), FREQUENT BACTERIAL, VIRAL, AND OPPORTUNISTIC INFECTIONS(HP:0005390), SINUSITIS(HP:0000246), TETRAPARESIS(HP:0002273)]
4864	NPC1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEUROFIBRILLARY TANGLES(HP:0002185), HIGHLY VARIABLE PHENOTYPE(HP:0003815), FETAL ASCITES(HP:0001791), FATAL LIVER FAILURE IN INFANCY(HP:0006583), CEREBELLAR ATAXIA(HP:0001253), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), HIGHLY VARIABLE PHENOTYPE AND AGE OF ONSET(HP:0003664), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), SPASTICITY(HP:0001257), SPLENOMEGALY(HP:0001744), MENTAL DETERIORATION(HP:0001268), FOAM CELLS CONTAIN POLYMORPHIC CYTOPLASMIC INCLUSIONS CONSISTING OF LAMELLAR OSMIOPHILIC MEMBRANES ON ELECTRON MICROSCOPY(HP:0003650), HYPOKINESIA(HP:0002375), FOAM CELLS ON BONE MARROW BIOPSY(HP:0004333), HETEROGENEOUS(HP:0001425), LOSS OF SPEECH(HP:0002371), FOAM CELLS IN VISCERAL ORGANS AND CNS(HP:0003640), 'SEA-BLUE' HISTIOCYTES(HP:0001982), ABNORMAL CHOLESTEROL HOMEOSTASIS(HP:0003464), CATAPLEXY(HP:0002524), HEPATOMEGALY(HP:0002240), LOW CHOLESTEROL ESTERIFICATION RATES(HP:0003349), NEONATAL JAUNDICE(HP:0000986), VERTICAL SUPRANUCLEAR GAZE PALSY(HP:0000511), PSYCHOSIS(HP:0000709), DYSTONIA(HP:0001332), POOR SCHOOL PERFORMANCE(HP:0000730), EARLY ONSET(HP:0003593), DEMENTIA(HP:0000726)]
4867	NPHP1	[JUVENILE NEPHRONOPHTHISIS(HP:0004748), TAPETORETINAL DEGENERATION(HP:0000547), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTERSTITIAL FIBROSIS(HP:0000129), HYPOSTHENURIA(HP:0003158), ANEMIA(HP:0001903), HYPOMETRIC SACCADES(HP:0000571), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), GROWTH RETARDATION(HP:0001510), TUBULOINTERSTITIAL MEDULLARY CYSTIC KIDNEY DISEASE(HP:0005582), TUBULAR BASEMENT MEMBRANE DISINTEGRATION(HP:0005583), OCULOMOTOR APRAXIA(HP:0000657), HETEROGENEOUS(HP:0001425), COGNITIVE IMPAIRMENT, MILD(HP:0002129), END STAGE RENAL DISEASE(HP:0003774), POLYDIPSIA(HP:0001959), TUBULAR ATROPHY(HP:0000092), NYSTAGMUS(HP:0000639), THICK AND ELONGATED SUPERIOR CEREBELLAR PEDUNCLES(HP:0002404), POLYURIA(HP:0000103), GROSS MOTOR DELAY, MILD(HP:0006905), CORTICOMEDULLARY CYSTS(HP:0000108), CEREBELLAR VERMIS HYPOPLASIA(HP:0001320), 'MOLAR TOOTH SIGN' ON MRI(HP:0002419)]
4868	NPHS1	[HYPOTHYROIDISM(HP:0000821), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABDOMINAL DISTENTION(HP:0003270), PYLORIC STENOSIS(HP:0002021), GASTROESOPHAGEAL REFLUX(HP:0002020), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), HYPOALBUMINEMIA(HP:0003073), HYPOPROTEINEMIA(HP:0003075), NEONATAL RESPIRATORY DISTRESS(HP:0002643), RECURRENT INFECTIONS(HP:0002719), EDEMA(HP:0000969), CONGENITAL NEPHROSIS(HP:0008677), LOW BIRTH WEIGHT(HP:0001518)]
4869	NPM1	[FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
4878	NPPA	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ENDOCRINE ABNORMALITY(HP:0000818), ATRIAL FIBRILLATION(HP:0005110)]
4882	NPR2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RADIAL BOWING(HP:0002986), BOWING OF THE LEGS(HP:0002979), LOWER THORACIC KYPHOSIS(HP:0004633), ANTERIOR BEAKING OF VERTEBRAL BODIES(HP:0003313), JOINT LAXITY(HP:0001388), OVOID VERTEBRAL BODIES(HP:0003300), SHORT, BROAD METATARSALS(HP:0001865), GENU VARUM(HP:0002970), LIMITED ELBOW EXTENSION(HP:0001377), GENU VARUS(HP:0003052), INCREASED LENGTH OF THE HALLUX(HP:0001847), HYPOPLASIA OF THE TOES(HP:0004701), SHORT STATURE, DISPROPORTIONATE(HP:0003498), METAPHYSEAL FLARING(HP:0003015), NARROW THORACOLUMBAR INTERPEDICULATE DISTANCE(HP:0008484), SHORT LONG BONES(HP:0003026), SHORT NAILS(HP:0001799), THORACOLUMBAR KYPHOSIS(HP:0005619), SHORT, BROAD FINGERS(HP:0001497), NASAL HYPOPLASIA(HP:0003196), FRONTAL BOSSING(HP:0002007), PROGRESSIVE SHORTENING OF RADIUS IN FIRST YEAR(HP:0006418), LOOSE, REDUNDANT SKIN ON FINGERS(HP:0007516), CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230), ACROMESOMELIA(HP:0003086), ABNORMALITY OF THE THORAX(HP:0000765), SHORT, WIDE PHALANGES(HP:0006030), LUMBAR HYPERLORDOSIS(HP:0002938), SHORT, BROAD METACARPALS(HP:0006065)]
4891	SLC11A2	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANEMIA(HP:0001903), ABNORMALITY OF THE LIVER(HP:0001392)]
4893	NRAS	[TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), UTERINE LEIOMYOSARCOMA(HP:0002891), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716), FOLLICULAR THYROID CARCINOMA(HP:0006731)]
4914	NTRK1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CORNEAL SCARRING(HP:0000559), ACRAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION OF THE DIGITS(HP:0001226), MEDULLARY THYROID CARCINOMA(HP:0002865), AUTONOMIC DYSFUNCTION(HP:0002387), POSTURAL HYPOTENSION WITH COMPENSATORY TACHYCARDIA(HP:0005307), HYPERACTIVITY(HP:0000752), HYPOTRICHOSIS OF THE SCALP(HP:0004782), EMOTIONAL LABILITY(HP:0000712), NAIL DYSPLASIA(HP:0002164), NEUROPATHIC ARTHROPATHY(HP:0002821), ACCIDENTAL INJURY AND ULCERATION OF THE LIPS AND TONGUE DUE TO DECREASED SENSATION(HP:0002713), MENTAL RETARDATION(HP:0001249), IMMUNOLOGICAL ABNORMALITY(HP:0002715), CORNEAL CLOUDING(HP:0000515), DEVELOPMENTAL RETARDATION(HP:0001263), PAIN INSENSITIVITY, DIFFUSE(HP:0007021), DECREASED SMALL MYELINATED NERVE FIBERS(HP:0007249), DISTAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION(HP:0005040), ANHIDROSIS(HP:0000970), RECURRENT CORNEAL EROSIONS(HP:0000495), FEVER, EPISODIC, SEVERE(HP:0004903), OSTEOMYELITIS(HP:0002754), ONSET IN INFANCY(HP:0003576), ACRAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION OF THE DIGITS (FEET)(HP:0001862)]
4920	ROR2	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INGUINAL HERNIA(HP:0000023), CRYPTORCHIDISM(HP:0000028), VENTRICULAR SEPTAL DEFECT(HP:0001629), MICROPENIS(HP:0000054), HYPOPLASTIC LABIA MAJORA(HP:0000059), PROMINENT EYES(HP:0000536), HYPOPLASTIC CLITORIS(HP:0000060), APLASIA/HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009835), RENAL DUPLICATION(HP:0000075), NEVUS FLAMMEUS(HP:0001052), LONG PALPEBRAL FISSURES(HP:0000637), UMBILICAL HERNIA(HP:0001537), HYDRONEPHROSIS(HP:0000126), DENTAL OVERCROWDING(HP:0000678), APLASTIC/HYPOPLASTIC FINGERNAILS(HP:0008384), MACROGLOSSIA(HP:0000158), DELAYED ERUPTION OF SECONDARY TEETH(HP:0000696), TYPE A BRACHYDACTYLY(HP:0009370), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), PARTIAL/COMPLETE DUPLICATION OF THE DISTAL PHALANGES OF THE HAND(HP:0009883), TRIANGULAR MOUTH(HP:0000207), CLINODACTYLY OF HANDS(HP:0001157), SYNDACTYLY(HP:0001159), SMALL HANDS(HP:0001165), RIGHT VENTRICULAR OUTLET OBSTRUCTION(HP:0001705), HYPOPLASTIC SACRUM(HP:0004590), PECTUS EXCAVATUM(HP:0000767), GINGIVAL HYPERPLASIA(HP:0000212), MICROGNATHIA(HP:0000210), MALAR HYPOPLASIA(HP:0000272), MACROCEPHALY(HP:0000256), WIDE ANTERIOR FONTANEL(HP:0000260), DELAYED CLOSURE OF FONTANELLES(HP:0000270), VERTEBRAL FUSION(HP:0002948), HYPERTELORISM(HP:0000316), THORACOLUMBAR SCOLIOSIS(HP:0002944), BIFID TERMINAL PHALANGES (FEET)(HP:0001853), LONG PHILTRUM(HP:0000343), THORACIC HEMIVERTEBRAE(HP:0008467), BROAD TOES(HP:0001837), HYPOPLASTIC/SMALL MIDDLE PHALANX OF THE 5TH FINGER(HP:0004220), POSTERIORLY ROTATED EARS(HP:0000358), APLASIA OF METACARPAL BONES(HP:0010048), SHORT LONG BONES(HP:0003026), MESOMELIA(HP:0003027), CAMPTODACTYLY (HANDS)(HP:0010563), SHORT, UPTURNED NOSE(HP:0000441), BROAD PHALANGES OF THE THUMB(HP:0009651), FRONTAL BOSSING(HP:0002007), MISSING RIBS(HP:0000921), BROAD NASAL BRIDGE(HP:0000431), RIB FUSION(HP:0000902), DECREASED BODY HEIGHT(HP:0004322), NARES, ANTEVERTED(HP:0000463), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
4921	DDR2	[MALAR HYPOPLASIA(HP:0000272), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KNEE CONTRACTURES(HP:0002978), SPINAL CORD COMPRESSION(HP:0002176), CALCIFICATION OF FALX CEREBRI(HP:0005462), HYPERTELORISM(HP:0000316), C1-C2 SUBLUXATION(HP:0003320), PNEUMONIA, RECURRENT EPISODES(HP:0006532), SHORT RIBS(HP:0000773), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), PROMINENT EYES(HP:0000536), ATLANTOAXIAL INSTABILITY(HP:0003467), METATARSUS VARUS(HP:0001840), STIPPLING OF THE EPIPHYSES(HP:0010655), BELL-SHAPED CHEST(HP:0001591), TRACHEAL CALCIFICATIONS(HP:0002787), SMALL CHEST(HP:0001590), PROGRESSIVE CALCIFICATION OF COSTOCHONDRAL CARTILAGE(HP:0006600), SHORT, BROAD TUBULAR BONES(HP:0004983), METAPHYSEAL FLARING(HP:0003015), SHORT LIMB DWARFISM(HP:0003505), SYRINGOMYELIA(HP:0003396), FLARED ILIAC WINGS(HP:0002869), HIGH-ARCHED PALATE(HP:0000156), PLATYSPONDYLY(HP:0000926), MUSCULAR HYPOTONIA(HP:0001252), NASAL HYPOPLASIA(HP:0003196), POSTERIOR RIB CUPPING(HP:0000922), FRONTAL BOSSING(HP:0002007), DEVELOPMENTAL RETARDATION(HP:0001263), DISLOCATED HIPS(HP:0002827), FLATTENED NASAL BRIDGE(HP:0000425), ANTERIOR RIB CUPPING(HP:0000907), ABNORMAL CALCIFICATION OF THE CARPAL BONES(HP:0009164), TRIANGULAR SHAPED DISTAL PHALANGES OF THE HAND(HP:0009875), PNEUMONIA(HP:0002090), RESTRICTIVE LUNG DISEASE(HP:0002091), SMALL HANDS(HP:0001165), ABNORMALITY OF THE NECK(HP:0000464), PECTUS EXCAVATUM(HP:0000767), DISPROPORTIONATELY LONG FIBULAE(HP:0003085), SHORT, WIDE PHALANGES(HP:0006030), MICROGNATHIA(HP:0000210), SHORT, BROAD METACARPALS(HP:0006065), SPONDYLOEPIMETAPHYSEAL DYSPLASIA(HP:0002651), SCOLIOSIS(HP:0002650)]
4935	GPR143	[MACROMELANOSOMES ON EM(HP:0003342), ALBINISM(HP:0001022), PHOTOPHOBIA(HP:0000613), HEAD NODDING(HP:0001361), X-LINKED INHERITANCE(HP:0001417), NYSTAGMUS(HP:0000639), DEPIGMENTED FUNDUS(HP:0007680), IMPAIRED VISION(HP:0000505)]
4942	OAT	[ABNORMAL EMG FINDINGS(HP:0003457), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), BLINDNESS(HP:0000618), METABOLISM ABNORMALITY(HP:0001939), POSTERIOR SUBCAPSULAR CATARACTS(HP:0007787), PROXIMAL MUSCLE WEAKNESS, MILD(HP:0009033), NIGHT BLINDNESS(HP:0000662), PROGRESSIVE CHORIORETINAL DEGENERATION(HP:0007918)]
4948	OCA2	[METABOLISM ABNORMALITY(HP:0001939), IMPAIRED VISION(HP:0000505), ALBINISM(HP:0001022), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FRECKLES IN SUN-EXPOSED AREAS(HP:0007603), NYSTAGMUS(HP:0000639), FRECKLING(HP:0001480)]
4952	OCRL	[OSTEOMALACIA(HP:0002749), CONTRACTURES(HP:0001371), ELEVATED TOTAL CHOLESTEROL(HP:0008154), ELEVATED AMNIOTIC FLUID ALPHA-FETOPROTEIN(HP:0004639), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), CONGENITAL CATARACT(HP:0000519), ELEVATED MATERNAL SERUM ALPHA-FETOPROTEIN(HP:0005984), JOINT HYPERMOBILITY(HP:0001382), KYPHOSIS(HP:0002808), PERIVENTRICULAR CYSTS(HP:0007109), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), AREFLEXIA(HP:0001284), PATHOLOGIC FRACTURE(HP:0002756), NEONATAL HYPOTONIA(HP:0001319), CAMPTODACTYLY (HANDS)(HP:0010563), WRIST SWELLING(HP:0001225), GENU VALGUM(HP:0002857), ELEVATED SERUM ACID PHOSPHATASE(HP:0003148), PROXIMAL RENAL TUBULAR ACIDOSIS(HP:0002049), CONSTIPATION(HP:0002019), SUBCUTANEOUS NODULES(HP:0001482), PLATYSPONDYLY(HP:0000926), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DISLOCATED HIPS(HP:0002827), FAILURE TO THRIVE(HP:0001508), RENAL FANCONI SYNDROME(HP:0001994), BICARBONATURIA(HP:0003646), DENSE, POSTERIOR CORTICAL CATARACT(HP:0007948), DECREASED BODY HEIGHT(HP:0004322), VENTRICULOMEGALY(HP:0002119), X-LINKED RECESSIVE INHERITANCE(HP:0001419), IMPAIRED VISION(HP:0000505), GLAUCOMA(HP:0000501), SCOLIOSIS(HP:0002650), AMINOACIDURIA(HP:0002903), STEREOTYPED, REPETITIVE BEHAVIOUR(HP:0000733), HYPERPHOSPHATURIA(HP:0003109)]
4967	OGDH	[METABOLIC ACIDOSIS(HP:0001942), MUSCULAR HYPOTONIA(HP:0001252), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EARLY DEATH(HP:0001432), INCREASED SERUM LACTATE(HP:0002151), CONGENITAL LACTIC ACIDOSIS(HP:0004902)]
4968	OGG1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MULTIPLE TUMORS(HP:0003008), EARLY ONSET(HP:0003593), ERYTHROCYTOSIS(HP:0001901), PAPILLARY RENAL CELL CARCINOMA(HP:0006766)]
4976	OPA1	[HEARING LOSS, SENSORINEURAL, PROGRESSIVE(HP:0000408), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCOMPLETE PENETRANCE(HP:0003829), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), BLUE-YELLOW DYSCHROMATOPSIA(HP:0000552), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), ATAXIA(HP:0001251), OPTIC ATROPHY(HP:0000648), PATTERN VISUAL EVOKED POTENTIALS SHOW REDUCED AMPLITUDE(HP:0000650), RED-GREEN DYSCHROMATOPSIA(HP:0000642), NYSTAGMUS, HORIZONTAL(HP:0000666), ONSET IN EARLY CHILDHOOD(HP:0003580), ABNORMAL OR ABSENT AUDITORY NERVE AND BRAINSTEM RESPONSES(HP:0004462), PTOSIS(HP:0000508), CENTROCECAL SCOTOMA(HP:0000576), IMPAIRED VISION(HP:0000505), CENTRAL SCOTOMA(HP:0000603), OPHTHALMOPLEGIA(HP:0000602), STRABISMUS(HP:0000486), INSIDIOUS ONSET(HP:0003587)]
4982	TNFRSF11B	[ANGIOID STREAKS(HP:0001102), RETINAL DEGENERATION(HP:0000546), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BOWING OF THE LEGS(HP:0002979), ELEVATED SERUM ACID PHOSPHATASE(HP:0003148), MACROCEPHALY(HP:0000256), OSTEOPOROSIS(HP:0000939), GENU VARUM(HP:0002970), GENU VARUS(HP:0003052), DECREASED BODY HEIGHT(HP:0004322), THICKENED CALVARIA(HP:0002684), HYDROXYPROLINURIA(HP:0003080), HYDROXYPROLINEMIA(HP:0003260), HYPERURICEMIA(HP:0002149), MUSCLE WEAKNESS(HP:0001324), PREMATURE LOSS OF TEETH(HP:0006480), HYPERPHOSPHATEMIA(HP:0002905)]
4983	OPHN1	[LONG FACE(HP:0000276), MACROCEPHALY(HP:0000256), DISORGANIZATION OF THE ANTERIOR CEREBELLAR VERMIS(HP:0007065), CRYPTORCHIDISM(HP:0000028), SCROTAL HYPOPLASIA(HP:0000046), MICROPENIS(HP:0000054), ONSET IN INFANCY(HP:0003576), MANDIBULAR PROGNATHIA(HP:0000303), PROMINENT SUPRAORBITAL RIDGES(HP:0000336), SHORT PHILTRUM(HP:0000322), NYSTAGMUS(HP:0000639), CEREBELLAR HYPOPLASIA(HP:0001321), ENLARGED CISTERNA MAGNA(HP:0002280), HYPOTELORISM(HP:0000601), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), GAIT ATAXIA(HP:0002066), LARGE EARS(HP:0000400), MENTAL RETARDATION, MODERATE TO SEVERE(HP:0002316), RETROCEREBELLAR CYST(HP:0006951), MUSCULAR HYPOTONIA(HP:0001252), FRONTAL BOSSING(HP:0002007), SEIZURES(HP:0001250), MENTAL RETARDATION, MODERATE(HP:0002342), LONG NOSE(HP:0003189), SPASTICITY(HP:0001257), SPEECH DELAY(HP:0002117), VENTRICULOMEGALY(HP:0002119), THIN UPPER LIP(HP:0000219), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPERACTIVITY(HP:0000752), DEEP SET EYES(HP:0000490), STRABISMUS(HP:0000486)]
4990	SIX6	[CATARACT(HP:0000518), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MIOSIS(HP:0000616), NYSTAGMUS(HP:0000639), MICROPHTHALMOS(HP:0000568)]
5002	SLC22A18	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EMBRYONAL RHABDOMYOSARCOMA(HP:0006743), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ALVEOLAR CELL CARCINOMA(HP:0006519), RESPIRATORY ABNORMALITY(HP:0002086), BREAST CANCER(HP:0003002)]
5009	OTC	[HIGH PLASMA GLUTAMINE(HP:0003217), PROTEIN AVOIDANCE(HP:0002038), IRRITABILITY(HP:0000737), X-LINKED RECESSIVE INHERITANCE(HP:0001419), ONSET IN NEONATAL PERIOD(HP:0003623), CEREBRAL EDEMA(HP:0002181), LETHARGY(HP:0001254), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), RESPIRATORY ALKALOSIS(HP:0001950), EPISODIC AMMONIA INTOXICATION(HP:0001951), COMA(HP:0001259), VOMITING(HP:0002013), LOW PLASMA CITRULLINE(HP:0003572), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508)]
5019	OXCT1	[EPISODIC SEVERE KETOACIDOSIS(HP:0005983), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KETONURIA(HP:0002919), SEVERE INTERMITTENT KETOACIDOSIS(HP:0005981), VOMITING(HP:0002013), POLYPNEA(HP:0002874)]
5034	P4HB	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
5053	PAH	[DRY SKIN(HP:0000958), PHENYLALANINE HYDROXYLASE DEFICIENCY(HP:0005982), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PALE PIGMENTATION(HP:0007419), HYPERREFLEXIA(HP:0001347), CATARACT(HP:0000518), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), PHENYLPYRUVIC ACIDEMIA(HP:0004920), HYPERPHENYLALANINEMIA(HP:0004923), BLOND HAIR(HP:0002214), IRRITABILITY(HP:0000737), PRENATAL MATERNAL ABNORMALITY(HP:0002686), BLUE IRIDES(HP:0000635), CEREBRAL CALCIFICATION(HP:0002514), MICROCEPHALY(HP:0000252), ECZEMA(HP:0000964)]
5054	SERPINE1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BLEEDING DIATHESIS(HP:0001892)]
5063	PAK3	[DELAYED GROSS MOTOR DEVELOPMENT(HP:0002194), MENTAL RETARDATION, MILD TO SEVERE(HP:0002458), VARIABLE SEVERITY(HP:0003814), EPILEPSY(HP:0001275), MENTAL RETARDATION, BORDERLINE-MILD(HP:0007119), ANXIETY(HP:0000739), SHORT ATTENTION SPAN(HP:0000736), SPEECH DELAY(HP:0002117), HIGH PALATE(HP:0000218), THIN UPPER LIP(HP:0000219), X-LINKED RECESSIVE INHERITANCE(HP:0001419), AGGRESSIVE BEHAVIOR(HP:0000718), PSYCHOSIS(HP:0000709), RESTLESSNESS(HP:0000711), MICROCEPHALY(HP:0000252), MENTAL RETARDATION, BORDERLINE(HP:0006889), ABNORMALITY OF THE EARS(HP:0000598), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
5069	PAPPA	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
5071	PARK2	[TREMOR(HP:0001337), BRADYKINESIA(HP:0002067), NEURONAL LOSS(HP:0002400), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERREFLEXIA MAY OCCUR(HP:0007184), ONSET BEFORE AGE 2 YEARS(HP:0003667), POSTURAL INSTABILITY(HP:0002172), GLIOSIS(HP:0002171), DYSTONIA(HP:0001332), PARKINSONISM(HP:0001300), GAIT DISTURBANCE(HP:0001288), ONSET BEFORE AGE 40 YEARS(HP:0003598), ALVEOLAR CELL CARCINOMA(HP:0006519), RESPIRATORY ABNORMALITY(HP:0002086), RIGIDITY(HP:0002063)]
5076	PAX2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEARING LOSS, SENSORINEURAL(HP:0000407), MICROPHTHALMOS(HP:0000568), MENTAL RETARDATION(HP:0001249), ARNOLD-CHIARI TYPE I MALFORMATION(HP:0007099), ORBITAL CYSTS(HP:0001144), EPILEPSY(HP:0001275), END STAGE RENAL DISEASE(HP:0003774), VESICOURETERAL REFLUX(HP:0000076), PROTEINURIA(HP:0000093), RENAL HYPOPLASIA(HP:0000089), OPTIC NERVE COLOBOMA(HP:0000588), RETINAL COLOBOMA(HP:0000480)]
5077	PAX3	[HETEROCHROMIA IRIDIS(HP:0001100), WHITE EYEBROWS AND EYELASHES(HP:0004536), MALAR HYPOPLASIA(HP:0000272), CONTRACTURES(HP:0001371), SYNDACTYLY(HP:0001159), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CLEFT LIP/PALATE(HP:0000202), HYPOPLASIA OF THE MAXILLA(HP:0000327), SCAPULAR WINGING(HP:0003691), CONGENITAL MEGACOLON(HP:0002251), HYPOPIGMENTED FUNDI(HP:0001487), CONGENITAL PARTIAL ALBINISM (LEUCODERMA) ON FACE, TRUNK, OR LIMBS(HP:0001044), ABSENT VAGINA(HP:0003250), NASAL HYPOPLASIA(HP:0003196), BLEPHAROPHIMOSIS(HP:0000581), TELECANTHUS(HP:0000506), MENTAL RETARDATION(HP:0001249), ALVEOLAR RHABDOMYOSARCOMA(HP:0006779), SPINA BIFIDA(HP:0002414), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), SUPERNUMERARY VERTEBRAE(HP:0002946), SPASTIC PARAPLEGIA(HP:0001258), HYPERTELORISM(HP:0000316), FLAT PHILTRUM(HP:0000319), SPRENGEL ANOMALY(HP:0000912), SUPERNUMERARY RIBS(HP:0005815), SYNOSTOSIS INVOLVING THE CARPAL BONES(HP:0009702), MICROCEPHALY(HP:0000252), PREMATURE GRAYING OF HAIR(HP:0002216), SYNOPHRYS(HP:0000664), BROAD NASAL BRIDGE(HP:0000431), CONGENITAL SENSORINEURAL DEAFNESS(HP:0008620), HYPOPLASTIC NASAL ALAE(HP:0000430), WHITE FORELOCK(HP:0002211), PARTIAL ALBINISM(HP:0007443), HYPOPLASTIC IRIS STROMA(HP:0007990), AUTOSOMAL DOMINANT CONTIGUOUS GENE SYNDROME(HP:0001452), MANDIBULAR PROGNATHIA(HP:0000303)]
5078	PAX4	[NONINSULIN-DEPENDENT DIABETES MELLITUS(HP:0005978), MULTIFACTORIAL(HP:0001426), INSULIN RESISTANCE(HP:0000855), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715), KETOACIDOSIS(HP:0001993), LATE ONSET(HP:0003584), BETA-CELL DYSFUNCTION(HP:0006279)]
5080	PAX6	[OPTIC NERVE HYPOPLASIA(HP:0000609), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONGENITAL NYSTAGMUS(HP:0006934), HEREDITARY CHILDHOOD CORNEAL CLOUDING(HP:0007966), COLOBOMA OF IRIS, CHOROID AND RETINA(HP:0007748), PRESENILE CATARACTS(HP:0007819), FOVEAL HYPOPLASIA(HP:0007750), SUBNORMAL VISUAL ACUITY(HP:0007860), GLAUCOMA(HP:0000501), ANIRIDIA(HP:0000526), BILATERAL COLOBOMA OF OPTIC NERVE(HP:0007997), DETACHED RETINA(HP:0000541)]
5081	PAX7	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ALVEOLAR RHABDOMYOSARCOMA(HP:0006779)]
5087	PBX1	[HUMAN PRE-B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA(HP:0004812), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
5091	PC	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCREASED SERUM PYRUVATE(HP:0003542), PROXIMAL RENAL TUBULAR ACIDOSIS(HP:0002049), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), ONSET AT BIRTH(HP:0003577), PERIVENTRICULAR LEUKOMALACIA(HP:0006970), MITOCHONDRIAL INHERITANCE(HP:0001427), HEPATOMEGALY(HP:0002240), HYPERALANINEMIA(HP:0003348), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), NEURONAL LOSS(HP:0002400), RENAL TUBULAR ACIDOSIS(HP:0001947), CLONUS(HP:0002169), NEURONAL LOSS IN THE CEREBRAL CORTEX(HP:0007190), INCREASED SERUM LACTATE(HP:0002151)]
5092	PCBD1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TRANSIENT HYPERPHENYLALANINEMIA(HP:0008297)]
5095	PCCA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CARDIOMYOPATHY(HP:0001638), MITOCHONDRIAL PROPIONYL-COA CARBOXYLASE (PCC) DEFECT(HP:0003288), POOR APPETITE(HP:0004396), ACUTE ENCEPHALOPATHY(HP:0006846), NEUTROPENIA(HP:0001875), PANCYTOPENIA(HP:0001876), PROPIONICACIDEMIA(HP:0003571), LIMB HYPERTONIA(HP:0002509), PUFFY CHEEKS(HP:0002262), EXAGGERATED CUPID'S BOW UPPER LIP(HP:0002263), HEPATOMEGALY(HP:0002240), TACHYPNEA(HP:0002789), DYSTONIA(HP:0001332), MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), ABNORMALITY OF THE SKIN(HP:0000951), OSTEOPOROSIS(HP:0000939), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL ATROPHY(HP:0002059), LETHARGY(HP:0001254), PANCREATITIS(HP:0001733), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), APNEA(HP:0002104), COMA(HP:0001259), VOMITING(HP:0002013), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508), INTOLERANCE TO PROTEIN(HP:0001984), MITOCHONDRIAL INHERITANCE(HP:0001427), DECREASED BODY HEIGHT(HP:0004322), PROPIONYL-COA CARBOXYLASE DEFICIENCY(HP:0003353), METABOLIC ACIDOSIS(HP:0001942), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), KETOSIS(HP:0001946), DEHYDRATION(HP:0001944), DECREASED IGG LEVEL(HP:0004315), HYPERGLYCINEMIA(HP:0002154), HYPERGLYCINURIA(HP:0003108)]
5096	PCCB	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CARDIOMYOPATHY(HP:0001638), MITOCHONDRIAL PROPIONYL-COA CARBOXYLASE (PCC) DEFECT(HP:0003288), POOR APPETITE(HP:0004396), ACUTE ENCEPHALOPATHY(HP:0006846), NEUTROPENIA(HP:0001875), PANCYTOPENIA(HP:0001876), PROPIONICACIDEMIA(HP:0003571), LIMB HYPERTONIA(HP:0002509), PUFFY CHEEKS(HP:0002262), EXAGGERATED CUPID'S BOW UPPER LIP(HP:0002263), HEPATOMEGALY(HP:0002240), TACHYPNEA(HP:0002789), DYSTONIA(HP:0001332), MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), ABNORMALITY OF THE SKIN(HP:0000951), OSTEOPOROSIS(HP:0000939), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL ATROPHY(HP:0002059), LETHARGY(HP:0001254), PANCREATITIS(HP:0001733), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), APNEA(HP:0002104), COMA(HP:0001259), VOMITING(HP:0002013), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508), INTOLERANCE TO PROTEIN(HP:0001984), MITOCHONDRIAL INHERITANCE(HP:0001427), DECREASED BODY HEIGHT(HP:0004322), PROPIONYL-COA CARBOXYLASE DEFICIENCY(HP:0003353), METABOLIC ACIDOSIS(HP:0001942), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), KETOSIS(HP:0001946), DEHYDRATION(HP:0001944), DECREASED IGG LEVEL(HP:0004315), HYPERGLYCINEMIA(HP:0002154), HYPERGLYCINURIA(HP:0003108)]
5105	PCK1	[HYPOGLYCEMIA(HP:0001943), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEPATIC STEATOSIS(HP:0001397), FATTY KIDNEYS(HP:0000799), HEPATIC FAILURE(HP:0001399), IMPAIRED GLUCONEOGENESIS(HP:0005959)]
5106	PCK2	[HYPOGLYCEMIA(HP:0001943), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEPATIC STEATOSIS(HP:0001397), FATTY KIDNEYS(HP:0000799), HEPATIC FAILURE(HP:0001399), IMPAIRED GLUCONEOGENESIS(HP:0005959)]
5108	PCM1	[AGE OF ONSET(HP:0003674), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PAPILLARY THYROID CARCINOMA(HP:0002895), SPORADIC(HP:0003745)]
5116	PCNT	[DELAYED SKELETAL MATURATION(HP:0002750), NONINSULIN-DEPENDENT DIABETES MELLITUS(HP:0005978), RETROGNATHIA(HP:0000278), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPLASTIC/SHORT 1ST METACARPAL(HP:0010034), BOWING OF THE LEGS(HP:0002979), PRECOCIOUS PUBERTY(HP:0000826), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), HYPOSPADIAS(HP:0000047), GENU VARUM(HP:0002970), HYPERMETROPIA(HP:0000540), SPARSE SCALP HAIR(HP:0002209), HIGH PITCHED VOICE(HP:0001620), SLOPING FOREHEAD(HP:0000340), GENU VARUS(HP:0003052), COXA VARA(HP:0002812), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), UPSLANTING PALPEBRAL FISSURES(HP:0000582), SHORT STATURE, DISPROPORTIONATE(HP:0003498), METAPHYSEAL FLARING(HP:0003015), CAFE-AU-LAIT SPOTS(HP:0000957), SMALL EARS(HP:0000409), PSEUDOEPIPHYSES OF THE METACARPALS(HP:0009193), PROXIMAL FEMORAL EPIPHYSIOLYSIS(HP:0006461), PROMINENT NASAL ROOT(HP:0000432), DEVELOPMENTAL RETARDATION(HP:0001263), MENTAL RETARDATION, MILD(HP:0001256), INTRAUTERINE GROWTH RETARDATION(HP:0001511), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), SMALL ILIAC WINGS(HP:0003169), TRUNCAL OBESITY(HP:0001956), MICROCEPHALY(HP:0000252)]
5122	PCSK1	[PHENOTYPIC VARIABILITY(HP:0003812), MALABSORPTION(HP:0002024), ISOLATED CASES(HP:0001420), HYPOCORTISOLEMIA(HP:0008220), HYPOGLYCEMIA(HP:0001943), PRIMARY AMENORRHEA(HP:0000786), DIARRHEA(HP:0002014), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), OBESITY(HP:0001513)]
5155	PDGFB	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MENINGIOMA(HP:0002858)]
5156	PDGFRA	[SOMATIC MUTATION(HP:0001428), ENDOCARDIAL FIBROSIS(HP:0006685), PULMONARY INFILTRATES(HP:0002113), VENOUS THROMBOSIS(HP:0004936), RESTRICTIVE CARDIOMYOPATHY(HP:0001723), HEPATOMEGALY(HP:0002240), ISOLATED CASES(HP:0001420), EOSINOPHILIA(HP:0001880), PRURITUS(HP:0000989), IMMUNOLOGICAL ABNORMALITY(HP:0002715), MYALGIA(HP:0003326), NEUROLOGICAL ABNORMALITY(HP:0000707), SPLENOMEGALY(HP:0001744)]
5157	PDGFRL	[HETEROGENEOUS(HP:0001425), SUBACUTE PROGRESSIVE VIRAL HEPATITIS(HP:0006572), TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), METABOLISM ABNORMALITY(HP:0001939), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEPATOCELLULAR CARCINOMA(HP:0001402), UTERINE LEIOMYOSARCOMA(HP:0002891), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716), MICRONODULAR CIRRHOSIS(HP:0001413)]
5158	PDE6B	[AUTOSOMAL DOMINANT CONGENITAL STATIONARY NIGHT BLINDNESS(HP:0007861), METABOLISM ABNORMALITY(HP:0001939), ABNORMAL ROD AND CONE ELECTRORETINOGRAMS(HP:0008323), CONGENITAL NIGHT BLINDNESS(HP:0007684), CONGENITAL STATIONARY NIGHT BLINDNESS(HP:0007642), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
5159	PDGFRB	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYELOPROLIFERATIVE DISORDER(HP:0005547), MALIGNANT EOSINOPHIL PROLIFERATION(HP:0006782)]
5160	PDHA1	[CHOREA(HP:0002072), BASAL GANGLIA CYSTS(HP:0006799), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL ATROPHY(HP:0002059), NEURODEGENERATION(HP:0002180), APNEIC EPISODES PRECIPITATED BY ILLNESS, FATIGUE, STRESS(HP:0002872), PSYCHOMOTOR RETARDATION(HP:0001255), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), FRONTAL BOSSING(HP:0002007), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), LACTIC ACIDOSIS, CHRONIC(HP:0004925), SPASTICITY(HP:0001257), LACTIC ACIDOSIS, SEVERE(HP:0004900), INCREASED CSF LACTATE(HP:0002490), UPTURNED NOSE(HP:0000427), CHOREOATHETOSIS(HP:0001266), BROAD NASAL BRIDGE(HP:0000431), LOW BIRTH WEIGHT(HP:0001518), AGENESIS OF CORPUS CALLOSUM(HP:0001274), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), LONG PHILTRUM(HP:0000343), HYPOKINESIA(HP:0002375), ATAXIA, EPISODIC(HP:0002131), DECREASED ACTIVITY OF THE PYRUVATE DEHYDROGENASE (PDH) COMPLEX(HP:0002928), VENTRICULOMEGALY(HP:0002119), X-LINKED RECESSIVE INHERITANCE(HP:0001419), FLARED NOSTRILS(HP:0000454), NYSTAGMUS(HP:0000639), X-LINKED DOMINANT INHERITANCE(HP:0001423), HYPERALANINEMIA(HP:0003348), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), RESPIRATORY DIFFICULTIES(HP:0002880), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), DYSTONIA(HP:0001332), INCREASED SERUM LACTATE(HP:0002151), MICROCEPHALY(HP:0000252), DEMYELINATION(HP:0003381)]
5167	ENPP1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYELOPATHY(HP:0002196), MYOCARDIAL INFARCTION(HP:0001658), CORONARY ARTERY CALCIFICATION(HP:0001717), SPINAL CORD COMPRESSION(HP:0002176), HYPERREFLEXIA(HP:0001347), ARTERIAL CALCIFICATION, GENERALIZED(HP:0004940), ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925), GROWTH ABNORMALITY(HP:0001507), OSTEOSCLEROSIS(HP:0010738)]
5172	SLC26A4	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), COMPENSATED HYPOTHYROIDISM(HP:0008223), METABOLISM ABNORMALITY(HP:0001939), GOITER(HP:0000853), MENTAL RETARDATION(HP:0001249), THYROID CARCINOMA(HP:0002890), VESTIBULAR DYSFUNCTION(HP:0001751), CONGENITAL SENSORINEURAL DEAFNESS(HP:0008620), COCHLEAR MALFORMATION(HP:0008554)]
5184	PEPD	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CRUSTING ERYTHEMATOUS DERMATITIS(HP:0007473), SYSTEMIC LUPUS ERYTHEMATOSUS(HP:0002725), PTOSIS(HP:0000508), RECURRENT INFECTIONS(HP:0002719), METABOLISM ABNORMALITY(HP:0001939), DEVELOPMENTAL RETARDATION(HP:0001263), PROPTOSIS(HP:0000520), DIFFUSE TELANGIECTASES(HP:0007489)]
5189	PEX1	[DELAYED SKELETAL MATURATION(HP:0002750), PATENT DUCTUS ARTERIOSUS(HP:0001643), MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), BRUSHFIELD SPOTS(HP:0001088), EPICANTHUS(HP:0000286), MACROCEPHALY(HP:0000256), ESOTROPIA(HP:0000565), PROLONGED NEONATAL JAUNDICE(HP:0006579), CRYPTORCHIDISM(HP:0000028), DOLICHOCEPHALY(HP:0000268), CATARACT(HP:0000518), OCCIPITAL PLAGIOCEPHALY(HP:0005469), INTRAHEPATIC BILIARY DYSGENESIS(HP:0001401), ABNORMAL ELECTRORETINOGRAM(HP:0000512), ROUND FACE(HP:0000311), VERY LONG CHAIN FATTY ACID ACCUMULATION(HP:0008167), CORNEAL CLOUDING(HP:0000515), DECREASED DEEP TENDON REFLEXES(HP:0002467), REDUNDANT SKIN FOLDS(HP:0007391), HYPERTELORISM(HP:0000316), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), HEMATOLOGICAL ABNORMALITY(HP:0001871), REDUNDANT SKIN FOLDS OF NECK(HP:0005996), CUBITUS VALGUS(HP:0002967), PALE OPTIC DISKS(HP:0000543), CLITOROMEGALY(HP:0000057), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), MINOR FACIAL DYSMORPHISM(HP:0004675), HIGH FOREHEAD(HP:0000348), METATARSUS VARUS(HP:0001840), STIPPLING OF THE EPIPHYSES(HP:0010655), BELL-SHAPED CHEST(HP:0001591), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), LOW-SET EARS(HP:0000369), PIGMENTARY RETINOPATHY(HP:0000580), UPSLANTING PALPEBRAL FISSURES(HP:0000582), ABNORMALITY OF THE HELIX(HP:0000380), ADRENAL HYPOPLASIA(HP:0000835), POSTERIORLY ROTATED EARS(HP:0000358), HYPOPLASTIC OLFACTORY LOBES(HP:0006894), HETEROTOPIA(HP:0002282), HYDRONEPHROSIS(HP:0000126), ADRENAL INSUFFICIENCY(HP:0000846), RENAL CORTICAL MICROCYSTS(HP:0004734), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), TALIPES EQUINOVARUS(HP:0001762), TRANSVERSE PALMAR CREASES(HP:0000954), HEARING LOSS, SENSORINEURAL(HP:0000407), HIGH-ARCHED PALATE(HP:0000156), OSTEOPOROSIS(HP:0000939), HYPOCHOLESTEROLEMIA(HP:0003146), MACROGLOSSIA(HP:0000158), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), POLYNEUROPATHY(HP:0001271), FAILURE TO THRIVE(HP:0001508), BROAD NASAL BRIDGE(HP:0000431), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), HYPOREFLEXIA(HP:0001265), PULMONARY HYPOPLASIA(HP:0002089), STEATORRHEA(HP:0002570), HYPOKINESIA(HP:0002375), NARES, ANTEVERTED(HP:0000463), FLAT NOSE(HP:0000457), CONGENITAL VERTICAL TALUS(HP:0010218), POLYMICROGYRIA(HP:0002126), MICROGNATHIA(HP:0000210), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), AMINOACIDURIA(HP:0002903), SUBEPENDYMAL CYSTS(HP:0002416), BRACHYTURRICEPHALY(HP:0000244)]
5191	PEX7	[KYPHOSCOLIOSIS(HP:0002751), JOINT CONTRACTURES(HP:0001372), MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), CONGENITAL CATARACT(HP:0000519), RHIZOMELIC SHORTENING(HP:0002968), MIOSIS(HP:0000616), SHORT FOURTH METATARSALS(HP:0004689), ALOPECIA(HP:0001596), UPSLANTING PALPEBRAL FISSURES(HP:0000582), METAPHYSEAL FLARING(HP:0003015), SEVERE DELAY IN MYELINATION(HP:0007300), ABNORMALITY OF THE CEREBELLUM(HP:0001317), ICHTHYOSIS(HP:0000955), HEARING LOSS, SENSORINEURAL(HP:0000407), CALCIFIC STIPPLING OF INFANTILE CARTILAGINOUS SKELETON(HP:0005841), CORONAL CLEFT VERTEBRAE(HP:0003417), SEVERE FAILURE TO THRIVE(HP:0001525), CLEFT PALATE(HP:0000175), ATAXIA(HP:0001251), FRONTAL BOSSING(HP:0002007), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), SPASTICITY(HP:0001257), LOW NASAL BRIDGE(HP:0000428), DWARFISM(HP:0001516), RESPIRATORY INSUFFICIENCY(HP:0002093), ANOSMIA(HP:0000458), CEREBRAL CORTICAL ATROPHY(HP:0002120), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), RETINITIS PIGMENTOSA(HP:0000510), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), METABOLISM ABNORMALITY(HP:0001939), MULTIPLE EPIPHYSEAL DYSPLASIA(HP:0002654), MICROCEPHALY(HP:0000252)]
5192	PEX10	[DELAYED SKELETAL MATURATION(HP:0002750), PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BRUSHFIELD SPOTS(HP:0001088), ESOTROPIA(HP:0000565), PROLONGED NEONATAL JAUNDICE(HP:0006579), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), OCCIPITAL PLAGIOCEPHALY(HP:0005469), ABNORMAL ELECTRORETINOGRAM(HP:0000512), CORNEAL CLOUDING(HP:0000515), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), REDUNDANT SKIN FOLDS OF NECK(HP:0005996), CLITOROMEGALY(HP:0000057), PALE OPTIC DISKS(HP:0000543), BELL-SHAPED CHEST(HP:0001591), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), PIGMENTARY RETINOPATHY(HP:0000580), UPSLANTING PALPEBRAL FISSURES(HP:0000582), HETEROTOPIA(HP:0002282), HYDRONEPHROSIS(HP:0000126), TALIPES EQUINOVARUS(HP:0001762), HIGH-ARCHED PALATE(HP:0000156), MACROGLOSSIA(HP:0000158), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), HYPOREFLEXIA(HP:0001265), PULMONARY HYPOPLASIA(HP:0002089), POLYMICROGYRIA(HP:0002126), MICROGNATHIA(HP:0000210), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), BRACHYTURRICEPHALY(HP:0000244), MALAR HYPOPLASIA(HP:0000272), EPICANTHUS(HP:0000286), MACROCEPHALY(HP:0000256), DOLICHOCEPHALY(HP:0000268), INTRAHEPATIC BILIARY DYSGENESIS(HP:0001401), ROUND FACE(HP:0000311), REDUNDANT SKIN FOLDS(HP:0007391), HYPERTELORISM(HP:0000316), CUBITUS VALGUS(HP:0002967), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), HIGH FOREHEAD(HP:0000348), METATARSUS VARUS(HP:0001840), STIPPLING OF THE EPIPHYSES(HP:0010655), LOW-SET EARS(HP:0000369), ABNORMALITY OF THE HELIX(HP:0000380), ADRENAL HYPOPLASIA(HP:0000835), POSTERIORLY ROTATED EARS(HP:0000358), HYPOPLASTIC OLFACTORY LOBES(HP:0006894), RENAL CORTICAL MICROCYSTS(HP:0004734), ADRENAL INSUFFICIENCY(HP:0000846), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), TRANSVERSE PALMAR CREASES(HP:0000954), HEARING LOSS, SENSORINEURAL(HP:0000407), FAILURE TO THRIVE(HP:0001508), ELEVATED LONG CHAIN FATTY ACIDS(HP:0003455), BROAD NASAL BRIDGE(HP:0000431), HYPOKINESIA(HP:0002375), NARES, ANTEVERTED(HP:0000463), CONGENITAL VERTICAL TALUS(HP:0010218), GLAUCOMA(HP:0000501), AMINOACIDURIA(HP:0002903), SUBEPENDYMAL CYSTS(HP:0002416)]
5194	PEX13	[DELAYED SKELETAL MATURATION(HP:0002750), PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BRUSHFIELD SPOTS(HP:0001088), ESOTROPIA(HP:0000565), PROLONGED NEONATAL JAUNDICE(HP:0006579), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), OCCIPITAL PLAGIOCEPHALY(HP:0005469), ABNORMAL ELECTRORETINOGRAM(HP:0000512), CORNEAL CLOUDING(HP:0000515), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), REDUNDANT SKIN FOLDS OF NECK(HP:0005996), CLITOROMEGALY(HP:0000057), PALE OPTIC DISKS(HP:0000543), BELL-SHAPED CHEST(HP:0001591), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), PIGMENTARY RETINOPATHY(HP:0000580), UPSLANTING PALPEBRAL FISSURES(HP:0000582), HETEROTOPIA(HP:0002282), HYDRONEPHROSIS(HP:0000126), TALIPES EQUINOVARUS(HP:0001762), HIGH-ARCHED PALATE(HP:0000156), MACROGLOSSIA(HP:0000158), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), HYPOREFLEXIA(HP:0001265), PULMONARY HYPOPLASIA(HP:0002089), POLYMICROGYRIA(HP:0002126), MICROGNATHIA(HP:0000210), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), BRACHYTURRICEPHALY(HP:0000244), MALAR HYPOPLASIA(HP:0000272), EPICANTHUS(HP:0000286), MACROCEPHALY(HP:0000256), DOLICHOCEPHALY(HP:0000268), INTRAHEPATIC BILIARY DYSGENESIS(HP:0001401), ROUND FACE(HP:0000311), REDUNDANT SKIN FOLDS(HP:0007391), HYPERTELORISM(HP:0000316), CUBITUS VALGUS(HP:0002967), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), HIGH FOREHEAD(HP:0000348), METATARSUS VARUS(HP:0001840), STIPPLING OF THE EPIPHYSES(HP:0010655), LOW-SET EARS(HP:0000369), ABNORMALITY OF THE HELIX(HP:0000380), ADRENAL HYPOPLASIA(HP:0000835), POSTERIORLY ROTATED EARS(HP:0000358), HYPOPLASTIC OLFACTORY LOBES(HP:0006894), RENAL CORTICAL MICROCYSTS(HP:0004734), ADRENAL INSUFFICIENCY(HP:0000846), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), TRANSVERSE PALMAR CREASES(HP:0000954), HEARING LOSS, SENSORINEURAL(HP:0000407), FAILURE TO THRIVE(HP:0001508), ELEVATED LONG CHAIN FATTY ACIDS(HP:0003455), BROAD NASAL BRIDGE(HP:0000431), HYPOKINESIA(HP:0002375), NARES, ANTEVERTED(HP:0000463), CONGENITAL VERTICAL TALUS(HP:0010218), GLAUCOMA(HP:0000501), AMINOACIDURIA(HP:0002903), SUBEPENDYMAL CYSTS(HP:0002416)]
5195	PEX14	[DELAYED SKELETAL MATURATION(HP:0002750), PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BRUSHFIELD SPOTS(HP:0001088), PROLONGED NEONATAL JAUNDICE(HP:0006579), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), OCCIPITAL PLAGIOCEPHALY(HP:0005469), ABNORMAL ELECTRORETINOGRAM(HP:0000512), CORNEAL CLOUDING(HP:0000515), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), REDUNDANT SKIN FOLDS OF NECK(HP:0005996), CLITOROMEGALY(HP:0000057), PALE OPTIC DISKS(HP:0000543), BELL-SHAPED CHEST(HP:0001591), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), PIGMENTARY RETINOPATHY(HP:0000580), UPSLANTING PALPEBRAL FISSURES(HP:0000582), HETEROTOPIA(HP:0002282), HYDRONEPHROSIS(HP:0000126), TALIPES EQUINOVARUS(HP:0001762), HIGH-ARCHED PALATE(HP:0000156), MACROGLOSSIA(HP:0000158), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), HYPOREFLEXIA(HP:0001265), PULMONARY HYPOPLASIA(HP:0002089), POLYMICROGYRIA(HP:0002126), MICROGNATHIA(HP:0000210), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), BRACHYTURRICEPHALY(HP:0000244), MALAR HYPOPLASIA(HP:0000272), EPICANTHUS(HP:0000286), MACROCEPHALY(HP:0000256), INTRAHEPATIC BILIARY DYSGENESIS(HP:0001401), ROUND FACE(HP:0000311), REDUNDANT SKIN FOLDS(HP:0007391), HYPERTELORISM(HP:0000316), CUBITUS VALGUS(HP:0002967), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), HIGH FOREHEAD(HP:0000348), METATARSUS VARUS(HP:0001840), STIPPLING OF THE EPIPHYSES(HP:0010655), ABNORMALITY OF THE HELIX(HP:0000380), ADRENAL HYPOPLASIA(HP:0000835), POSTERIORLY ROTATED EARS(HP:0000358), HYPOPLASTIC OLFACTORY LOBES(HP:0006894), RENAL CORTICAL MICROCYSTS(HP:0004734), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), TRANSVERSE PALMAR CREASES(HP:0000954), HEARING LOSS, SENSORINEURAL(HP:0000407), FAILURE TO THRIVE(HP:0001508), ELEVATED LONG CHAIN FATTY ACIDS(HP:0003455), HYPOKINESIA(HP:0002375), NARES, ANTEVERTED(HP:0000463), CONGENITAL VERTICAL TALUS(HP:0010218), GLAUCOMA(HP:0000501), AMINOACIDURIA(HP:0002903), SUBEPENDYMAL CYSTS(HP:0002416)]
5199	CFP	[METABOLISM ABNORMALITY(HP:0001939), DYSFUNCTIONAL ALTERNATIVE COMPLEMENT PATHWAY(HP:0005423), X-LINKED RECESSIVE INHERITANCE(HP:0001419)]
5205	ATP8B1	[BILIARY CIRRHOSIS(HP:0002613), HETEROGENEOUS(HP:0001425), JAUNDICE(HP:0000952), INTRAHEPATIC CHOLESTASIS WITH EPISODIC JAUNDICE(HP:0006575), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MALABSORPTION(HP:0002024), VARIABLE AGE AT ONSET(HP:0003618), HEPATOMEGALY(HP:0002240), PANCREATITIS(HP:0001733), PRURITUS(HP:0000989), DIARRHEA(HP:0002014), CIRRHOSIS(HP:0001394), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), DWARFISM(HP:0001516), ONSET IN EARLY INFANCY(HP:0003591), CONJUGATED HYPERBILIRUBINEMIA(HP:0002908)]
5207	PFKFB1	[METABOLISM ABNORMALITY(HP:0001939), X-LINKED INHERITANCE(HP:0001417)]
5213	PFKM	[ABNORMALITY OF THE FEET(HP:0001760), JAUNDICE(HP:0000952), MUSCLE CRAMPS WITH EXERCISE(HP:0003710), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE SEVERITY(HP:0003814), EXERCISE INTOLERANCE(HP:0003546), INCREASED MUSCLE GLYCOGEN CONTENT(HP:0009051), HEMOLYTIC ANEMIA(HP:0001878), INCREASED TOTAL BILIRUBIN(HP:0003573), ONSET IN ADULTHOOD(HP:0003581), GOUT(HP:0001997), MYOGLOBINURIA(HP:0002913), CHOLELITHIASIS(HP:0001081), HYPERURICEMIA(HP:0002149), RETICULOCYTOSIS(HP:0001923), MUSCLE WEAKNESS(HP:0001324)]
5224	PGAM2	[MYOPATHY(HP:0003198), MYOGLOBINURIA(HP:0002913), MUSCLE CRAMPS WITH EXERCISE(HP:0003710), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EXERCISE-INDUCED MYALGIA(HP:0003738), INCREASED SERUM CREATINE KINASE(HP:0002147), RENAL FAILURE(HP:0000083)]
5226	PGD	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
5230	PGK1	[MUSCLE CRAMPS WITH EXERCISE(HP:0003710), RETINAL DYSTROPHY(HP:0000556), HIGHLY VARIABLE PHENOTYPE(HP:0003815), VISUAL LOSS(HP:0000572), DECREASED HEMOGLOBIN(HP:0003136), EXERCISE INTOLERANCE(HP:0003546), MYOPATHY(HP:0003198), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), MYOGLOBINURIA(HP:0002913), HYPOKINESIA(HP:0002375), RHABDOMYOLYSIS(HP:0003201), SPEECH DELAY(HP:0002117), POIKILOCYTIC HEMOLYTIC ANEMIA(HP:0004827), RENAL FAILURE(HP:0000083), X-LINKED RECESSIVE INHERITANCE(HP:0001419), VARIABLE AGE AT ONSET(HP:0003618), EMOTIONAL LABILITY(HP:0000712), RETICULOCYTOSIS(HP:0001923), NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930)]
5241	PGR	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FEMALE INFERTILITY(HP:0008222)]
5244	ABCB4	[CHOLECYSTITIS(HP:0001082), CHOLELITHIASIS(HP:0001081), ABNORMALITY OF THE SKIN(HP:0000951)]
5245	PHB	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SOMATIC MUTATION(HP:0001428), NEOPLASIA(HP:0002664)]
5251	PHEX	[TRAPEZOIDAL DISTAL FEMORAL CONDYLES(HP:0006432), RICKETS(HP:0002748), OSTEOMALACIA(HP:0002749), CURVATURES OF THE FEMUR, TIBIA, FIBULA(HP:0002976), HEARING LOSS, SENSORINEURAL(HP:0000407), BOWING OF THE LEGS(HP:0002979), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), FLATTENING OF THE TALAR DOME(HP:0008144), HIGHLY VARIABLE PHENOTYPE(HP:0003815), SPINAL CORD COMPRESSION(HP:0002176), HYPOPHOSPHATEMIC RICKETS(HP:0004912), FRONTAL BOSSING(HP:0002007), ARTHRALGIA(HP:0002829), SPINAL STENOSIS(HP:0008446), HYPOMINERALIZATION OF ENAMEL(HP:0006285), OSTEOARTHRITIS, MORE COMMON IN ADULTS(HP:0005762), DECREASED BODY HEIGHT(HP:0004322), X-LINKED DOMINANT INHERITANCE(HP:0001423), FRAYED, IRREGULAR METAPHYSES(HP:0003017), ABNORMALITY OF THE PELVIS(HP:0002644), BONE PAIN(HP:0002653), SHORTENING OF THE TALAR NECK(HP:0008117), DECREASED RENAL TUBULAR PHOSPHATE REABSORPTION(HP:0000117), RENAL TUBULAR DYSFUNCTION(HP:0000124)]
5255	PHKA1	[HYPOKINESIA(HP:0002375), VARIABLE AGE AT ONSET (CHILDHOOD TO ADULT)(HP:0003630), AMYOTROPHY(HP:0003202), DISTAL MUSCLE WEAKNESS(HP:0002460), X-LINKED RECESSIVE INHERITANCE(HP:0001419), EXERCISE INTOLERANCE(HP:0003546), INCREASED CREATINE KINASE(HP:0003078), VARIABLE MUSCLE CRAMPS ON EXERTION(HP:0009000), EXERCISE-INDUCED MYALGIA(HP:0003738), MIDDLE AGE ONSET(HP:0003596), EXERCISE-INDUCED MUSCLE STIFFNESS(HP:0008967), MYOGLOBINURIA, EXERCISE-INDUCED(HP:0008305), INCREASED SERUM CREATINE KINASE(HP:0002147), ONSET IN ADULTHOOD(HP:0003581)]
5256	PHKA2	[VARIABLE HYPOGLYCEMIA(HP:0003356), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HEPATOMEGALY(HP:0002240), MILD MOTOR DEVELOPMENT DELAY(HP:0006909), MILD ELEVATION OF TRIGLYCERIDES(HP:0008174), MILD ELEVATION OF CHOLESTEROL(HP:0008359), GROWTH RETARDATION(HP:0001510)]
5257	PHKB	[MUSCULAR HYPOTONIA(HP:0001252), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DIARRHEA(HP:0002014), GROWTH ABNORMALITY(HP:0001507), HEPATOMEGALY(HP:0002240)]
5264	PHYH	[ICHTHYOSIS(HP:0000955), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), HEARING LOSS, SENSORINEURAL(HP:0000407), ATAXIA(HP:0001251), MIOSIS(HP:0000616), SHORT FOURTH METATARSALS(HP:0004689), ANOSMIA(HP:0000458), PTOSIS(HP:0000508), RETINITIS PIGMENTOSA(HP:0000510), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), METABOLISM ABNORMALITY(HP:0001939), MULTIPLE EPIPHYSEAL DYSPLASIA(HP:0002654), ABNORMALITY OF THE CEREBELLUM(HP:0001317)]
5265	SERPINA1	[RESPIRATORY DIFFICULTIES(HP:0002880), EMPHYSEMA(HP:0002097), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CHRONIC OBSTRUCTIVE PULMONARY DISEASE(HP:0006510), INCREASED HEPATOCELLULAR CARCINOMA RISK(HP:0006750), CIRRHOSIS(HP:0001394), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), DYSPNEA(HP:0002094)]
5266	PI3	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INFLAMMATORY SKIN DISEASE(HP:0007423)]
5277	PIGA	[PAROXYSMAL NOCTURNAL HEMOGLOBINURIA(HP:0004818)]
5290	PIK3CA	[HETEROGENEOUS(HP:0001425), SUBACUTE PROGRESSIVE VIRAL HEPATITIS(HP:0006572), TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ALVEOLAR CELL CARCINOMA(HP:0006519), MICRONODULAR CIRRHOSIS(HP:0001413), BREAST CANCER(HP:0003002), NUMEROUS NEVI(HP:0001054), PIGMENTED NEVI(HP:0000995), CHRONIC ATROPHIC GASTRITIS(HP:0002582), METABOLISM ABNORMALITY(HP:0001939), HEPATOCELLULAR CARCINOMA(HP:0001402), UTERINE LEIOMYOSARCOMA(HP:0002891), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716), RESPIRATORY ABNORMALITY(HP:0002086)]
5307	PITX1	[MULTIFACTORIAL(HP:0001426), TALIPES EQUINOVARUS(HP:0001762)]
5308	PITX2	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), VARIABLE EXPRESSIVITY(HP:0003828), PROMINENT SUPRAORBITAL RIDGES(HP:0000336), RIEGER ANOMALY(HP:0000558), GROWTH HORMONE DEFICIENCY(HP:0000824), ABNORMALLY PROMINENT LINE OF SCHWALBE(HP:0007873), HYPOPLASIA OF THE MAXILLA(HP:0000327), SHORT PHILTRUM(HP:0000322), ANAL ATRESIA(HP:0002023), THIN UPPER LIP(HP:0000219), ANAL STENOSIS(HP:0002025), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), GLAUCOMA(HP:0000501), ANIRIDIA(HP:0000526), HYPOSPADIAS(HP:0000047), HYPODONTIA(HP:0000668), BROAD NASAL BRIDGE(HP:0000431), MEGALOCORNEA(HP:0000485), HYPOPLASTIC IRIS STROMA(HP:0007990), STRABISMUS(HP:0000486), MICROCORNEA(HP:0000482)]
5309	PITX3	[CATARACT(HP:0000518), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CORNEAL CLOUDING(HP:0000515), ANTERIOR SEGMENT OCULAR DYSGENESIS(HP:0007696)]
5310	PKD1	[CEREBRAL ANEURYSM(HP:0004944), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), COLON DIVERTICULA(HP:0002253), RENAL FAILURE(HP:0000083), INCREASED PREVALENCE OF VALVULAR DISEASE(HP:0001726), HEPATIC CYSTS(HP:0001407), POLYCYSTIC KIDNEY(HP:0000113)]
5311	PKD2	[CEREBRAL ANEURYSM(HP:0004944), HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), COLON DIVERTICULA(HP:0002253), RENAL FAILURE(HP:0000083), INCREASED PREVALENCE OF VALVULAR DISEASE(HP:0001726), HEPATIC CYSTS(HP:0001407), AGE OF ONSET(HP:0003674), CEREBRAL HEMORRHAGE(HP:0001342), POLYCYSTIC KIDNEY(HP:0000113)]
5313	PKLR	[INCREASED RED CELL OSMOTIC FRAGILITY(HP:0005502), JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEMOLYTIC ANEMIA, CHRONIC(HP:0004815), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SPLENOMEGALY(HP:0001744), CHOLECYSTITIS(HP:0001082), INTRAUTERINE GROWTH RETARDATION(HP:0001511), CHOLELITHIASIS(HP:0001081), RETICULOCYTOSIS(HP:0001923), ERYTHROCYTOSIS(HP:0001901), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560), DECREASED HEMOGLOBIN(HP:0003136), NONIMMUNE HYDROPS FETALIS(HP:0001790)]
5314	PKHD1	[HYPERTENSION(HP:0000822), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTERSTITIAL FIBROSIS(HP:0000129), ESOPHAGEAL VARICES(HP:0002040), NEONATAL DEATH(HP:0003811), PERIPORTAL FIBROSIS(HP:0001405), HEPATIC CYSTS(HP:0001407), PANCREATIC CYSTS(HP:0001737), POTTER FACIES(HP:0002009), SPLENOMEGALY(HP:0001744), PULMONARY HYPOPLASIA(HP:0002089), ABSENCE OF CORTICOMEDULLARY DIFFERENTIATION(HP:0005564), PORTAL HYPERTENSION(HP:0001409), RENAL FAILURE(HP:0000083), HEPATOMEGALY(HP:0002240), DEHYDRATION(HP:0001944), ENLARGED KIDNEYS(HP:0000105), POLYCYSTIC KIDNEY(HP:0000113), OLIGOHYDRAMNIOS(HP:0001562)]
5318	PKP2	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645), CARDIOMYOPATHY(HP:0001638), VENTRICULAR ARRHYTHMIA(HP:0004308), SYNCOPE(HP:0001279), VENTRICULAR ANEURYSMS(HP:0006698), PALPITATIONS(HP:0001962)]
5320	PLA2G2A	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ARTHRITIS(HP:0001369)]
5324	PLAG1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
5327	PLAT	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), THROMBOEMBOLISM(HP:0001907)]
5339	PLEC	[ABNORMALITY OF THE EYES(HP:0000478), SKIN FRAGILITY WITH NON-SCARRING BLISTERING(HP:0007585), BLISTERING, GENERALIZED(HP:0007467), ONYCHOGRYPHOSIS OF LARGE TOENAILS(HP:0008395), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), URETHRAL STENOSIS(HP:0008661), DECREASED BODY HEIGHT(HP:0004322), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), ANEMIA(HP:0001903), GENERALIZED BRUISING TENDENCY(HP:0007472), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), NEONATAL RESPIRATORY DISTRESS(HP:0002643), NAIL DYSPLASIA(HP:0002164), MILIA(HP:0001056), MUSCULAR DYSTROPHY(HP:0003560), CARIOUS TEETH(HP:0000670), SCARRING ALOPECIA OF SCALP(HP:0004552), PALMOPLANTAR HYPERKERATOSIS(HP:0000972), ONSET IN INFANCY(HP:0003576)]
5340	PLG	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE SKIN(HP:0000951), MACROCEPHALY(HP:0000256), KIDNEY STONES(HP:0000787), ABNORMALITY OF THE LARYNX(HP:0001600), DUODENAL ULCER(HP:0002588), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), PERIODONTITIS(HP:0000165), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), DANDY-WALKER MALFORMATION(HP:0001305), BLINDNESS(HP:0000618), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), GINGIVAL HYPERPLASIA(HP:0000212), RECURRENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0002788), METABOLISM ABNORMALITY(HP:0001939), CEREBELLAR HYPOPLASIA(HP:0001321), ABNORMALITY OF THE EARS(HP:0000598)]
5345	SERPINF2	[SPONTANEOUS JOINT HEMORRHAGE(HP:0005196), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ECCHYMOSES(HP:0000978), ABNORMALITY OF THE THORAX(HP:0000765), PERSISTENT BLEEDING AFTER TRAUMA(HP:0001934), BLEEDING DIATHESIS(HP:0001892)]
5351	PLOD1	[PES PLANUS(HP:0001763), TALIPES EQUINOVARUS(HP:0001762), JOINT DISLOCATION(HP:0001373), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DENTAL OVERCROWDING(HP:0000678), CONGESTIVE HEART FAILURE(HP:0001635), EPICANTHUS(HP:0000286), BLADDER DIVERTICULA(HP:0000015), KERATOCONUS(HP:0000563), OSTEOPOROSIS(HP:0000939), INGUINAL HERNIA(HP:0000023), DECREASED PULMONARY FUNCTION(HP:0005952), PREMATURE RUPTURE OF MEMBRANES(HP:0001788), FRONTAL BOSSING(HP:0002007), GASTROINTESTINAL HEMORRHAGE(HP:0002239), PNEUMONIA, RECURRENT EPISODES(HP:0006532), FLATTENED NASAL BRIDGE(HP:0000425), MOTOR RETARDATION(HP:0001270), JOINT LAXITY(HP:0001388), DETACHED RETINA(HP:0000541), DOLICHOSTENOMELIA(HP:0001519), RESPIRATORY INSUFFICIENCY(HP:0002093), EXCESSIVE WRINKLED SKIN (PALMS AND SOLES)(HP:0001016), KYPHOSIS(HP:0002808), SOFT, THIN SKIN(HP:0001020), BLINDNESS(HP:0000618), ARACHNODACTYLY(HP:0001166), GENERALIZED HYPOTONIA(HP:0001290), MOLLUSCOID PSEUDOTUMORS(HP:0000993), CONGENITAL SCOLIOSIS, PROGRESSIVE(HP:0008458), ECCHYMOSES(HP:0000978), GLAUCOMA(HP:0000501), BLUE SCLERAE(HP:0000592), HYPERBILIRUBINEMIA(HP:0002904), DECREASED FETAL MOVEMENT(HP:0001558), NORMAL TO TALL STATURE(HP:0003516), MICROCORNEA(HP:0000482)]
5352	PLOD2	[TALIPES EQUINOVARUS(HP:0001762), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FEMORAL BOWING(HP:0002980), INGUINAL HERNIA(HP:0000023), OSTEOPENIA(HP:0000938), PLATYSPONDYLY(HP:0000926), PECTUS CARINATUM(HP:0000768), CONGENITAL CONTRACTURES(HP:0002803), DECREASED BODY HEIGHT(HP:0004322), HYDROXYPROLINURIA(HP:0003080), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), WORMIAN BONES(HP:0002645), PTERYGIA(HP:0001059)]
5354	PLP1	[SPASTIC GAIT(HP:0002064), PES CAVUS(HP:0001761), JOINT CONTRACTURES(HP:0001372), DEGENERATION OF THE LATERAL CORTICOSPINAL TRACTS(HP:0002314), SUDANOPHILIC LEUKODYSTROPHY(HP:0003269), HIGHLY VARIABLE PHENOTYPE(HP:0003815), HYPERREFLEXIA(HP:0001347), LOWER LIMB SPASTICITY(HP:0002061), MUSCULAR HYPOTONIA(HP:0001252), SLOW PROGRESSION(HP:0003677), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), ABNORMALITY OF THE LARYNX(HP:0001600), DYSARTHRIA(HP:0001260), SPASTIC PARAPLEGIA(HP:0001258), CHOREOATHETOSIS(HP:0001266), HYPOREFLEXIA(HP:0001265), PSYCHOMOTOR DEGENERATION(HP:0002361), ONSET IN INFANCY(HP:0003576), ONSET IN CHILDHOOD(HP:0003578), ROTARY NYSTAGMUS(HP:0001583), DYSMETRIA(HP:0001310), SPINOCEREBELLAR TRACT DEGENERATION(HP:0002503), AMYOTROPHY(HP:0003202), X-LINKED RECESSIVE INHERITANCE(HP:0001419), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), DYSTONIA(HP:0001332), SCANNING SPEECH(HP:0002168), MICROCEPHALY(HP:0000252)]
5373	PMM2	[HYPOTHYROIDISM(HP:0000821), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CARDIOMYOPATHY(HP:0001638), ESOTROPIA(HP:0000565), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), THROMBOCYTOSIS(HP:0001894), DECREASED IGA(HP:0002720), HEPATIC STEATOSIS(HP:0001397), HEPATIC FIBROSIS(HP:0001395), KYPHOSIS(HP:0002808), PROTEINURIA(HP:0000093), NYSTAGMUS(HP:0000639), PRIMARY OVARIAN FAILURE(HP:0001587), HEPATOMEGALY(HP:0002240), ABNORMAL SUBCUTANEOUS FAT TISSUE DISTRIBUTION(HP:0007552), NEPHROTIC SYNDROME(HP:0000100), RENAL CYSTS(HP:0000107), MUSCLE WEAKNESS(HP:0001324), PROXIMAL RENAL TUBULE DEFECT(HP:0000114), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560), WEAKNESS(HP:0002309), LARGE EARS(HP:0000400), HYPOCHOLESTEROLEMIA(HP:0003146), OSTEOPENIA(HP:0000938), FEEDING DIFFICULTIES(HP:0002022), NONIMMUNE HYDROPS FETALIS(HP:0001790), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), FRONTAL BOSSING(HP:0002007), DIARRHEA(HP:0002014), INVERTED NIPPLES(HP:0003186), OLIVOPONTOCEREBELLAR HYPOPLASIA(HP:0006955), VOMITING(HP:0002013), FLATTENED NASAL BRIDGE(HP:0000425), POLYNEUROPATHY(HP:0001271), FAILURE TO THRIVE(HP:0001508), HYPOREFLEXIA(HP:0001265), PROLONGED PARTIAL THROMBOPLASTIN TIME(HP:0003645), PERICARDIAL EFFUSION(HP:0001698), ABNORMAL ISOELECTRIC FOCUSING OF SERUM TRANSFERRIN (TYPE 1 PATTERN)(HP:0003642), ANTITHROMBIN III DEFICIENCY(HP:0001976), THIN UPPER LIP(HP:0000219), HYPOALBUMINEMIA(HP:0003073), RETINITIS PIGMENTOSA(HP:0000510), STROKE-LIKE EPISODES(HP:0002401), MICROCEPHALY(HP:0000252), DECREASED IGG LEVEL(HP:0004315), ELEVATED TRANSAMINASES(HP:0002910), FACTOR XI DEFICIENCY(HP:0001929)]
5376	PMP22	[KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE SEVERITY(HP:0003814), IMMUNOLOGICAL ABNORMALITY(HP:0002715), TALIPES CALCANEOVALGUS(HP:0001884), ONSET IN EARLY CHILDHOOD(HP:0003580), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), UPPER LIMB POSTURAL TREMOR(HP:0007351), SEGMENTAL DEMYELINATION(HP:0007107), PARALYSIS(HP:0003470), AREFLEXIA(HP:0001284), SEVERELY DECREASED MOTOR NERVE CONDUCTION VELOCITY(HP:0006907), PES CAVUS(HP:0001761), GAIT ATAXIA(HP:0002066), HAMMER TOES(HP:0001765), HEARING LOSS, SENSORINEURAL(HP:0000407), DISTAL AMYOTROPHY(HP:0003693), MUSCULAR HYPOTONIA(HP:0001252), SLOW PROGRESSION(HP:0003677), MYELIN OUTFOLDINGS MAY OCCUR IN A SUBSET OF PATIENTS(HP:0003433), SEGMENTAL DEMYELINATION/REMYELINATION ON NERVE BIOPSY(HP:0003425), MOTOR RETARDATION(HP:0001270), COLD-INDUCED MUSCLE CRAMPS(HP:0003449), HYPOREFLEXIA(HP:0001265), HETEROGENEOUS(HP:0001425), INCREASED CSF PROTEIN(HP:0002922), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV) (LESS THAN 38 M/S)(HP:0000760), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), CLAW HAND DEFORMITIES (IN SEVERE CASES)(HP:0001178), FOOT DROP(HP:0003377), ONSET IN FIRST OR SECOND DECADE(HP:0003589), 'STEPPAGE' GAIT(HP:0003376), DECREASED NUMBER OF MYELINATED FIBERS(HP:0003380), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383), INSIDIOUS ONSET(HP:0003587), HYPERTROPHIC NERVE CHANGES(HP:0003382)]
5395	PMS2	[CAFE-AU-LAIT SPOTS(HP:0000957), HYPERPIGMENTED MACULES(HP:0001034), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE ABDOMEN(HP:0001438), LEUKEMIA(HP:0001909), NEUROBLASTOMA(HP:0003006), LYMPHOMA(HP:0002665), AXILLARY FRECKLING(HP:0000997), BASAL CELL CARCINOMA(HP:0002671), MEDULLOBLASTOMA(HP:0002885), ASTROCYTOMA(HP:0009592), EPENDYMOMA(HP:0002888)]
5406	PNLIP	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MALABSORPTION(HP:0002024)]
5409	PNMT	[MULTIFACTORIAL(HP:0001426), ELEVATED SYSTOLIC BLOOD PRESSURE(HP:0004421), ELEVATED DIASTOLIC BLOOD PRESSURE(HP:0005117), ELEVATED MEAN ARTERIAL PRESSURE(HP:0004972)]
5422	POLA1	[TENDENCY TO CHROMOSOMAL BREAKAGE(HP:0003220), DEAFNESS(HP:0000404), ACUTE LYMPHATIC LEUKEMIA(HP:0006721), X-LINKED INHERITANCE(HP:0001417), CRYPTORCHIDISM(HP:0000028), IMPAIRED VISION(HP:0000505), MENTAL RETARDATION(HP:0001249), HYPOSPADIAS(HP:0000047), SPASTICITY(HP:0001257)]
5428	POLG	[RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), ASTROCYTOSIS(HP:0002446), DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MITRAL VALVE PROLAPSE(HP:0001634), HIGHLY VARIABLE PHENOTYPE(HP:0003815), INTESTINAL PSEUDO-OBSTRUCTION(HP:0004389), DISTAL MUSCLE WEAKNESS(HP:0002460), ELECTRON MICROSCOPY SHOWS SUBSARCOLEMMAL ACCUMULATIONS OF ABNORMALLY SHAPED MITOCHONDRIA(HP:0003548), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), VISUAL LOSS(HP:0000572), EXERCISE INTOLERANCE(HP:0003546), TESTICULAR ATROPHY(HP:0000029), MITRAL REGURGITATION(HP:0001653), INCREASED VARIABILITY IN MUSCLE FIBER SIZE(HP:0003557), CATARACT(HP:0000518), PRIMARY AMENORRHEA(HP:0000786), MUSCLE BIOPSY SHOWS MULTIPLE MITOCHONDRIAL DNA (MTDNA) DELETIONS IN MOST CASES(HP:0003801), HEPATIC FAILURE(HP:0001399), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), MUSCLE WEAKNESS, PROGRESSIVE(HP:0003323), PSYCHOMOTOR REGRESSION(HP:0002489), HYPODENSITY OF CEREBRAL WHITE MATTER ON MRI(HP:0007103), ONSET IN ADULTHOOD(HP:0003581), PROXIMAL MUSCLE WEAKNESS, MILD(HP:0009033), DYSPHONIA(HP:0001618), ONSET IN INFANCY(HP:0003576), ATROPHY/DEGENERATION INVOLVING THE SPINAL CORD(HP:0007344), FACIAL MUSCLE WEAKNESS(HP:0010628), PARALYSIS(HP:0003470), PARKINSONISM(HP:0001300), RHABDOMYOLYSIS(HP:0003201), RAGGED-RED MUSCLE FIBERS(HP:0003200), DISTAL SENSORY LOSS OF PROPRIOCEPTION AND VIBRATION SENSE(HP:0006858), PREMATURE OVARIAN FAILURE(HP:0008209), INTERMITTENT DIARRHEA(HP:0002254), SECONDARY AMENORRHEA(HP:0000869), MILDLY INCREASED SERUM CREATINE KINASE(HP:0003211), WEIGHT LOSS(HP:0001824), NYSTAGMUS(HP:0000639), AREFLEXIA(HP:0001284), MYOCLONUS(HP:0001336), MUSCLE BIOPSY SHOWS DECREASED ACTIVITY OF CYTOCHROME C OXIDASE IN MOST CASES(HP:0003734), DISTAL LIMB MUSCLE WEAKNESS(HP:0003497), EXTERNAL OPHTHALMOPLEGIA, PROGRESSIVE (PEO)(HP:0000590), CORTICAL BLINDNESS(HP:0000595), MITOCHONDRIAL MYOPATHY, SEVERE(HP:0008960), FAVORABLE RESPONSE TO LEVODOPA(HP:0002548), MUSCLE BIOPSY SHOWS NECROTIC AND ATROPHIC FIBERS WITH CENTRALIZED NUCLEI(HP:0003726), PES CAVUS(HP:0001761), BRADYKINESIA(HP:0002067), LIMB ATAXIA(HP:0002070), INCREASED LIVER FUNCTION TESTS(HP:0003156), MIGRAINE(HP:0002076), HEARING LOSS, SENSORINEURAL(HP:0000407), GENERALIZED AMYOTROPHY(HP:0003700), LIMB MUSCLE WEAKNESS(HP:0003690), RESTING TREMOR(HP:0002322), DISTAL AMYOTROPHY(HP:0003693), MALABSORPTION(HP:0002024), ABDOMINAL PAIN(HP:0002027), RIGIDITY(HP:0002063), MUSCULAR HYPOTONIA(HP:0001252), ABNORMALITY OF VISION EVOKED POTENTIALS(HP:0000649), PROGRESSIVE DISORDER(HP:0003676), GASTROINTESTINAL DYSMOTILITY(HP:0002579), SENSORY ATAXIC NEUROPATHY(HP:0003434), GASTROPARESIS(HP:0002578), RAPIDLY PROGRESSIVE(HP:0003678), DEVELOPMENTAL RETARDATION(HP:0001263), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), VOMITING(HP:0002013), CEREBRAL CORTICAL NEURODEGENERATION(HP:0006964), LEUKOENCEPHALOPATHY(HP:0002352), FAILURE TO THRIVE(HP:0001508), VESTIBULAR DYSFUNCTION(HP:0001751), HYPOREFLEXIA(HP:0001265), HYPERTONIA(HP:0001276), CEREBELLAR ATROPHY(HP:0001272), RESPIRATORY INSUFFICIENCY(HP:0002093), STATUS EPILEPTICUS(HP:0002133), HYPOKINESIA(HP:0002375), COGNITIVE IMPAIRMENT, MILD(HP:0002129), MILDLY INCREASED SERUM LACTATE(HP:0003638), INCREASED CSF PROTEIN(HP:0002922), GAIT ATAXIA, PROGRESSIVE(HP:0002142), BILE DUCT PROLIFERATION(HP:0001408), MICROVESICULAR STEATOSIS(HP:0001414), MICRONODULAR CIRRHOSIS(HP:0001413), PTOSIS(HP:0000508), EMOTIONAL LABILITY(HP:0000712), LACTIC ACIDEMIA(HP:0003128), NEURONAL LOSS(HP:0002400), DEPRESSION(HP:0000716), POSITIVE ROMBERG SIGN(HP:0002403), GLIOSIS(HP:0002171), SENSORY AXONAL NEUROPATHY(HP:0003390), 'STEPPAGE' GAIT(HP:0003376), LATE ONSET(HP:0003584), USUALLY AUTOSOMAL DOMINANT(HP:0001455), DEMENTIA(HP:0000726)]
5429	POLH	[DERMAL ATROPHY(HP:0004334), XERODERMA PIGMENTOSUM(HP:0007415), PHOTOPHOBIA(HP:0000613), TELANGIECTASIA(HP:0001009), POIKILODERMA(HP:0001029), ENTROPION(HP:0000621), PHOTOSENSITIVITY(HP:0000992), FRECKLING(HP:0001480), CONJUNCTIVITIS(HP:0000509), METABOLISM ABNORMALITY(HP:0001939), EARLY ONSET(HP:0003593), KERATITIS(HP:0000491), ECTROPION(HP:0000656)]
5444	PON1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
5447	POR	[MALAR HYPOPLASIA(HP:0000272), ENDOCRINE ABNORMALITY(HP:0000818), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FEMORAL BOWING(HP:0002980), CRANIOSYNOSTOSIS(HP:0001363), CRYPTORCHIDISM(HP:0000028), LARYNGOMALACIA(HP:0001601), CHORDEE(HP:0000041), PROPTOSIS(HP:0000520), SCROTAL HYPOPLASIA(HP:0000046), HYPERTELORISM(HP:0000316), HYPOSPADIAS(HP:0000047), RADIOULNAR SYNOSTOSIS(HP:0002974), BIFID SCROTUM(HP:0000048), MICROPENIS(HP:0000054), CLITOROMEGALY(HP:0000057), AMBIGUOUS GENITALIA(HP:0000062), LABIAL HYPOPLASIA(HP:0000066), RADIOHUMERAL SYNOSTOSIS(HP:0003041), MATERNAL VIRILIZATION(HP:0008072), LOW MATERNAL SERUM ESTRIOL(HP:0008073), HORSESHOE KIDNEY(HP:0000085), VESICOVAGINAL FISTULA(HP:0001586), BRONCHOMALACIA(HP:0002780), OLIGOHYDRAMNIOS(HP:0001562), ULNAR BOWING(HP:0003031), ARNOLD-CHIARI MALFORMATION(HP:0002308), CAMPTODACTYLY (HANDS)(HP:0010563), HEARING LOSS, CONDUCTIVE(HP:0000405), POLYCYSTIC OVARIES(HP:0000147), SIMPLE EARS(HP:0000390), FRONTAL BOSSING(HP:0002007), FLATTENED NASAL BRIDGE(HP:0000425), LOW BIRTH WEIGHT(HP:0001518), CLOVERLEAF SKULL(HP:0002676), ABNORMALITY OF THE ABDOMEN(HP:0001438), ARACHNODACTYLY(HP:0001166), HEMIVERTEBRAE(HP:0002937), CONGENITAL VERTICAL TALUS(HP:0010218), CHOANAL ATRESIA(HP:0000453), CHOANAL STENOSIS(HP:0000452), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITIES OF PLACENTA AND UMBILICAL CORD(HP:0001194), SCOLIOSIS(HP:0002650), SYNOSTOSIS INVOLVING THE CARPAL BONES(HP:0009702), MICROCEPHALY(HP:0000252), BRACHYCEPHALY(HP:0000248), SYNOSTOSIS INVOLVING TARSAL BONES(HP:0008368)]
5456	POU3F4	[ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), X-LINKED INHERITANCE(HP:0001417)]
5468	PPARG	[ACANTHOSIS NIGRICANS(HP:0000956), HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INSULIN-RESISTANT DIABETES MELLITUS(HP:0000831), POLYCYSTIC OVARIES(HP:0000147), ABNORMALITY OF THE FACE(HP:0000271), PRIMARY AMENORRHEA(HP:0000786), HEPATIC STEATOSIS(HP:0001397), CIRRHOSIS(HP:0001394), OBESITY(HP:0001513), LOSS OF SUBCUTANEOUS ADIPOSE TISSUE IN LIMBS(HP:0003635), ABNORMALITY OF THE NECK(HP:0000464), LOSS OF SUBCUTANEOUS ADIPOSE TISSUE FROM GLUTEAL REGION(HP:0009017), PROMINENT SUPERFICIAL VEINS(HP:0001015), INCREASED SERUM TRIGLYCERIDES(HP:0003082), DECREASED SUBCUTANEOUS FAT(HP:0001002), HIRSUTISM(HP:0001007), HYPERGLYCEMIA(HP:0003074), LIPODYSTROPHY(HP:0009125), OLIGOMENORRHEA(HP:0000876), MATERNAL DIABETES(HP:0009800), ABNORMALITY OF MUSCULATURE(HP:0003011), DECREASED HDL CHOLESTEROL(HP:0003233), HYPERURICEMIA(HP:0002149), HYPERINSULINEMIA(HP:0000842)]
5476	CTSA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), COARSE FACIAL FEATURES(HP:0000280), DYSOSTOSIS MULTIPLEX(HP:0000943), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), CORNEAL CLOUDING(HP:0000515), CONJUNCTIVAL TELANGIECTASIA(HP:0000524), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), DWARFISM(HP:0001516), DECREASED BETA-GALACTOSIDASE ACTIVITY (LEUKOCYTE, FIBROBLAST, PLASMA)(HP:0003644), HEPATOSPLENOMEGALY(HP:0001433), HEARING LOSS(HP:0000365)]
5479	PPIB	[KYPHOSIS(HP:0002808), GENU VARUS(HP:0003052), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BOWING OF THE LEGS(HP:0002979), DENTINOGENESIS IMPERFECTA(HP:0000703), PECTUS EXCAVATUM(HP:0000767), MULTIPLE PRENATAL FRACTURES(HP:0005855), WORMIAN BONES(HP:0002645), BOWING OF LIMBS DUE TO MULTIPLE FRACTURES(HP:0003023), METABOLISM ABNORMALITY(HP:0001939), SCOLIOSIS(HP:0002650), SHORT LIMB DWARFISM(HP:0003505), BLUE SCLERAE(HP:0000592), GENU VARUM(HP:0002970), PECTUS CARINATUM(HP:0000768), RECURRENT FRACTURES(HP:0002757)]
5498	PPOX	[NEUROPATHY(HP:0003407), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONSTIPATION(HP:0002019), PHOTOSENSITIVITY(HP:0000992), ABDOMINAL PAIN(HP:0002027), TACHYCARDIA(HP:0001649), METABOLISM ABNORMALITY(HP:0001939), PSYCHOSIS(HP:0000709), VOMITING(HP:0002013)]
5506	PPP1R3A	[ACANTHOSIS NIGRICANS(HP:0000956), HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INSULIN-RESISTANT DIABETES MELLITUS(HP:0000831), POLYCYSTIC OVARIES(HP:0000147), ABNORMALITY OF THE FACE(HP:0000271), PRIMARY AMENORRHEA(HP:0000786), HEPATIC STEATOSIS(HP:0001397), CIRRHOSIS(HP:0001394), LOSS OF SUBCUTANEOUS ADIPOSE TISSUE IN LIMBS(HP:0003635), ABNORMALITY OF THE NECK(HP:0000464), LOSS OF SUBCUTANEOUS ADIPOSE TISSUE FROM GLUTEAL REGION(HP:0009017), PROMINENT SUPERFICIAL VEINS(HP:0001015), INCREASED SERUM TRIGLYCERIDES(HP:0003082), DECREASED SUBCUTANEOUS FAT(HP:0001002), HIRSUTISM(HP:0001007), HYPERGLYCEMIA(HP:0003074), LIPODYSTROPHY(HP:0009125), OLIGOMENORRHEA(HP:0000876), MATERNAL DIABETES(HP:0009800), ABNORMALITY OF MUSCULATURE(HP:0003011), DECREASED HDL CHOLESTEROL(HP:0003233), HYPERURICEMIA(HP:0002149), HYPERINSULINEMIA(HP:0000842)]
5519	PPP2R1B	[ALVEOLAR CELL CARCINOMA(HP:0006519), RESPIRATORY ABNORMALITY(HP:0002086), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
5521	PPP2R2B	[DELUSIONS(HP:0000746), DYSMETRIA(HP:0001310), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ANXIETY(HP:0000739), PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073), DYSDIADOCHOKINESIS(HP:0002075), PARKINSONISM(HP:0001300), CEREBRAL CORTICAL ATROPHY(HP:0002120), HYPERREFLEXIA(HP:0001347), AGE OF ONSET(HP:0003674), DEPRESSION(HP:0000716), HEAD TREMOR(HP:0002346), DYSARTHRIA(HP:0001260), ABNORMALITY OF EYE MOVEMENT(HP:0000496), DEMENTIA(HP:0000726), CEREBELLAR ATROPHY(HP:0001272)]
5538	PPT1	[RETINAL DEGENERATION(HP:0000546), CONTRACTURES(HP:0001371), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AUTOFLUORESCENT LIPOPIGMENT IN NEURONS(HP:0002074), MICROCEPHALY, POSTNATAL(HP:0005484), VARIABLE SEVERITY(HP:0003814), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), SPASTICITY(HP:0001257), EEG ABNORMALITIES(HP:0002353), PSYCHOMOTOR DEGENERATION(HP:0002361), ONSET IN ADULTHOOD(HP:0003581), SLEEP DISTURBANCES(HP:0002360), HYPOKINESIA(HP:0002375), MACULAR DEGENERATION(HP:0000608), LOSS OF SPEECH(HP:0002371), BLINDNESS(HP:0000618), HALLUCINATIONS(HP:0000738), IRRITABILITY(HP:0000737), VISUAL LOSS, PROGRESSIVE(HP:0007967), REDUCED OR ABOLISHED ELECTRORETINOGRAM(HP:0007689), VARIABLE AGE AT ONSET(HP:0003618), MYOCLONUS(HP:0001336), COGNITIVE DECLINE(HP:0002303), DEPRESSION(HP:0000716), METABOLISM ABNORMALITY(HP:0001939), CEREBRAL ATROPHY, PROGRESSIVE(HP:0002422), MICROCEPHALY, PROGRESSIVE(HP:0000253)]
5546	PRCC	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MULTIPLE PAPILLARY RENAL CELL CARCINOMAS(HP:0006776)]
5573	PRKAR1A	[HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), OSTEOPOROSIS(HP:0000939), OSTEOPENIA(HP:0000938), FRECKLING(HP:0001480), PROFUSE PIGMENTED SKIN LESIONS(HP:0005587), ROUND FACE(HP:0000311), PULMONIC VALVE MYXOMA(HP:0006691), BACTERIAL ENDOCARDITIS SUSCEPTIBLE(HP:0006689), ONSET IN CHILDHOOD OR EARLY ADULTHOOD(HP:0003663), ABNORMALITY OF THE EYES(HP:0000478), ABNORMAL OR EXCESS NEVI(HP:0003764), KYPHOSIS(HP:0002808), PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE(HP:0001580), HETEROGENEOUS(HP:0001425), ACTH-INDEPENDENT HYPERCORTISOLEMIA(HP:0001579), DECREASED SERUM ACTH(HP:0002920), ANXIETY(HP:0000739), PARADOXICAL INCREASED CORTISOL SECRETION ON DEXAMETHASONE SUPPRESSION TEST(HP:0003466), MOOD CHANGES(HP:0001575), TRUNCAL OBESITY(HP:0001956), HIRSUTISM(HP:0001007), SPORADIC(HP:0003745), PHEOCHROMOCYTOMA(HP:0002666), AGITATION(HP:0000713), THYROID FOLLICULAR HYPERPLASIA(HP:0008225), COGNITIVE DECLINE(HP:0002303), CUSHING SYNDROME(HP:0000850), MYXOID SUBCUTANEOUS TUMORS(HP:0006769), STRIAE DISTENSAE(HP:0001065), DEPRESSION(HP:0000716), RED HAIR(HP:0002297), ECCHYMOSES(HP:0000978), PSYCHOSIS(HP:0000709), PAPILLARY THYROID CARCINOMA(HP:0002895), PITUITARY ADENOMA(HP:0002893), INCREASED SERUM CORTISOL(HP:0003118), THIN SKIN(HP:0000963), ACROMEGALY(HP:0000845)]
5578	PRKCA	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MALIGNANT MELANOMA(HP:0002861)]
5582	PRKCG	[GAIT ATAXIA(HP:0002066), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCOMPLETE PENETRANCE(HP:0003829), PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073), DECREASED VIBRATION SENSE AT ANKLES(HP:0006938), HYPERREFLEXIA(HP:0001347), SLOW PROGRESSION(HP:0003677), FOCAL DYSTONIA(HP:0004373), DYSARTHRIA(HP:0001260), FACIAL MYOKYMIA(HP:0000317), DYSPHAGIA(HP:0002015), MEMORY LOSS(HP:0002081), CEREBELLAR ATROPHY(HP:0001272), DYSMETRIA(HP:0001310), MEAN AGE OF ONSET 18 YEARS(HP:0003628), NYSTAGMUS(HP:0000639), COGNITIVE DECLINE(HP:0002303), DEPRESSION(HP:0000716), ATTENTION DEFICIT HYPERACTIVITY DISORDER(HP:0007018)]
5589	PRKCSH	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE URINARY TRACT(HP:0000079), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), ABDOMINAL DISTENTION(HP:0003270), BACK PAIN(HP:0003418), BLEEDING DIATHESIS(HP:0001892), RESPIRATORY DIFFICULTIES(HP:0002880), INCREASED TOTAL BILIRUBIN MAY OCCUR(HP:0008168), NEUROLOGICAL ABNORMALITY(HP:0000707), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), POLYCYSTIC LIVER DISEASE(HP:0006557), DYSPNEA(HP:0002094)]
5602	MAPK10	[RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), THIN CORPUS CALLOSUM(HP:0002319), MACROCEPHALY(HP:0000256), GASTROESOPHAGEAL REFLUX(HP:0002020), POOR DENTAL DEVELOPMENT(HP:0006296), SEIZURES(HP:0001250), PROGRESSIVE DISORDER(HP:0003676), DYSPHAGIA(HP:0002015), LOW NASAL BRIDGE(HP:0000428), HIGH FOREHEAD(HP:0000348), VENTRICULOMEGALY(HP:0002119), GINGIVAL HYPERPLASIA(HP:0000212), PERIVENTRICULAR WHITE MATTER CHANGES(HP:0002518), PTOSIS(HP:0000508), LOW-SET EARS(HP:0000369), POSTERIORLY ROTATED EARS(HP:0000358), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), CEREBRAL ATROPHY, FRONTOTEMPORAL, PROGRESSIVE(HP:0006892), ENLARGED CISTERNA MAGNA(HP:0002280), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
5604	MAP2K1	[PULMONIC STENOSIS(HP:0001642), DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), OPTIC NERVE DYSPLASIA(HP:0001093), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), SLOW-GROWING HAIR(HP:0002217), ATRIAL SEPTAL DEFECT(HP:0001631), PREMATURE BIRTH(HP:0001622), CAVERNOUS HEMANGIOMA(HP:0001048), NYSTAGMUS(HP:0000639), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), ABSENT EYEBROWS AND EYELASHES(HP:0002288), POLYHYDRAMNIOS(HP:0001561), MULTIPLE PLANTAR CREASES(HP:0008113), HYDRONEPHROSIS(HP:0000126), SEVERE ATOPIC DERMATITIS(HP:0007533), HIGH-ARCHED PALATE(HP:0000156), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), EXOPHTHALMOS(HP:0000645), ABNORMALITY OF THE TEETH(HP:0000164), SPLENOMEGALY(HP:0001744), MULTIPLE PALMAR CREASES(HP:0006114), RELATIVE MACROCEPHALY(HP:0004482), HYPERTONIA(HP:0001276), SUBMUCOUS CLEFT PALATE(HP:0000176), OCULOMOTOR APRAXIA(HP:0000657), CLINODACTYLY OF HANDS(HP:0001157), PECTUS EXCAVATUM(HP:0000767), CEREBRAL CORTICAL ATROPHY(HP:0002120), MICROGNATHIA(HP:0000210), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), HYPEREXTENSIBILITY OF THE FINGER JOINTS(HP:0001187), HYDROCEPHALUS(HP:0000238), ONSET IN UTERO OR AT BIRTH(HP:0003601), COARSE FACIAL FEATURES(HP:0000280), EPICANTHUS(HP:0000286), DOLICHOCEPHALY(HP:0000268), PROMINENT PHILTRUM(HP:0000305), BITEMPORAL NARROWING(HP:0000314), HYPERTELORISM(HP:0000316), PECTUS CARINATUM(HP:0000768), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), HYPOPLASTIC FRONTAL LOBES(HP:0007333), POSTERIORLY ROTATED EARS(HP:0000358), HEARING LOSS(HP:0000365), ICHTHYOSIS(HP:0000955), CONSTIPATION(HP:0002019), GASTROESOPHAGEAL REFLUX(HP:0002020), OSTEOPENIA(HP:0000938), FEEDING DIFFICULTIES(HP:0002022), SHORT, UPTURNED NOSE(HP:0000441), BULBOUS NASAL TIP(HP:0000443), FRONTAL BOSSING(HP:0002007), VOMITING(HP:0002013), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), SHALLOW ORBITAL RIDGES(HP:0005337), DECREASED BODY HEIGHT(HP:0004322), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), HYPERKERATOSIS(HP:0000962), STRABISMUS(HP:0000486)]
5605	MAP2K2	[PULMONIC STENOSIS(HP:0001642), DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), OPTIC NERVE DYSPLASIA(HP:0001093), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), SLOW-GROWING HAIR(HP:0002217), ATRIAL SEPTAL DEFECT(HP:0001631), PREMATURE BIRTH(HP:0001622), CAVERNOUS HEMANGIOMA(HP:0001048), NYSTAGMUS(HP:0000639), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), ABSENT EYEBROWS AND EYELASHES(HP:0002288), POLYHYDRAMNIOS(HP:0001561), MULTIPLE PLANTAR CREASES(HP:0008113), HYDRONEPHROSIS(HP:0000126), SEVERE ATOPIC DERMATITIS(HP:0007533), HIGH-ARCHED PALATE(HP:0000156), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), EXOPHTHALMOS(HP:0000645), ABNORMALITY OF THE TEETH(HP:0000164), SPLENOMEGALY(HP:0001744), MULTIPLE PALMAR CREASES(HP:0006114), RELATIVE MACROCEPHALY(HP:0004482), HYPERTONIA(HP:0001276), SUBMUCOUS CLEFT PALATE(HP:0000176), OCULOMOTOR APRAXIA(HP:0000657), CLINODACTYLY OF HANDS(HP:0001157), PECTUS EXCAVATUM(HP:0000767), CEREBRAL CORTICAL ATROPHY(HP:0002120), MICROGNATHIA(HP:0000210), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), HYPEREXTENSIBILITY OF THE FINGER JOINTS(HP:0001187), HYDROCEPHALUS(HP:0000238), ONSET IN UTERO OR AT BIRTH(HP:0003601), COARSE FACIAL FEATURES(HP:0000280), EPICANTHUS(HP:0000286), DOLICHOCEPHALY(HP:0000268), PROMINENT PHILTRUM(HP:0000305), BITEMPORAL NARROWING(HP:0000314), HYPERTELORISM(HP:0000316), PECTUS CARINATUM(HP:0000768), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), HYPOPLASTIC FRONTAL LOBES(HP:0007333), POSTERIORLY ROTATED EARS(HP:0000358), HEARING LOSS(HP:0000365), ICHTHYOSIS(HP:0000955), CONSTIPATION(HP:0002019), GASTROESOPHAGEAL REFLUX(HP:0002020), OSTEOPENIA(HP:0000938), FEEDING DIFFICULTIES(HP:0002022), SHORT, UPTURNED NOSE(HP:0000441), BULBOUS NASAL TIP(HP:0000443), FRONTAL BOSSING(HP:0002007), VOMITING(HP:0002013), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), SHALLOW ORBITAL RIDGES(HP:0005337), DECREASED BODY HEIGHT(HP:0004322), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), HYPERKERATOSIS(HP:0000962), STRABISMUS(HP:0000486)]
5621	PRNP	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DYSAUTONOMIA(HP:0002459), URINARY RETENTION(HP:0000016), NEUROFIBRILLARY TANGLES MAY BE PRESENT(HP:0007070), APRAXIA(HP:0002186), HYPERREFLEXIA(HP:0001347), EXTRAPYRAMIDAL MUSCULAR RIGIDITY(HP:0007076), ONSET IN ADULTHOOD(HP:0003581), DYSMETRIA(HP:0001310), ABNORMALITY OF OCULAR SMOOTH PURSUIT(HP:0000617), PARKINSONISM(HP:0001300), CONFUSION(HP:0001289), SPORADIC(HP:0003745), DEMENTIA, RAPIDLY PROGRESSIVE(HP:0007122), WEIGHT LOSS(HP:0001824), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), TREMOR(HP:0001337), COGNITIVE DECLINE(HP:0002303), MYOCLONUS(HP:0001336), DIAPHORESIS(HP:0001064), DIFFUSE BRAIN ATROPHY(HP:0002283), ABSENT DEEP TENDON REFLEXES(HP:0001314), SUPRANUCLEAR GAZE PALSY(HP:0000605), BRADYKINESIA(HP:0002067), GAIT ATAXIA(HP:0002066), INCOORDINATION(HP:0002311), LIMB ATAXIA(HP:0002070), CHOREA(HP:0002072), UNSTEADY GAIT(HP:0002317), TRUNCAL ATAXIA(HP:0002078), CONSTIPATION(HP:0002019), RIGIDITY(HP:0002063), DIPLOPIA(HP:0000651), RAPIDLY PROGRESSIVE(HP:0003678), LOSS OF FACIAL EXPRESSION(HP:0005327), DYSARTHRIA(HP:0001260), APNEA(HP:0002104), DYSPHAGIA(HP:0002015), SPASTICITY(HP:0001257), HEMIPARESIS(HP:0001269), MEMORY LOSS(HP:0002081), CEREBELLAR ATROPHY(HP:0001272), DELUSIONS(HP:0000746), PERSONALITY CHANGES(HP:0000751), ANXIETY(HP:0000739), HALLUCINATIONS(HP:0000738), IRRITABILITY(HP:0000737), APHASIA(HP:0002381), APATHY(HP:0000741), CELL LOSS AND GLIOSIS IN THE BASAL GANGLIA(HP:0006999), EMOTIONAL LABILITY(HP:0000712), NEURONAL LOSS(HP:0002400), DEPRESSION(HP:0000716), AGGRESSIVE BEHAVIOR(HP:0000718), GLIOSIS(HP:0002171), PSYCHOSIS(HP:0000709), RESTLESSNESS(HP:0000711), FEVER(HP:0001945)]
5624	PROC	[ABNORMALITY OF THE EYES(HP:0000478), PULMONARY EMBOLISM(HP:0002204), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WARFARIN-INDUCED SKIN NECROSIS(HP:0001038), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PROTEIN C DEFICIENCY(HP:0005543), CEREBRAL VENOUS THROMBOSIS(HP:0005305), NEUROLOGICAL ABNORMALITY(HP:0000707), DEEP VENOUS THROMBOSIS(HP:0002625), SUPERFICIAL THROMBOPHLEBITIS(HP:0002638)]
5625	PRODH	[STATUS EPILEPTICUS(HP:0002133), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MENTAL RETARDATION, MILD TO SEVERE(HP:0002458), HYDROXYPROLINURIA(HP:0003080), GLYCINURIA(HP:0002931), VARIABLE PHENOTYPE(HP:0003813), RENAL FUNCTIONAL ABNORMALITY(HP:0000082), HYPERACTIVITY(HP:0000752), PROLINURIA(HP:0003137), MUSCULAR HYPOTONIA(HP:0001252), AGGRESSIVE BEHAVIOR(HP:0000718), HYPERPROLINEMIA(HP:0008358), EEG ABNORMALITIES(HP:0002353), STEREOTYPED, REPETITIVE BEHAVIOUR(HP:0000733), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
5626	PROP1	[HYPOTHYROIDISM(HP:0000821), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ISOLATED PROLACTIN DEFICIENCY(HP:0008202), HYPOGONADISM(HP:0000135), HYPOADRENALISM(HP:0000865), PANHYPOPITUITARISM(HP:0000871), NEUROLOGICAL ABNORMALITY(HP:0000707), GROWTH ABNORMALITY(HP:0001507), NEONATAL HYPOGLYCEMIA(HP:0001998)]
5627	PROS1	[PULMONARY EMBOLISM(HP:0002204), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WARFARIN-INDUCED SKIN NECROSIS(HP:0001038), CEREBRAL VENOUS THROMBOSIS(HP:0005305), METABOLISM ABNORMALITY(HP:0001939), ARTERIAL THROMBOSIS(HP:0004420), RECURRENT DEEP VEIN THROMBOSIS(HP:0004850), SUPERFICIAL THROMBOPHLEBITIS(HP:0002638)]
5631	PRPS1	[DIABETES MELLITUS(HP:0000819), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GOUTY ARTHRITIS(HP:0001368), CONGESTIVE HEART FAILURE(HP:0001635), CARDIOMYOPATHY(HP:0001638), EPICANTHUS(HP:0000286), HYPOURICEMIA(HP:0003537), DEATH IN EARLY CHILDHOOD(HP:0003817), ABSENT SPEECH DEVELOPMENT(HP:0001344), URIC ACID UROLITHIASIS(HP:0000791), RECURRENT INFECTIONS(HP:0002719), SPINAL CORD POSTERIOR COLUMNS MYELIN LOSS(HP:0008311), PROGRESSIVE VISUAL LOSS(HP:0000529), ONSET IN ADULTHOOD(HP:0003581), HYPERMETROPIA(HP:0000540), ONSET IN INFANCY(HP:0003576), LOCOMOTOR DELAY(HP:0001307), DYSMETRIA(HP:0001310), GAIT DISTURBANCE(HP:0001288), TRIANGULAR FACIES(HP:0000325), AREFLEXIA IN LOWER LIMBS(HP:0002522), RENAL FAILURE(HP:0000083), AXONAL NEUROPATHY(HP:0003477), CEREBRAL CALCIFICATION(HP:0002514), RECURRENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0002788), LOWER LEG ATROPHY(HP:0003714), HYPOTELORISM(HP:0000601), INCREASED PHOSPHORIBOSYLPYROPHOSPHATE (PRPP) SYNTHETASE(HP:0003240), PES CAVUS(HP:0001761), PROGRESSIVE AXONAL NEUROPATHY WITH DEMYELINIZATION ON ELECTRONEUROGRAPHY(HP:0003157), HEARING LOSS, SENSORINEURAL(HP:0000407), DEAFNESS(HP:0000404), HYPERURICOSURIA(HP:0003149), WIDE MOUTH(HP:0000154), DISTAL AMYOTROPHY(HP:0003693), EXCESSIVE PURINE PRODUCTION(HP:0003142), CONGENITAL HEARING LOSS(HP:0001729), MUSCULAR HYPOTONIA(HP:0001252), BEAKED NOSE(HP:0000444), SEIZURES(HP:0001250), FRONTAL BOSSING(HP:0002007), OPTIC ATROPHY(HP:0000648), DEVELOPMENTAL RETARDATION(HP:0001263), POLYNEUROPATHY(HP:0001271), GROWTH RETARDATION(HP:0001510), HYPERTONIA(HP:0001276), GOUT(HP:0001997), MEGALOBLASTIC BONE MARROW(HP:0001980), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), X-LINKED RECESSIVE INHERITANCE(HP:0001419), DISTAL SENSORY IMPAIRMENT(HP:0002936), HYPERURICEMIA(HP:0002149), EARLY ONSET(HP:0003593), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
5634	PRPS2	[DIABETES MELLITUS(HP:0000819), GOUTY ARTHRITIS(HP:0001368), CONGESTIVE HEART FAILURE(HP:0001635), CARDIOMYOPATHY(HP:0001638), EPICANTHUS(HP:0000286), ABSENT SPEECH DEVELOPMENT(HP:0001344), URIC ACID UROLITHIASIS(HP:0000791), HYPERMETROPIA(HP:0000540), LOCOMOTOR DELAY(HP:0001307), DYSMETRIA(HP:0001310), TRIANGULAR FACIES(HP:0000325), RENAL FAILURE(HP:0000083), AXONAL NEUROPATHY(HP:0003477), CEREBRAL CALCIFICATION(HP:0002514), AREFLEXIA(HP:0001284), LOWER LEG ATROPHY(HP:0003714), HYPOTELORISM(HP:0000601), HEARING LOSS(HP:0000365), INCREASED PHOSPHORIBOSYLPYROPHOSPHATE (PRPP) SYNTHETASE(HP:0003240), PROGRESSIVE AXONAL NEUROPATHY WITH DEMYELINIZATION ON ELECTRONEUROGRAPHY(HP:0003157), WIDE MOUTH(HP:0000154), EXCESSIVE PURINE PRODUCTION(HP:0003142), MUSCULAR HYPOTONIA(HP:0001252), BEAKED NOSE(HP:0000444), FRONTAL BOSSING(HP:0002007), POLYNEUROPATHY(HP:0001271), GROWTH RETARDATION(HP:0001510), HYPERTONIA(HP:0001276), X-LINKED INHERITANCE(HP:0001417), HYPERURICEMIA(HP:0002149)]
5644	PRSS1	[DIABETES MELLITUS(HP:0000819), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE SKIN(HP:0000951), ANAL ATRESIA(HP:0002023), HYPOPROTEINEMIA(HP:0003075), PANCREATIC INSUFFICIENCY(HP:0002581), PANCREATITIS(HP:0001733), FEVER(HP:0001945), FAILURE TO THRIVE(HP:0001508), PANCREATIC CALCIFICATION(HP:0005213), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), RESPIRATORY ABNORMALITY(HP:0002086), PANCREATIC PSEUDOCYSTS(HP:0005206), STEATORRHEA(HP:0002570)]
5649	RELN	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), THICK CEREBRAL CORTEX(HP:0006891), MICROCEPHALY(HP:0000252), PROMINENT NASAL BRIDGE(HP:0000426), TYPE I LISSENCEPHALY(HP:0006818), LOW, SLOPING FOREHEAD(HP:0008493)]
5651	TMPRSS15	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DIARRHEA(HP:0002014), FAILURE TO THRIVE(HP:0001508), HYPOPROTEINEMIC EDEMA(HP:0007609), HYPOPROTEINEMIA(HP:0003075)]
5657	PRTN3	[RAPID LOSS OF RENAL FUNCTION(HP:0008671), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715), NECROTIZING GLOMERULONEPHRITIS(HP:0008653), NEUTROPHIL ANTIBODY POSITIVE(HP:0003453), RESPIRATORY ABNORMALITY(HP:0002086), VASCULITIS(HP:0002633)]
5660	PSAP	[GAIT ATAXIA(HP:0002066), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WEAKNESS(HP:0002309), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), METACHROMATIC LEUKODYSTROPHY VARIANT(HP:0006926), CENTRAL APNEA(HP:0002871), VARIABLE SEVERITY(HP:0003814), URINARY INCONTINENCE(HP:0000020), HYPERREFLEXIA(HP:0001347), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEATH IN INFANCY(HP:0001522), DEVELOPMENTAL RETARDATION(HP:0001263), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), PSYCHOMOTOR REGRESSION(HP:0002489), POLYNEUROPATHY(HP:0001271), HYPOREFLEXIA(HP:0001265), HYPERTONIA(HP:0001276), ONSET AT BIRTH(HP:0003577), RESPIRATORY INSUFFICIENCY(HP:0002093), HYPERKINESIS(HP:0002487), HYPOKINESIA(HP:0002375), LOSS OF SPEECH(HP:0002371), EARLY DEATH(HP:0001432), INCREASED CSF PROTEIN(HP:0002922), FASCICULATIONS(HP:0002380), HEPATOSPLENOMEGALY(HP:0001433), ABNORMALITY OF THE CEREBRAL WHITE MATTER(HP:0002500), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), HYPERACTIVITY(HP:0000752), VARIABLE AGE AT ONSET(HP:0003618), BABINSKI SIGN(HP:0003487), SPASTIC TETRAPARESIS(HP:0001285), COGNITIVE DECLINE(HP:0002303), MYOCLONUS(HP:0001336), NEURONAL LOSS(HP:0002400), METABOLISM ABNORMALITY(HP:0001939), DIFFUSE BRAIN ATROPHY(HP:0002283), MUSCLE WEAKNESS(HP:0001324), DEMYELINATION(HP:0003381)]
5663	PSEN1	[EXTRAPYRAMIDAL SIGNS(HP:0002071), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEUROFIBRILLARY TANGLES(HP:0002185), APRAXIA(HP:0002186), HIGHLY VARIABLE PHENOTYPE(HP:0003815), LANGUAGE IMPAIRMENT(HP:0002463), INAPPROPRIATE SEXUAL BEHAVIOR(HP:0008768), ATAXIA(HP:0001251), PRIMITIVE REFLEXES (PALMOMENTAL, SNOUT, GLABELLAR)(HP:0002476), SEIZURES(HP:0001250), RAPIDLY PROGRESSIVE(HP:0003678), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), MEMORY LOSS(HP:0002081), ALZHEIMER DISEASE(HP:0002511), LACK OF MOTIVATION(HP:0000745), HETEROGENEOUS(HP:0001425), PERSONALITY CHANGES(HP:0000751), INAPPROPRIATE LAUGHTER(HP:0000748), AMYOTROPHIC LATERAL SCLEROSIS(HP:0007354), IRRITABILITY(HP:0000737), APATHY(HP:0000741), PARKINSONISM(HP:0001300), GAIT DISTURBANCE(HP:0001288), CEREBRAL CORTICAL ATROPHY(HP:0002120), LOWER LIMB HYPERREFLEXIA(HP:0002395), BABINSKI SIGN(HP:0003487), ISOLATED CASES(HP:0001420), SPASTIC TETRAPARESIS(HP:0001285), MYOCLONUS(HP:0001336), NEURONAL LOSS(HP:0002400), NEUROFIBRILLARY TANGLES COMPOSED OF DISORDERED MICROTUBULES IN NEURONS(HP:0003132), DYSTONIA(HP:0001332), HYPERORALITY(HP:0000710), LONG-TRACT SIGNS(HP:0002423), STEREOTYPED, REPETITIVE BEHAVIOUR(HP:0000733), EARLY ONSET(HP:0003593), DISINHIBITION(HP:0000734), FRONTOTEMPORAL DEMENTIA(HP:0002145), HYPERPHAGIA(HP:0000724), LATE ONSET(HP:0003584), DEMENTIA, PROGRESSIVE(HP:0002274), FRONTAL LOBE DEMENTIA(HP:0000727)]
5664	PSEN2	[SLEEP-WAKE CYCLE DISTURBANCE(HP:0006979), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEUROFIBRILLARY TANGLES(HP:0002185), EARLY ONSET(HP:0003593)]
5669	PSG1	[ABNORMAL IMMUNOGLOBULIN LEVEL(HP:0010701), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
5727	PTCH1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), VARIABLE EXPRESSIVITY(HP:0003828), COARSE FACIAL FEATURES(HP:0000280), MACROCEPHALY(HP:0000256), POLYDACTYLY(HP:0010442), MICROPHTHALMOS(HP:0000568), CATARACT(HP:0000518), CALCIFICATION OF FALX CEREBRI(HP:0005462), VERTEBRAL FUSION(HP:0002948), HYPERTELORISM(HP:0000316), CARDIAC RHABDOMYOMA(HP:0009729), MILD MANDIBULAR PROGNATHISM(HP:0004656), BRIDGED SELLA TURCICA(HP:0005449), ORBITAL CYSTS(HP:0001144), BIFID RIBS(HP:0000892), ANTERIORLY SPLAYED RIBS(HP:0006601), MILIA(HP:0001056), SLOPING SHOULDERS(HP:0001556), IRREGULAR OSSIFICATION OF HAND BONES(HP:0004280), CLEFT PALATE(HP:0000175), FRONTAL BOSSING(HP:0002007), WEDGE-SHAPED VERTEBRAE(HP:0008422), KERATOCYSTS OF THE JAW(HP:0010603), SPRENGEL ANOMALY(HP:0000912), PLANTAR PITS(HP:0010612), PALMAR PITS(HP:0010610), SKIN TAGS(HP:0010609), OVARIAN FIBROMA(HP:0010618), CARDIAC FIBROMA(HP:0010617), CLEFT LIP(HP:0000204), HETEROGENEOUS(HP:0001425), DELAYED MOTOR MILESTONES(HP:0002130), ABNORMALITY OF THE STERNUM(HP:0000766), HEMIVERTEBRAE(HP:0002937), BASAL CELL CARCINOMA(HP:0002671), HYDROCEPHALUS(HP:0000238), MEDULLOBLASTOMA(HP:0002885), SPINA BIFIDA(HP:0002414), SCOLIOSIS(HP:0002650), SUPERNUMERARY RIBS(HP:0005815), STRABISMUS(HP:0000486)]
5728	PTEN	[ACANTHOSIS NIGRICANS(HP:0000956), HYPOTHYROIDISM(HP:0000821), CAFE-AU-LAIT SPOTS(HP:0000957), KYPHOSCOLIOSIS(HP:0002751), ANGIOID STREAKS(HP:0001102), OVARIAN CYSTS(HP:0000138), RECTAL BLEEDING(HP:0002609), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), DELAYED GROSS MOTOR DEVELOPMENT(HP:0002194), MENINGIOMA(HP:0002858), MENTAL RETARDATION, MILD TO SEVERE(HP:0002458), ABNORMALLY PROMINENT LINE OF SCHWALBE(HP:0007873), GANGLIONEUROMA(HP:0003005), HIGH-ARCHED PALATE(HP:0000156), ANAL ATRESIA(HP:0002023), BREAST CANCER(HP:0003002), HAMARTOMATOUS POLYPS(HP:0004390), SPINAL CORD COMPRESSION(HP:0002176), APLASIA OF THE THUMB(HP:0009777), HYPERTROPHY OF SKIN OF SOLES(HP:0007403), HYDROCELE(HP:0000034), CATARACT(HP:0000518), MUSCULAR HYPOTONIA(HP:0001252), INTUSSUSCEPTION(HP:0002576), SEIZURES(HP:0001250), MENTAL RETARDATION, MODERATE(HP:0002342), ENLARGED PENIS(HP:0000040), GLIOMA(HP:0009733), AMBLYOPIA(HP:0000646), MICROSTOMIA(HP:0000160), HEMIHYPERTROPHY(HP:0001528), THICK CORPUS CALLOSUM(HP:0007074), CARDIAC MALFORMATION(HP:0002564), STILLBIRTH(HP:0001624), INTENTION TREMOR(HP:0002080), SPINAL STENOSIS(HP:0008446), GYNECOMASTIA(HP:0000771), JOINT HYPERMOBILITY(HP:0001382), MACROCEPHALY, PROGRESSIVE(HP:0004481), EPIBULBAR DERMOIDS(HP:0001140), RESPIRATORY INSUFFICIENCY(HP:0002093), PSEUDOPAPILLEDEMA(HP:0000538), ABNORMALITY OF THE CHROMOSOMES(HP:0002916), TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), POSTNATAL GROWTH DECELERATION(HP:0008868), HYPOPIGMENTATION OF THE SKIN(HP:0001010), HEMANGIOMAS(HP:0001028), MANDIBULAR HYPOPLASIA(HP:0000347), HYPEROSTOSES OF CALVARIA, FACIAL BONES, AND MANDIBLE(HP:0004472), ANGIOKERATOMA(HP:0001014), SUBCUTANEOUS LIPOMAS(HP:0001031), COLON DIVERTICULA(HP:0002253), SPEECH DELAY(HP:0002117), FURROWED TONGUE(HP:0000221), HYPOPLASIA OF THE MAXILLA(HP:0000327), DEPIGMENTATION/HYPERPIGMENTATION(HP:0007483), PECTUS EXCAVATUM(HP:0000767), HASHIMOTO THYROIDITIS(HP:0000872), FOLLICULAR THYROID CARCINOMA(HP:0006731), RENAL HYPOPLASIA(HP:0000089), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), ISOLATED CASES(HP:0001420), OVERGROWTH(HP:0001548), HYDROCEPHALUS(HP:0000238), THYROID ADENOMA(HP:0000854), GOITER(HP:0000853), AQUEDUCTAL STENOSIS(HP:0002410), SUPERNUMERARY NIPPLES(HP:0002558), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), EARLY ONSET(HP:0003593), HYPERTHYROIDISM(HP:0000836), PALMOPLANTAR HYPERKERATOSIS(HP:0000972), HEARING LOSS(HP:0000365), STRABISMUS(HP:0000486), BIRTH LENGTH GREATER THAN 97TH PERCENTILE(HP:0003517)]
5740	PTGIS	[MULTIFACTORIAL(HP:0001426), ELEVATED SYSTOLIC BLOOD PRESSURE(HP:0004421), ELEVATED DIASTOLIC BLOOD PRESSURE(HP:0005117), ELEVATED MEAN ARTERIAL PRESSURE(HP:0004972)]
5741	PTH	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOPARATHYROIDISM(HP:0000829), CATARACT(HP:0000518), SEIZURES(HP:0001250), INTRACEREBRAL CALCIFICATION ON CT SCAN(HP:0005806), HYPOCALCEMIA(HP:0002901), HYPERPHOSPHATEMIA(HP:0002905)]
5742	PTGS1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMAL PLATELET AGGREGATION(HP:0003540), RETINAL HEMORRHAGE(HP:0000573), BLEEDING DIATHESIS(HP:0001892), SEVERE PROTRACTED BLEEDING AFTER SURGERY(HP:0004846), ECCHYMOSES(HP:0000978)]
5745	PTH1R	[MALAR HYPOPLASIA(HP:0000272), CONTRACTURES(HP:0001371), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MICROMELIA(HP:0002983), MULTIPLE ENCHONDROMATOSIS(HP:0005701), KNEE CONTRACTURES(HP:0002978), THICK SKULL BASE(HP:0002737), HIP CONTRACTURES(HP:0003273), FAILURE OF ERUPTION OF PERMANENT TEETH(HP:0006309), PARATHYROID HORMONE ABSENT TO LOW(HP:0008292), HYPERTELORISM(HP:0000316), STILLBORN OR DEATH SHORTLY AFTER BIRTH(HP:0001625), SHORT RIBS(HP:0000773), PROMINENT EYES(HP:0000536), PREMATURE BIRTH(HP:0001622), PROMINENT SUPRAORBITAL ARCHES IN ADULT(HP:0004676), MANDIBULAR HYPOPLASIA(HP:0000347), HEMANGIOMAS(HP:0001028), MALPOSITION OF TEETH(HP:0001569), LARYNGEAL CALCIFICATIONS(HP:0008754), WADDLING GAIT(HP:0002515), ADVANCED TARSAL OSSIFICATION(HP:0008108), METAPHYSEAL FLARING(HP:0003015), POLYHYDRAMNIOS(HP:0001561), SHORT STATURE, SEVERE(HP:0003510), SHORT LONG BONES(HP:0003026), PERSISTENCE OF DECIDUOUS TEETH(HP:0006341), RENAL TUBULAR DYSFUNCTION(HP:0000124), PATHOLOGIC FRACTURE(HP:0002756), NEPHROCALCINOSIS(HP:0000121), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), DEAFNESS(HP:0000404), OSTEOPENIA(HP:0000938), HYDROPS FETALIS(HP:0001789), ADVANCED MATURATION/ADVANCED OSSIFICATION OF CARPAL BONES(HP:0004233), ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925), METAPHYSEAL CHONDRODYSPLASIA(HP:0005871), METAPHYSEAL ENCHONDROMATOSIS(HP:0005868), CLINODACTYLY OF HANDS(HP:0001157), HYPERCALCEMIA(HP:0003072), CHOANAL ATRESIA(HP:0000453), CHOANAL STENOSIS(HP:0000452), MICROGNATHIA(HP:0000210), SKELETAL DYSPLASIA(HP:0002652), HYPERCALCIURIA(HP:0002150), BOWING OF THE LONG BONES(HP:0006487), HYPOPHOSPHATEMIA(HP:0002148), BRACHYCEPHALY(HP:0000248), HYPERPHOSPHATURIA(HP:0003109)]
5781	PTPN11	[PULMONIC STENOSIS(HP:0001642), PATENT DUCTUS ARTERIOSUS(HP:0001643), KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), MITRAL VALVE PROLAPSE(HP:0001634), HYPOSMIA(HP:0004409), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), PARTIAL DEFICIENCY OF FACTOR XII:C(HP:0008286), PATENT FORAMEN OVALE(HP:0001655), CRYPTORCHIDISM(HP:0000028), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), MICROPENIS(HP:0000054), SPINA BIFIDA OCCULTA(HP:0003298), ATRIAL SEPTAL DEFECT(HP:0001631), ABNORMAL OR EXCESS NEVI(HP:0003764), HEMANGIOMAS(HP:0001028), MALE INFERTILITY(HP:0003251), EXOTROPIA(HP:0000577), HYPOPLASTIC OVARY(HP:0008724), UNILATERAL RENAL AGENESIS(HP:0000122), WIDE INTERMAMILLARY DISTANCE(HP:0006610), METACARPOPHALANGEAL JOINT HYPEREXTENSIBILITY(HP:0006099), SCAPULAR WINGING(HP:0003691), HIGH-ARCHED PALATE(HP:0000156), DENTAL MALOCCLUSION(HP:0000689), CLEFT PALATE(HP:0000175), DEVELOPMENTAL RETARDATION(HP:0001263), MENTAL RETARDATION, MILD(HP:0001256), MACROSTOMIA(HP:0000181), CLINODACTYLY OF HANDS(HP:0001157), BRACHYDACTYLY(HP:0001156), COMPLETE HEART BLOCK(HP:0001709), MICROGNATHIA(HP:0000210), LOW POSTERIOR HAIRLINE(HP:0002162), PARTIAL DEFICIENCY OF FACTOR XIII:C(HP:0008357), SUBAORTIC STENOSIS(HP:0001682), PARIETAL BOSSING(HP:0000242), DELAYED PUBERTY(HP:0000823), EPICANTHUS(HP:0000286), LIMITED ELBOW MOVEMENT(HP:0002996), BLEEDING DIATHESIS(HP:0001892), TRIANGULAR FACE WITH AGE(HP:0004645), HYPERTELORISM(HP:0000316), CUBITUS VALGUS(HP:0002967), MANDIBULAR PROGNATHIA(HP:0000303), WIDOW'S PEAK(HP:0000349), LOW-SET, POSTERIORLY ROTATED EARS(HP:0000368), CAFE-AU-LAIT SPOTS(HP:0000957), PROMINENT EARS(HP:0000412), HEARING LOSS, SENSORINEURAL(HP:0000407), MISSING RIBS(HP:0000921), PECTUS CARINATUM SUPERIORLY(HP:0000917), SHIELD CHEST(HP:0000914), PECTUS EXCAVATUM INFERIORLY(HP:0000915), FAILURE TO THRIVE IN INFANCY(HP:0001531), BROAD NASAL BRIDGE(HP:0000431), CYSTIC HYGROMA OF THE NECK(HP:0000476), HETEROGENEOUS(HP:0001425), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), WEBBED NECK(HP:0000465), MULTIPLE LENTIGINES(HP:0001003), LYMPHEDEMA(HP:0001004), PTOSIS(HP:0000508), AMEGAKARYOCYTIC THROMBOCYTOPENIA(HP:0004859), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), LOW NORMAL INTELLIGENCE(HP:0007180)]
5795	PTPRJ	[TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), UTERINE LEIOMYOSARCOMA(HP:0002891), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716)]
5805	PTS	[MUSCULAR HYPOTONIA(HP:0001252), METABOLISM ABNORMALITY(HP:0001939), SEIZURES(HP:0001250), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MOTOR RETARDATION(HP:0001270), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
5817	PVR	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715)]
5818	PVRL1	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANODONTIA(HP:0000674), MICRODONTIA(HP:0000691), SPARSE EYELASHES(HP:0000653), CLEFT PALATE(HP:0000175), HYPODONTIA(HP:0000668), ABNORMALITY OF THE PHILTRUM(HP:0000288), SPARSE EYEBROWS(HP:0000535), CUTANEOUS SYNDACTYLY OF THE TOES(HP:0010621), CLEFT LIP(HP:0000204), TRIANGULAR FACIES(HP:0000325), NAIL DYSPLASIA(HP:0002164), HYPOTRICHOSIS, PROGRESSIVE(HP:0002296), PALMOPLANTAR HYPERKERATOSIS(HP:0000972), ABNORMALITY OF THE EARS(HP:0000598), CUTANEOUS SYNDACTYLY OF THE FINGERS(HP:0010554)]
5824	PEX19	[DELAYED SKELETAL MATURATION(HP:0002750), PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BRUSHFIELD SPOTS(HP:0001088), PROLONGED NEONATAL JAUNDICE(HP:0006579), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), OCCIPITAL PLAGIOCEPHALY(HP:0005469), ABNORMAL ELECTRORETINOGRAM(HP:0000512), CORNEAL CLOUDING(HP:0000515), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), REDUNDANT SKIN FOLDS OF NECK(HP:0005996), CLITOROMEGALY(HP:0000057), PALE OPTIC DISKS(HP:0000543), BELL-SHAPED CHEST(HP:0001591), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), PIGMENTARY RETINOPATHY(HP:0000580), UPSLANTING PALPEBRAL FISSURES(HP:0000582), HETEROTOPIA(HP:0002282), HYDRONEPHROSIS(HP:0000126), TALIPES EQUINOVARUS(HP:0001762), HIGH-ARCHED PALATE(HP:0000156), MACROGLOSSIA(HP:0000158), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), HYPOREFLEXIA(HP:0001265), PULMONARY HYPOPLASIA(HP:0002089), POLYMICROGYRIA(HP:0002126), MICROGNATHIA(HP:0000210), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), BRACHYTURRICEPHALY(HP:0000244), MALAR HYPOPLASIA(HP:0000272), EPICANTHUS(HP:0000286), MACROCEPHALY(HP:0000256), INTRAHEPATIC BILIARY DYSGENESIS(HP:0001401), ROUND FACE(HP:0000311), REDUNDANT SKIN FOLDS(HP:0007391), HYPERTELORISM(HP:0000316), CUBITUS VALGUS(HP:0002967), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), HIGH FOREHEAD(HP:0000348), METATARSUS VARUS(HP:0001840), STIPPLING OF THE EPIPHYSES(HP:0010655), ABNORMALITY OF THE HELIX(HP:0000380), ADRENAL HYPOPLASIA(HP:0000835), POSTERIORLY ROTATED EARS(HP:0000358), HYPOPLASTIC OLFACTORY LOBES(HP:0006894), RENAL CORTICAL MICROCYSTS(HP:0004734), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), TRANSVERSE PALMAR CREASES(HP:0000954), HEARING LOSS, SENSORINEURAL(HP:0000407), FAILURE TO THRIVE(HP:0001508), ELEVATED LONG CHAIN FATTY ACIDS(HP:0003455), HYPOKINESIA(HP:0002375), NARES, ANTEVERTED(HP:0000463), CONGENITAL VERTICAL TALUS(HP:0010218), GLAUCOMA(HP:0000501), AMINOACIDURIA(HP:0002903), SUBEPENDYMAL CYSTS(HP:0002416)]
5825	ABCD3	[MALAR HYPOPLASIA(HP:0000272), OPTIC NERVE DYSPLASIA(HP:0001093), BRUSHFIELD SPOTS(HP:0001088), EPICANTHUS(HP:0000286), DOLICHOTURRICEPHALY(HP:0001356), MULTIPLE SMALL RENAL CORTICAL CYSTS(HP:0000814), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), INTRAHEPATIC BILIARY DYSGENESIS(HP:0001401), ROUND FACE(HP:0000311), CORNEAL CLOUDING(HP:0000515), HYPERTELORISM(HP:0000316), CUBITUS VALGUS(HP:0002967), CLITOROMEGALY(HP:0000057), THYMUS HYPOPLASIA(HP:0000778), HIGH FOREHEAD(HP:0000348), METATARSUS VARUS(HP:0001840), PUFFY EYELIDS(HP:0000626), AREFLEXIA(HP:0001284), LOW-SET EARS(HP:0000369), UPSLANTING PALPEBRAL FISSURES(HP:0000582), ABNORMALITY OF THE HELIX(HP:0000380), STIPPLED CHONDRAL CALCIFICATION(HP:0002764), TALIPES EQUINOVARUS(HP:0001762), POOR SUCK(HP:0002033), JAUNDICE(HP:0000952), TRANSVERSE PALMAR CREASES(HP:0000954), CAMPTODACTYLY (HANDS)(HP:0010563), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), APNEA(HP:0002104), CARDIAC MALFORMATION(HP:0002564), FAILURE TO THRIVE(HP:0001508), PRENATAL GROWTH DEFICIENCY(HP:0001515), EARLY DEATH(HP:0001432), HEPATOSPLENOMEGALY(HP:0001433), MULTIPLE RENAL CYSTS(HP:0005562), MICROGNATHIA(HP:0000210), LARGE FONTANELLES(HP:0000239), METABOLISM ABNORMALITY(HP:0001939)]
5828	PEX2	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), OPTIC NERVE DYSPLASIA(HP:0001093), RETINAL DYSTROPHY(HP:0000556), BRUSHFIELD SPOTS(HP:0001088), EPICANTHUS(HP:0000286), DOLICHOTURRICEPHALY(HP:0001356), MULTIPLE SMALL RENAL CORTICAL CYSTS(HP:0000814), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), ABNORMAL ELECTRORETINOGRAM(HP:0000512), INTRAHEPATIC BILIARY DYSGENESIS(HP:0001401), ROUND FACE(HP:0000311), VERY LONG CHAIN FATTY ACID ACCUMULATION(HP:0008167), CORNEAL CLOUDING(HP:0000515), DECREASED DEEP TENDON REFLEXES(HP:0002467), HYPERTELORISM(HP:0000316), HEMATOLOGICAL ABNORMALITY(HP:0001871), CUBITUS VALGUS(HP:0002967), CLITOROMEGALY(HP:0000057), THYMUS HYPOPLASIA(HP:0000778), MINOR FACIAL DYSMORPHISM(HP:0004675), HIGH FOREHEAD(HP:0000348), METATARSUS VARUS(HP:0001840), PACHYGYRIA(HP:0001302), PUFFY EYELIDS(HP:0000626), AREFLEXIA(HP:0001284), LOW-SET EARS(HP:0000369), UPSLANTING PALPEBRAL FISSURES(HP:0000582), ABNORMALITY OF THE HELIX(HP:0000380), STIPPLED CHONDRAL CALCIFICATION(HP:0002764), POOR SUCK(HP:0002033), TALIPES EQUINOVARUS(HP:0001762), JAUNDICE(HP:0000952), TRANSVERSE PALMAR CREASES(HP:0000954), CAMPTODACTYLY (HANDS)(HP:0010563), HEARING LOSS, SENSORINEURAL(HP:0000407), OSTEOPOROSIS(HP:0000939), HYPOCHOLESTEROLEMIA(HP:0003146), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), APNEA(HP:0002104), CARDIAC MALFORMATION(HP:0002564), POLYNEUROPATHY(HP:0001271), FAILURE TO THRIVE(HP:0001508), STEATORRHEA(HP:0002570), PRENATAL GROWTH DEFICIENCY(HP:0001515), BRAIN MACROGYRIA AND POLYMICROGYRIA(HP:0007227), EARLY DEATH(HP:0001432), MULTIPLE RENAL CYSTS(HP:0005562), HEPATOSPLENOMEGALY(HP:0001433), FLAT NOSE(HP:0000457), MICROGNATHIA(HP:0000210), LARGE FONTANELLES(HP:0000239), RETINITIS PIGMENTOSA(HP:0000510)]
5830	PEX5	[DELAYED SKELETAL MATURATION(HP:0002750), PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BRUSHFIELD SPOTS(HP:0001088), ESOTROPIA(HP:0000565), PROLONGED NEONATAL JAUNDICE(HP:0006579), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), OCCIPITAL PLAGIOCEPHALY(HP:0005469), ABNORMAL ELECTRORETINOGRAM(HP:0000512), CORNEAL CLOUDING(HP:0000515), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), REDUNDANT SKIN FOLDS OF NECK(HP:0005996), CLITOROMEGALY(HP:0000057), PALE OPTIC DISKS(HP:0000543), BELL-SHAPED CHEST(HP:0001591), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), PIGMENTARY RETINOPATHY(HP:0000580), UPSLANTING PALPEBRAL FISSURES(HP:0000582), HETEROTOPIA(HP:0002282), HYDRONEPHROSIS(HP:0000126), TALIPES EQUINOVARUS(HP:0001762), HIGH-ARCHED PALATE(HP:0000156), MACROGLOSSIA(HP:0000158), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), HYPOREFLEXIA(HP:0001265), PULMONARY HYPOPLASIA(HP:0002089), POLYMICROGYRIA(HP:0002126), MICROGNATHIA(HP:0000210), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), BRACHYTURRICEPHALY(HP:0000244), MALAR HYPOPLASIA(HP:0000272), EPICANTHUS(HP:0000286), MACROCEPHALY(HP:0000256), DOLICHOCEPHALY(HP:0000268), INTRAHEPATIC BILIARY DYSGENESIS(HP:0001401), ROUND FACE(HP:0000311), REDUNDANT SKIN FOLDS(HP:0007391), HYPERTELORISM(HP:0000316), CUBITUS VALGUS(HP:0002967), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), HIGH FOREHEAD(HP:0000348), METATARSUS VARUS(HP:0001840), STIPPLING OF THE EPIPHYSES(HP:0010655), LOW-SET EARS(HP:0000369), ABNORMALITY OF THE HELIX(HP:0000380), ADRENAL HYPOPLASIA(HP:0000835), POSTERIORLY ROTATED EARS(HP:0000358), HYPOPLASTIC OLFACTORY LOBES(HP:0006894), RENAL CORTICAL MICROCYSTS(HP:0004734), ADRENAL INSUFFICIENCY(HP:0000846), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), TRANSVERSE PALMAR CREASES(HP:0000954), HEARING LOSS, SENSORINEURAL(HP:0000407), FAILURE TO THRIVE(HP:0001508), ELEVATED LONG CHAIN FATTY ACIDS(HP:0003455), BROAD NASAL BRIDGE(HP:0000431), HYPOKINESIA(HP:0002375), NARES, ANTEVERTED(HP:0000463), CONGENITAL VERTICAL TALUS(HP:0010218), GLAUCOMA(HP:0000501), AMINOACIDURIA(HP:0002903), SUBEPENDYMAL CYSTS(HP:0002416)]
5836	PYGL	[INCREASED LIVER GLYCOGEN CONTENT(HP:0006568), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE HYPOGLYCEMIA(HP:0003356), GROWTH RETARDATION AS CHILDREN(HP:0008918), VARIABLE HYPERLIPIDEMIA(HP:0008159), HEPATOMEGALY(HP:0002240)]
5837	PYGM	[MYOGLOBINURIA(HP:0002913), MUSCLE PAIN AND CRAMPS FOLLOWING EXERCISE(HP:0008983), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYALGIA(HP:0003326), ABNORMALITY OF THE URINARY TRACT(HP:0000079), RHABDOMYOLYSIS(HP:0003201), INCREASED CREATINE KINASE(HP:0003078)]
5860	QDPR	[MYOCLONUS(HP:0001336), MUSCULAR HYPOTONIA(HP:0001252), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SPASTICITY(HP:0001257)]
5873	RAB27A	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ACCUMULATION OF MELANOSOMES IN MELANOCYTES(HP:0001008), HYPOPIGMENTATION OF THE SKIN(HP:0001010), FREQUENT PYOGENIC INFECTIONS(HP:0005355), DEATH IN CHILDHOOD(HP:0003819), SEIZURES(HP:0001250), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), SPASTICITY(HP:0001257), SILVER-GRAY HAIR(HP:0002218), REDUCED DELAYED HYPERSENSITIVITY(HP:0002972), MELANIN PIGMENT AGGREGATION IN HAIR SHAFTS(HP:0002220), ABNORMALITY OF THE CEREBELLUM(HP:0001317), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579)]
5896	RAG1	[INCREASED FREQUENCY OF BACTERIAL, VIRAL, AND FUNGAL INFECTIONS(HP:0005350), IRITIS(HP:0001101), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), ARTHRITIS(HP:0001369), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABSENT B CELLS(HP:0002856), ABSENT PERIPHERAL BLOOD B CELLS(HP:0005365), ANEMIA(HP:0001903), MASTOIDITIS(HP:0000265), ABNORMALITY OF THE FACE(HP:0000271), PANHYPOGAMMAGLOBULINEMIA(HP:0003139), OTITIS MEDIA(HP:0000388), LYMPHADENOPATHY(HP:0002716), EOSINOPHILIA(HP:0001880), THROMBOCYTOPENIA(HP:0001873), DIARRHEA(HP:0002014), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), PNEUMONIA(HP:0002090), THYMUS HYPOPLASIA(HP:0000778), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), ERYTHRODERMA(HP:0001019), FREQUENT OPPORTUNISTIC INFECTIONS(HP:0005426), FAILURE TO THRIVE SECONDARY TO RECURRENT INFECTIONS(HP:0008866), ALOPECIA(HP:0001596), HYPOPROTEINEMIA(HP:0003075), HEPATOMEGALY(HP:0002240), MENINGITIS(HP:0001287), DECREASED NUMBER OF CD8+ T CELLS(HP:0005415), CONJUNCTIVITIS(HP:0000509), RESPIRATORY FUNCTION LOSS(HP:0005937), ABSENT PERIPHERAL BLOOD T CELLS(HP:0005379), SEVERE COMBINED IMMUNODEFICIENCY(HP:0004430)]
5897	RAG2	[INCREASED FREQUENCY OF BACTERIAL, VIRAL, AND FUNGAL INFECTIONS(HP:0005350), IRITIS(HP:0001101), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), ARTHRITIS(HP:0001369), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABSENT B CELLS(HP:0002856), ABSENT PERIPHERAL BLOOD B CELLS(HP:0005365), ANEMIA(HP:0001903), MASTOIDITIS(HP:0000265), ABNORMALITY OF THE FACE(HP:0000271), PANHYPOGAMMAGLOBULINEMIA(HP:0003139), OTITIS MEDIA(HP:0000388), LYMPHADENOPATHY(HP:0002716), EOSINOPHILIA(HP:0001880), THROMBOCYTOPENIA(HP:0001873), DIARRHEA(HP:0002014), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), PNEUMONIA(HP:0002090), THYMUS HYPOPLASIA(HP:0000778), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), ERYTHRODERMA(HP:0001019), FREQUENT OPPORTUNISTIC INFECTIONS(HP:0005426), FAILURE TO THRIVE SECONDARY TO RECURRENT INFECTIONS(HP:0008866), ALOPECIA(HP:0001596), HYPOPROTEINEMIA(HP:0003075), HEPATOMEGALY(HP:0002240), MENINGITIS(HP:0001287), DECREASED NUMBER OF CD8+ T CELLS(HP:0005415), CONJUNCTIVITIS(HP:0000509), RESPIRATORY FUNCTION LOSS(HP:0005937), ABSENT PERIPHERAL BLOOD T CELLS(HP:0005379), SEVERE COMBINED IMMUNODEFICIENCY(HP:0004430)]
5913	RAPSN	[RESPIRATORY FAILURE REQUIRING ASSISTED VENTILATION(HP:0004887), SMALL, POSTERIORLY ROTATED EARS(HP:0008535), RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), LONG FACE(HP:0000276), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE SEVERITY(HP:0003814), CRYPTORCHIDISM(HP:0000028), WEAK CRY(HP:0001612), TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554), IMMUNOLOGICAL ABNORMALITY(HP:0002715), HYPERTELORISM(HP:0000316), STILLBIRTH(HP:0001624), GENERALIZED WEAKNESS OF LIMB MUSCLES(HP:0009028), ONSET IN INFANCY(HP:0003576), PROMINENT EYES(HP:0000536), ONSET IN CHILDHOOD(HP:0003578), PREMATURE BIRTH(HP:0001622), MANDIBULAR PROGNATHIA(HP:0000303), LONG PHILTRUM(HP:0000343), THIN RIBS(HP:0000883), FACIAL MUSCLE WEAKNESS(HP:0010628), ARTHROGRYPOSIS MAY OCCUR(HP:0005663), ELBOW ANKYLOSIS(HP:0003070), SMALL CHEST(HP:0001590), BULBAR PALSY(HP:0001283), THIN, GRACILE LONG BONES(HP:0003060), BLEPHAROPHIMOSIS(HP:0000581), ABSENT SEPTUM PELLUCIDUM(HP:0001331), CEREBELLAR HYPOPLASIA(HP:0001321), POLYHYDRAMNIOS(HP:0001561), OPHTHALMOPARESIS(HP:0000597), DECREASED FETAL MOVEMENT(HP:0001558), ARTHROGRYPOSIS MULTIPLEX IN SEVERE CASES(HP:0002759), NEONATAL HYPOTONIA(HP:0001319), TALIPES EQUINOVARUS(HP:0001762), EMG SHOWS DECREMENTAL RESPONSE OF COMPOUND MUSCLE ACTION POTENTIAL (CMAP) TO REPETITIVE NERVE STIMULATION(HP:0003403), CAMPTODACTYLY (HANDS)(HP:0010563), WEAKNESS(HP:0002309), MUSCLE CRAMPS(HP:0003394), NEUROGENIC MUSCLE ATROPHY(HP:0003702), HIGH-ARCHED PALATE(HP:0000156), FEEDING DIFFICULTIES(HP:0002022), NONPROGRESSIVE DISORDER(HP:0003680), RIGIDITY(HP:0002063), DENTAL MALOCCLUSION(HP:0000689), DECREASED MUSCLE MASS(HP:0003199), CLEFT PALATE(HP:0000175), DIPLOPIA(HP:0000651), GENERALIZED MUSCLE WEAKNESS DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003428), MICROSTOMIA(HP:0000160), DYSARTHRIA(HP:0001260), APNEA(HP:0002104), FLAT NASAL TIP(HP:0000437), DYSPHAGIA(HP:0002015), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), LOW BIRTH WEIGHT(HP:0001518), PULMONARY HYPOPLASIA(HP:0002089), MUSCLE BIOPSY SHOWS DECREASED SIZE OF NERVE TERMINALS(HP:0003443), SHORT NECK(HP:0000470), SMALL OR ABNORMAL PLACENTA(HP:0006266), CAVUM SEPTUM PELLUCIDUM(HP:0002389), CONGENITAL VERTICAL TALUS(HP:0010218), POLYMICROGYRIA(HP:0002126), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), HYDROCEPHALUS(HP:0000238), ABNORMALITY OF THE PELVIS(HP:0002644), TELECANTHUS(HP:0000506), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), SHORT UMBILICAL CORD(HP:0001196), FEVER(HP:0001945), EASY FATIGABILITY(HP:0003388), GOWER SIGN(HP:0003391), STRABISMUS(HP:0000486)]
5914	RARA	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ACUTE PROMYELOCYTIC LEUKEMIA(HP:0004836)]
5925	RB1	[RETINAL CALCIFICATION(HP:0007862), TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), CLEFT PALATE(HP:0000175), METABOLISM ABNORMALITY(HP:0001939), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BLADDER CARCINOMA(HP:0002862), LEUKEMIA(HP:0001909), LEUKOCORIA(HP:0000555), VITREOUS HEMORRHAGE(HP:0007902), LYMPHOMA(HP:0002665), OSTEOGENIC SARCOMA(HP:0002669), ISOLATED CASES(HP:0001420)]
5950	RBP4	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IRIS COLOBOMA(HP:0000612), ABNORMALITY OF THE SKIN(HP:0000951), METABOLISM ABNORMALITY(HP:0001939), MILDLY REDUCED VISUAL ACUITY(HP:0007739), SEVERELY DECREASED TO EXTINGUISHED EOG(HP:0008179), PATCHY ATROPHY OF THE RETINAL PIGMENT EPITHELIUM(HP:0007791)]
5956	OPN1LW	[PROGRESSIVE MACULAR SCARRING(HP:0007949), ALMOST COMPLETE COLORBLINDNESS EXCEPT ABILITY TO SEE BLUE(HP:0007939), COLORBLINDNESS, PARTIAL, PROTAN SERIES(HP:0200018), RED SERIES DEFECT(HP:0200019), X-LINKED INHERITANCE(HP:0001417), POOR COLOR DISCRIMINATION(HP:0007954)]
5957	RCVRN	[ABNORMALITY OF THE EYES(HP:0000478), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
5959	RDH5	[RETINAL PIGMENTARY DYSTROPHY(HP:0008036), NIGHT BLINDNESS(HP:0000662)]
5961	PRPH2	[PERICENTRAL SCOTOMAS(HP:0007761), RETINAL PIGMENT EPITHELIAL ATROPHY(HP:0007698), MACRORETICULAR RETINAL DYSTROPHY(HP:0007963), VITELLIFORM MACULAR DYSTROPHY(HP:0007677), X-LINKED INHERITANCE(HP:0001417), RETINITIS PIGMENTOSA(HP:0000510), ABNORMAL ELECTRORETINOGRAM(HP:0000512), IMPAIRED VISION(HP:0000505), RETINAL PIGMENTARY DYSTROPHY(HP:0008036), PERIPHERAL VISUAL FIELD LOSS(HP:0007994), ONSET IN ADULTHOOD(HP:0003581), NIGHT BLINDNESS(HP:0000662), RETICULAR RETINAL DYSTROPHY(HP:0007913), BUTTERFLY RETINAL PIGMENT EPITHELIAL DYSTROPHY(HP:0007783), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
5962	RDX	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), PRELINGUAL ONSET(HP:0003631), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
5967	REG1A	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CHRONIC CALCIFYING PANCREATITIS(HP:0005236)]
5972	REN	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ENDOCRINE ABNORMALITY(HP:0000818), ABNORMALITY OF THE URINARY TRACT(HP:0000079), METABOLISM ABNORMALITY(HP:0001939), POTTER FACIES(HP:0002009), MICROCEPHALY(HP:0000252), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), RESPIRATORY ABNORMALITY(HP:0002086), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492)]
5973	RENBP	[ENDOCRINE ABNORMALITY(HP:0000818), X-LINKED INHERITANCE(HP:0001417)]
5979	RET	[CAFE-AU-LAIT SPOTS(HP:0000957), PES CAVUS(HP:0001761), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONGESTIVE HEART FAILURE(HP:0001635), HYPERTENSIVE RETINOPATHY(HP:0001095), ELEVATED CALCITONIN(HP:0003528), GANGLIONEUROMA(HP:0003005), CONSTIPATION(HP:0002019), ENTEROCOLITIS(HP:0004387), ABDOMINAL DISTENTION(HP:0003270), MEDULLARY THYROID CARCINOMA(HP:0002865), HIGH-ARCHED PALATE(HP:0000156), RECEDING CHIN(HP:0002053), BARIUM ENEMA SHOWS TRANSITION ZONE BETWEEN AGANGLIONIC CONTRACTED SEGMENT AND DILATED PROXIMAL BOWEL(HP:0002606), BICORNUATE UTERUS(HP:0000813), THICK EYEBROWS(HP:0000574), TACHYCARDIA(HP:0001649), VAGINAL ATRESIA(HP:0000148), PROXIMAL FEMORAL EPIPHYSIOLYSIS(HP:0006461), MYOPATHY(HP:0003198), FULL LIPS(HP:0000170), MUSCULAR HYPOTONIA(HP:0001252), CONGENITAL CATARACT(HP:0000519), PRIMARY AMENORRHEA(HP:0000786), DEVELOPMENTAL RETARDATION(HP:0001263), DIARRHEA(HP:0002014), HYPERTELORISM(HP:0000316), VOMITING(HP:0002013), FAILURE TO THRIVE IN INFANCY(HP:0001531), JOINT LAXITY(HP:0001388), POSITIVE REGITINE TEST(HP:0003574), NODULAR GOITER(HP:0005994), DOLICHOSTENOMELIA(HP:0001519), PULMONARY HYPOPLASIA(HP:0002089), KYPHOSIS(HP:0002808), INCREASED URINARY EPINEPHRINE(HP:0003639), HEMANGIOMAS(HP:0001028), PARATHYROID HYPERPLASIA(HP:0008208), PECTUS EXCAVATUM(HP:0000767), CONGENITAL MEGACOLON(HP:0002251), HYPERCALCEMIA(HP:0003072), PHEOCHROMOCYTOMA(HP:0002666), PROTEINURIA(HP:0000093), ELEVATED URINARY NOREPINEPHRINE(HP:0003345), LORDOSIS(HP:0002939), EPISODIC HYPERTENSION(HP:0000875), CUSHING SYNDROME(HP:0000850), LOW-SET EARS(HP:0000369), CEREBRAL HEMORRHAGE(HP:0001342), SCOLIOSIS(HP:0002650), RENAL AGENESIS(HP:0000104), PARATHYROID ADENOMA(HP:0002897), POSTERIORLY ROTATED EARS(HP:0000358), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), RENAL DYSPLASIA/APLASIA(HP:0004721), HYPERHIDROSIS(HP:0000975), RENAL ARTERY STENOSIS(HP:0001920), OLIGOHYDRAMNIOS(HP:0001562), HYPERPARATHYROIDISM(HP:0000843)]
5993	RFX5	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RECURRENT URINARY TRACT INFECTIONS(HP:0000010), VIRAL HEPATITIS(HP:0006562), CHRONIC LYMPHOCYTIC MENINGITIS(HP:0007041), PROTRACTED DIARRHEA(HP:0004385), CHRONIC MUCOCUTANEOUS CANDIDIASIS(HP:0002728), MALABSORPTION(HP:0002024), PANHYPOGAMMAGLOBULINEMIA(HP:0003139), SEVERE COLITIS(HP:0002583), NEUTROPENIA(HP:0001875), FAILURE TO THRIVE(HP:0001508), LACK OF DELAYED SKIN HYPERSENSITIVITY REACTION(HP:0005427), RECURRENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0002788), RECURRENT LOWER RESPIRATORY TRACT INFECTIONS(HP:0002783), FREQUENT BACTERIAL, VIRAL, PROTOZOAN, AND FUNGAL INFECTIONS(HP:0005386), BILIARY TRACT ABNORMALITY(HP:0001080)]
5994	RFXAP	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RECURRENT URINARY TRACT INFECTIONS(HP:0000010), VIRAL HEPATITIS(HP:0006562), CHRONIC LYMPHOCYTIC MENINGITIS(HP:0007041), PROTRACTED DIARRHEA(HP:0004385), CHRONIC MUCOCUTANEOUS CANDIDIASIS(HP:0002728), MALABSORPTION(HP:0002024), PANHYPOGAMMAGLOBULINEMIA(HP:0003139), SEVERE COLITIS(HP:0002583), NEUTROPENIA(HP:0001875), FAILURE TO THRIVE(HP:0001508), LACK OF DELAYED SKIN HYPERSENSITIVITY REACTION(HP:0005427), RECURRENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0002788), RECURRENT LOWER RESPIRATORY TRACT INFECTIONS(HP:0002783), FREQUENT BACTERIAL, VIRAL, PROTOZOAN, AND FUNGAL INFECTIONS(HP:0005386), BILIARY TRACT ABNORMALITY(HP:0001080)]
6005	RHAG	[INCREASED RED CELL OSMOTIC FRAGILITY(HP:0005502), JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), STOMATOCYTOSIS(HP:0004446), HEMOLYTIC ANEMIA(HP:0001878), UNCONJUGATED HYPERBILIRUBINEMIA(HP:0008282)]
6010	RHO	[RETINITIS PIGMENTOSA(HP:0000510), CATARACT(HP:0000518), FISHNET RETINAL PIGMENTATION(HP:0007801), ABNORMAL ELECTRORETINOGRAM(HP:0000512), PIGMENTARY RETINOPATHY(HP:0000580), METABOLISM ABNORMALITY(HP:0001939), NIGHT BLINDNESS AND ABNORMAL FUNDUS(HP:0007865), EARLY ONSET(HP:0003593), ONSET IN FIRST DECADE(HP:0003582), CONGENITAL STATIONARY NIGHT BLINDNESS(HP:0007642)]
6011	GRK1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGENITAL NIGHT BLINDNESS(HP:0007684)]
6017	RLBP1	[MACULAR DEGENERATION(HP:0000608), ABNORMAL ELECTRORETINOGRAM(HP:0000512), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL PIGMENTARY DYSTROPHY(HP:0008036), NIGHT BLINDNESS(HP:0000662)]
6023	RMRP	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FLARING OF LOWER RIB CAGE(HP:0006589), LYMPHOPENIA(HP:0001888), NEUTROPENIA(HP:0001875), GENERALIZED MUSCLE WEAKNESS(HP:0003324), HYPERTELORISM(HP:0000316), RHIZOMELIC SHORTENING(HP:0002968), CERVICAL SUBLUXATION(HP:0003308), LIMITED ELBOW EXTENSION(HP:0001377), GENU VARUS(HP:0003052), OCCASIONAL BRACHYCEPHALY(HP:0004479), NARROW VERTEBRAL INTERPEDICULAR DISTANCE(HP:0008450), CONGENITAL MEGACOLON(HP:0002251), BRACHYDACTYLY (FEET)(HP:0001831), JOINT LAXITY, MILD(HP:0002771), METAPHYSEAL FLARING(HP:0003015), SPARSE, FINE HAIR(HP:0002291), SHORT LONG BONES(HP:0003026), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), IRREGULAR METAPHYSES(HP:0003025), ESOPHAGEAL ATRESIA(HP:0002032), FINE, SPARSE, LIGHT-COLORED HAIR(HP:0004538), DELAYED MATURATION/DELAYED OSSIFICATION OF CARPAL BONES(HP:0001216), WEAKNESS(HP:0002309), METAPHYSEAL DYSPLASIA(HP:0000948), SPARSE EYEBROWS, EYELASHES, AND BEARD(HP:0004531), HYPOPLASTIC ILIA(HP:0000946), SUSCEPTIBILITY TO CHICKENPOX(HP:0005360), MALABSORPTION(HP:0002024), CELLULAR IMMUNODEFICIENCY(HP:0005374), SMALL EPIPHYSES(HP:0010585), PLATYSPONDYLY(HP:0000926), CERVICAL CORD COMPRESSION(HP:0002341), MENTAL RETARDATION(HP:0001249), SEVERELY DISPROPORTIONATE SHORT STATURE(HP:0008900), HYPODONTIA(HP:0000668), MACROCYTIC ANEMIA(HP:0001972), CONGENITAL HYPOPLASTIC ANEMIA(HP:0004810), CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230), INCREASED RISK OF MALIGNANCY(HP:0006741), BRACHYDACTYLY(HP:0001156), SHORT NECK(HP:0000470), J-SHAPED SELLA TURCICA(HP:0002680), CONGENITAL HEMOLYTIC ANEMIA(HP:0004804), SMALL HANDS(HP:0001165), SHORT-LIMB DWARFISM IDENTIFIABLE NEONATALLY(HP:0008894), METAPHYSEAL CUPPING OF METACARPALS(HP:0006028), LUMBAR HYPERLORDOSIS(HP:0002938), LYMPHOMA(HP:0002665), METABOLISM ABNORMALITY(HP:0001939), SCOLIOSIS(HP:0002650)]
6041	RNASEL	[EARLY ONSET(HP:0003593), NEOPLASIA(HP:0002664)]
6049	RNF6	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
6094	ROM1	[ABNORMALITY OF THE EYES(HP:0000478), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
6100	RP9	[RETINITIS PIGMENTOSA(HP:0000510), FISHNET RETINAL PIGMENTATION(HP:0007801), CONSTRICTED VISUAL FIELDS(HP:0001133), NIGHT BLINDNESS(HP:0000662), RETINAL 'BONE CORPUSCLE' PIGMENTATION(HP:0007644), USUALLY AUTOSOMAL DOMINANT(HP:0001455), ABSENT CONE AND ROD FUNCTIONS BY ELECTRORETINOGRAM(HP:0008280)]
6101	RP1	[RETINITIS PIGMENTOSA(HP:0000510), FISHNET RETINAL PIGMENTATION(HP:0007801), CONSTRICTED VISUAL FIELDS(HP:0001133), NIGHT BLINDNESS(HP:0000662), RETINAL 'BONE CORPUSCLE' PIGMENTATION(HP:0007644), USUALLY AUTOSOMAL DOMINANT(HP:0001455), ABSENT CONE AND ROD FUNCTIONS BY ELECTRORETINOGRAM(HP:0008280)]
6102	RP2	[CHOROIDAL DEGENERATION(HP:0007945), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), X-LINKED RECESSIVE INHERITANCE(HP:0001419), CATARACT(HP:0000518), RETINITIS PIGMENTOSA(HP:0000510), CONSTRICTED VISUAL FIELDS(HP:0001133), PIGMENTARY RETINOPATHY(HP:0000580), NIGHT BLINDNESS(HP:0000662)]
6103	RPGR	[PROGRESSIVE MACULAR SCARRING(HP:0007949), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), CHOROIDAL DEGENERATION(HP:0007945), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), PHOTOPHOBIA(HP:0000613), X-LINKED RECESSIVE INHERITANCE(HP:0001419), RETINITIS PIGMENTOSA(HP:0000510), CONSTRICTED VISUAL FIELDS(HP:0001133), PIGMENTARY RETINOPATHY(HP:0000580), IMPAIRED VISION(HP:0000505), METABOLISM ABNORMALITY(HP:0001939), NIGHT BLINDNESS(HP:0000662)]
6121	RPE65	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PHOTOPHOBIA(HP:0000613), FUNDUS ATROPHY(HP:0001099), BLINDNESS(HP:0000618), CENTRAL VISUAL LOSS(HP:0001091), KERATOCONUS(HP:0000563), EYE POKING(HP:0001483), CATARACT(HP:0000518), DECREASED ELECTRORETINOGRAM (ERG)(HP:0000654), PIGMENTARY RETINOPATHY(HP:0000580), MENTAL RETARDATION(HP:0001249), CEREBELLAR VERMIS HYPOPLASIA(HP:0001320)]
6191	RPS4X	[X-LINKED INHERITANCE(HP:0001417)]
6192	RPS4Y1	[Y-LINKED INHERITANCE(HP:0001450)]
6197	RPS6KA3	[DELAYED SKELETAL MATURATION(HP:0002750), COARSE FACIAL FEATURES(HP:0000280), THICK, EVERTED LOWER LIP(HP:0009086), INGUINAL HERNIA(HP:0000023), MITRAL REGURGITATION(HP:0001653), HYPERTELORISM(HP:0000316), PECTUS CARINATUM(HP:0000768), THICK NASAL SEPTUM(HP:0009746), MANDIBULAR PROGNATHIA(HP:0000303), HAIR ABNORMALITY(HP:0001595), LUMBAR KYPHOSIS(HP:0008454), WEIGHT LESS THAN 3RD PERCENTILE(HP:0001826), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), HYPERCONVEX FINGERNAILS(HP:0001812), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), WIDELY SPACED TEETH(HP:0000687), PES PLANUS(HP:0001763), UTERINE PROLAPSE(HP:0000139), RECTAL PROLAPSE(HP:0002035), TRANSVERSE PALMAR CREASES(HP:0000954), PROMINENT EARS(HP:0000412), HEARING LOSS, SENSORINEURAL(HP:0000407), NARROW ILIAC WINGS(HP:0002868), DELAYED CLOSURE OF THE ANTERIOR FONTANELLE(HP:0001476), ABSENT/HYPOPLASTIC TEETH(HP:0000688), DENTAL MALOCCLUSION(HP:0000689), 'DRUMSTICK' TERMINAL PHALANGES(HP:0006129), MUSCULAR HYPOTONIA(HP:0001252), BROAD NOSE(HP:0000445), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), HEAVY ARCHED EYEBROWS(HP:0007804), HYPODONTIA(HP:0000668), ABNORMALITY OF THE NASAL ALA(HP:0000429), NARROW PALATE(HP:0000189), COXA VALGA(HP:0002673), DECREASED BODY HEIGHT(HP:0004322), THICKENED CALVARIA(HP:0002684), BROAD HANDS(HP:0001169), VENTRICULOMEGALY(HP:0002119), PECTUS EXCAVATUM(HP:0000767), HIGH PALATE(HP:0000218), X-LINKED DOMINANT INHERITANCE(HP:0001423), TAPERED FINGERS(HP:0001182), HYPEREXTENSIBILITY OF THE FINGER JOINTS(HP:0001187), TELECANTHUS(HP:0000506), MICROCEPHALY(HP:0000252), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), CUTIS LAXA(HP:0000973), CUTIS MARMORATA(HP:0000965)]
6208	RPS14	[METABOLISM ABNORMALITY(HP:0001939), REFRACTORY ANEMIA(HP:0005505), REFRACTORY MACROCYTIC ANEMIA(HP:0004861), AUTOSOMAL DOMINANT CONTIGUOUS GENE SYNDROME(HP:0001452)]
6223	RPS19	[CONGENITAL HYPOPLASTIC ANEMIA(HP:0004810), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONGESTIVE HEART FAILURE(HP:0001635), ABNORMALITY OF THE SKIN(HP:0000951), RETICULOCYTOPENIA(HP:0001896), GROWTH RETARDATION(HP:0001510)]
6247	RS1	[SLOWLY PROGRESSIVE VISUAL LOSS(HP:0007753), CYSTIC RETINAL DEGENERATION(HP:0007667), X-LINKED INHERITANCE(HP:0001417), RETINAL ATROPHY(HP:0001105), CHOROIDAL SCLEROSIS(HP:0001150), DETACHED RETINA(HP:0000541), ELECTRORETINOGRAM SHOWS A REDUCED B-WAVE IN MOST CASES(HP:0007984)]
6261	RYR1	[PES PLANUS(HP:0001763), CONGENITAL HIP DISLOCATION(HP:0001374), KYPHOSCOLIOSIS(HP:0002751), MUSCLE BIOPSY SHOWS NONSPECIFIC MYOPATHIC CHANGES(HP:0003705), JOINT CONTRACTURES(HP:0001372), EXTERNAL OPHTHALMOPLEGIA(HP:0000544), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MEROSIN-POSITIVE BIOPSY(HP:0003708), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), OPHTHALMOPLEGIA PREDOMINANTLY AFFECTS UPWARD AND LATERAL GAZE(HP:0007762), PROXIMAL MUSCLE WEAKNESS(HP:0003701), MALIGNANT HYPERTHERMIA(HP:0002047), HIGH-ARCHED PALATE(HP:0000156), FEEDING DIFFICULTIES(HP:0002022), PHENOTYPIC VARIABILITY(HP:0003812), MUSCLE WEAKNESS, DIFFUSE(HP:0003686), HYDROPS FETALIS(HP:0001789), NONPROGRESSIVE OR SLOWLY PROGRESSIVE(HP:0003685), INCREASED VARIABILITY IN MUSCLE FIBER SIZE(HP:0003557), AXIAL MUSCLE WEAKNESS(HP:0003327), TYPE 1 MUSCLE FIBER PREDOMINANCE(HP:0003803), MINICORE REGIONS ARE POORLY DEFINED AND DO NOT EXTEND THROUGH ENTIRE FIBER LENGTH(HP:0003804), DYSTROPHIC CHANGES MAY BE PRESENT(HP:0003806), MOTOR RETARDATION(HP:0001270), LIGAMENTOUS LAXITY(HP:0001380), TYPE 1 AND TYPE 2 MUSCLE FIBERS WITH 'MINICORE' REGIONS OF SARCOMERIC DISORGANIZATION, LACK OF OXIDATIVE ACTIVITY, AND ABSENT MITOCHONDRIA(HP:0003787), ONSET IN INFANCY(HP:0003576), RESPIRATORY INSUFFICIENCY(HP:0002093), FACIAL MUSCLE WEAKNESS(HP:0010628), AMYOTROPHY(HP:0003202), EXERCISE-INDUCED MYALGIA(HP:0003738), POLYHYDRAMNIOS(HP:0001561), DECREASED FETAL MOVEMENT(HP:0001558), NEONATAL HYPOTONIA(HP:0001319)]
6262	RYR2	[METABOLISM ABNORMALITY(HP:0001939), EFFORT-INDUCED POLYMORPHIC VENTRICULAR TACHYCARDIAS(HP:0004758), VENTRICULAR ANEURYSMS(HP:0006698)]
6295	SAG	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGENITAL NIGHT BLINDNESS(HP:0007684)]
6299	SALL1	[HYPOTHYROIDISM(HP:0000821), MULTICYSTIC KIDNEY(HP:0000003), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TETRALOGY OF FALLOT(HP:0001636), CHORIORETINAL COLOBOMA(HP:0000567), 2-4 FINGER SYNDACTYLY(HP:0010709), CRYPTORCHIDISM(HP:0000028), 3-4 TOE SYNDACTYLY(HP:0009779), HYPOSPADIAS(HP:0000047), FIFTH TOE CLINODACTYLY(HP:0001864), BIFID SCROTUM(HP:0000048), VENTRICULAR SEPTAL DEFECT(HP:0001629), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), PREAURICULAR SINUS(HP:0004467), VESICOURETERAL REFLUX(HP:0000076), OVERFOLDING OF THE SUPERIOR HELICES(HP:0004453), 2-3 TOE SYNDACTYLY(HP:0004691), RENAL FAILURE(HP:0000083), DUODENAL ATRESIA(HP:0002247), RENAL HYPOPLASIA(HP:0000089), METATARSAL SYNOSTOSIS(HP:0008098), RENAL DYSPLASIA(HP:0000110), UMBILICAL HERNIA(HP:0001537), BIFID UTERUS(HP:0000136), RECTOVAGINAL FISTULA(HP:0000143), LARGE EARS(HP:0000400), APLASIA/HYPOPLASIA OF THE 3RD TOE(HP:0010331), HEARING LOSS, SENSORINEURAL(HP:0000407), PSEUDOEPIPHYSES OF SECOND METACARPAL(HP:0006179), MICROTIA(HP:0000393), GASTROESOPHAGEAL REFLUX(HP:0002020), ANAL ATRESIA(HP:0002023), ANAL STENOSIS(HP:0002025), PREAURICULAR SKIN TAG(HP:0000384), BROAD PHALANGES OF THE THUMB(HP:0009651), MENTAL RETARDATION(HP:0001249), TRIPHALANGEAL THUMB(HP:0001199), MICROCEPHALY(HP:0000252), PARTIAL DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009944)]
6302	TSPAN31	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LIPOMAS(HP:0001012)]
6303	SAT1	[CORNEAL DEGENERATION(HP:0007705), ABNORMALITY OF THE SKIN(HP:0000951), LOSS OF EYEBROWS, EYELASHES AND BEARD(HP:0004530), LOSS OF EYEBROWS AND EYELASHES(HP:0004520), ABNORMALITY OF THE NAILS(HP:0001597), ALOPECIA(HP:0001596), X-LINKED INHERITANCE(HP:0001417), BLEPHARITIS(HP:0000498), ECTROPION(HP:0000656)]
6309	SC5DL	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), CATARACT(HP:0000518), MENINGOMYELOCELE(HP:0002475), BUTTERFLY VERTEBRAE(HP:0003316), AMBIGUOUS GENITALIA, MALE(HP:0000033), INTRAHEPATIC CHOLESTASIS(HP:0001406), CORNEAL CLOUDING(HP:0000515), BITEMPORAL NARROWING(HP:0000314), LONG PHILTRUM(HP:0000343), SLOPING FOREHEAD(HP:0000340), HORSESHOE KIDNEY(HP:0000085), POSTAXIAL POLYDACTYLY (FEET)(HP:0001830), PATHOLOGIC FRACTURE(HP:0002756), TALIPES EQUINOVARUS(HP:0001762), ARNOLD-CHIARI MALFORMATION(HP:0002308), TOE SYNDACTYLY(HP:0001770), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), HEARING LOSS, CONDUCTIVE(HP:0000405), HIGH-ARCHED PALATE(HP:0000156), OSTEOPOROSIS(HP:0000939), CEREBRAL ATROPHY(HP:0002059), BILOBATE GALLBLADDER(HP:0005608), MUSCULAR HYPOTONIA(HP:0001252), NASAL HYPOPLASIA(HP:0003196), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), GROWTH RETARDATION(HP:0001510), BROAD NASAL BRIDGE(HP:0000431), SCHISTOCYTES(HP:0001981), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), HEPATOSPLENOMEGALY(HP:0001433), GINGIVAL HYPERTROPHY(HP:0000195), NARES, ANTEVERTED(HP:0000463), THIN LIPS(HP:0000213), PROMINENT UPPER LIP(HP:0000215), MICROGNATHIA(HP:0000210), ANISOPOIKILOCYTOSIS(HP:0004823), PTOSIS(HP:0000508), ELECTRON MICROSCOPY OF FOAM CELLS SHOWS LAMELLAR INCLUSIONS(HP:0003609), RED CELL ACANTHOCYTOSIS(HP:0001927), MICROCEPHALY(HP:0000252), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), ABNORMALITY OF CHOLESTEROL METABOLISM(HP:0003107), HYPERBILIRUBINEMIA(HP:0002904), ELEVATED TRANSAMINASES(HP:0002910)]
6310	ATXN1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EXTRAPYRAMIDAL SIGNS(HP:0002071), PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073), CHOREA(HP:0002072), DYSDIADOCHOKINESIS(HP:0002075), SPHINCTER DISTURBANCE(HP:0000018), HYPERREFLEXIA(HP:0001347), MUSCULAR HYPOTONIA(HP:0001252), OPTIC ATROPHY(HP:0000648), SLOW SACCADES(HP:0000514), DYSARTHRIA(HP:0001260), ONSET IN THIRD OR FOURTH DECADE(HP:0003669), DYSPHAGIA(HP:0002015), CORTICOSPINAL SIGNS(HP:0007225), COGNITIVE IMPAIRMENT, MILD(HP:0002129), DYSMETRIA(HP:0001310), SUPRANUCLEAR OPHTHALMOPLEGIA(HP:0000623), AMYOTROPHY(HP:0003202), PATERNAL ANTICIPATION BIAS(HP:0003744), BULBAR PALSY(HP:0001283), DORSAL COLUMN AND SPINOCEREBELLAR TRACT DEGENERATION(HP:0007006), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), OLIVOPONTOCEREBELLAR ATROPHY(HP:0002542), ABNORMAL MOTOR AND SENSORY NERVE CONDUCTION(HP:0003134), SCANNING SPEECH(HP:0002168), ABSENT DEEP TENDON REFLEXES(HP:0001314)]
6311	ATXN2	[BRADYKINESIA(HP:0002067), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LIMB ATAXIA(HP:0002070), PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073), DYSDIADOCHOKINESIS(HP:0002075), ENLARGED FOURTH VENTRICLE(HP:0002198), DISTAL AMYOTROPHY(HP:0003693), RIGIDITY(HP:0002063), MUSCULAR HYPOTONIA(HP:0001252), SLOW SACCADES(HP:0000514), DYSARTHRIA(HP:0001260), DYSMETRIC SACCADES(HP:0000641), GAZE-EVOKED NYSTAGMUS(HP:0000640), DYSPHAGIA(HP:0002015), FASCICULATION-LIKE MOVEMENTS(HP:0002468), SPASTICITY(HP:0001257), SPHINCTER DISTURBANCES (BLADDER)(HP:0002839), IMPAIRED HORIZONTAL SMOOTH PURSUIT(HP:0001151), HYPOREFLEXIA(HP:0001265), IMPAIRED VIBRATORY SENSE(HP:0002495), OCULOMOTOR APRAXIA(HP:0000657), DYSMETRIA(HP:0001310), SPINOCEREBELLAR TRACT DEGENERATION(HP:0002503), MYOCLONUS(HP:0001336), RETINITIS PIGMENTOSA(HP:0000510), OLIVOPONTOCEREBELLAR ATROPHY(HP:0002542), ACTION AND POSTURAL TREMOR(HP:0007197), GENETIC ANTICIPATION(HP:0003743), POSTURAL INSTABILITY(HP:0002172), OPHTHALMOPLEGIA(HP:0000602), DEMENTIA(HP:0000726)]
6314	ATXN7	[OROFACIAL DYSKINESIA(HP:0002310), EXTRAPYRAMIDAL SIGNS(HP:0002071), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073), CHOREA(HP:0002072), HYPERREFLEXIA(HP:0001347), OPTIC ATROPHY(HP:0000648), SLOW SACCADES(HP:0000514), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), SPASTICITY(HP:0001257), PROGRESSIVE VISUAL LOSS(HP:0000529), PIGMENTARY RETINAL DEGENERATION(HP:0001146), MACULAR DEGENERATION(HP:0000608), DYSMETRIA(HP:0001310), COGNITIVE IMPAIRMENT(HP:0002128), SUPRANUCLEAR OPHTHALMOPLEGIA(HP:0000623), PATERNAL ANTICIPATION BIAS(HP:0003744), BABINSKI SIGN(HP:0003487), COGNITIVE DECLINE(HP:0002303), OLIVOPONTOCEREBELLAR ATROPHY(HP:0002542)]
6315	ATXN8OS	[INCOORDINATION(HP:0002311), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073), ABNORMALITY OF OCULAR SMOOTH PURSUIT(HP:0000617), SENSORY NEUROPATHY(HP:0000763), NYSTAGMUS(HP:0000639), ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062), TREMOR(HP:0001337), SLOW SACCADES(HP:0000514), DYSARTHRIA(HP:0001260), DYSMETRIC SACCADES(HP:0000641), DYSPHAGIA(HP:0002015), SPASTICITY(HP:0001257), CEREBELLAR ATROPHY(HP:0001272)]
6323	SCN1A	[STATUS EPILEPTICUS(HP:0002133), UNILATERAL CLONIC SEIZURES(HP:0006813), FEBRILE SEIZURES(HP:0002373), HETEROGENEOUS(HP:0001425), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PHOTOPHOBIA(HP:0000613), MIGRAINE WITH AURA(HP:0002077), HYPERTONIC SEIZURES(HP:0002184), COMPLEX PARTIAL SEIZURES(HP:0002384), HYPOTONIC SEIZURES(HP:0002124), SEIZURES USUALLY LAST LESS THAN 15 MINUTES(HP:0002125), ABSENCE SEIZURES(HP:0002121), ONSET 3 MONTHS OF AGE UP TO 5 YEARS(HP:0003617), SEIZURES OCCUR IN ABSENCE OF INTRACRANIAL INFECTION OR DEFINED PATHOLOGIC OR TRAUMATIC CAUSE(HP:0002182), MYOCLONIC SEIZURES(HP:0002123), PSYCHOMOTOR RETARDATION(HP:0001255), HEMIPLEGIA(HP:0002301), ATAXIA(HP:0001251), SEIZURES, GENERALIZED, ASSOCIATED WITH FEVER(HP:0002175), FEVER(HP:0001945), MENTAL DETERIORATION(HP:0001268), ONSET IN FIRST YEAR OF LIFE(HP:0003599), HEMIPARESIS(HP:0001269), CHILDREN WILL DEVELOP AFEBRILE SEIZURE DISORDERS LATER IN LIFE(HP:0002431), EPILEPSY(HP:0001275)]
6326	SCN2A	[NORMAL INTERICTAL EEG(HP:0002372), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SEIZURES OCCUR IN CLUSTERS OVER 1 OR SEVERAL DAYS(HP:0002437), APNEA DURING SEIZURE SPELLS(HP:0002794), SECONDARY GENERALIZED TONIC-CLONIC SEIZURES(HP:0002602), CEREBROVASCULAR ACCIDENT(HP:0002452), RIGIDITY(HP:0002063), SEIZURES OFTEN BEGIN WITH HEAD AND EYE DEVIATION(HP:0002417), SEIZURES, PARTIAL, AFEBRILE(HP:0002358), STARING EPISODES DURING SEIZURES(HP:0002278), CYANOSIS(HP:0000961)]
6329	SCN4A	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MUSCLE WEAKNESS(HP:0001324), HIGHLY VARIABLE PHENOTYPE(HP:0003815), MYOTONIA(HP:0002486), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579)]
6331	SCN5A	[HETEROGENEOUS(HP:0001425), SUDDEN DEATH(HP:0001699), REDUCED SYSTOLIC FUNCTION(HP:0006673), IDIOPATHIC VENTRICULAR FIBRILLATION(HP:0005166), DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VENTRICULAR ESCAPE RHYTHMS(HP:0005155), STROKE(HP:0001297), PROLONGED QT INTERVAL ON EKG(HP:0001657), COMPLETE HEART BLOCK WITH BROAD RS COMPLEXES(HP:0005170), SUPRAVENTRICULAR TACHYARRHYTHMIAS(HP:0004755), LEFT ANTERIOR OR POSTERIOR HEMIBLOCK(HP:0005172), IRREGULAR HEART BEAT(HP:0001721), TORSADE DE POINTES(HP:0001664), ONSET IN UTERO(HP:0003660), SYNCOPE(HP:0001279), DYSPNEA(HP:0002094), SINUS BRADYCARDIA(HP:0001688)]
6335	SCN9A	[ISOLATED ABSENCE OF PAIN SENSATION(HP:0003404), FEBRILE SEIZURES(HP:0002373), HETEROGENEOUS(HP:0001425), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOSMIA(HP:0004409), ABNORMALITY OF THE ABDOMEN(HP:0001438), APATHY(HP:0000741), HYPERTONIC SEIZURES(HP:0002184), BRADYCARDIA(HP:0001662), ANOSMIA(HP:0000458), PAINLESS FRACTURES DUE TO INJURY(HP:0002661), HYPOTONIC SEIZURES(HP:0002124), SEIZURES USUALLY LAST LESS THAN 15 MINUTES(HP:0002125), ONSET IN NEONATAL PERIOD(HP:0003623), ONSET USUALLY IN CHILDHOOD OR ADOLESCENCE(HP:0003620), TACHYCARDIA(HP:0001649), LACRIMATION ABNORMALITY(HP:0000632), ONSET 3 MONTHS OF AGE UP TO 5 YEARS(HP:0003617), SEIZURES OCCUR IN ABSENCE OF INTRACRANIAL INFECTION OR DEFINED PATHOLOGIC OR TRAUMATIC CAUSE(HP:0002182), HYDROPS(HP:0000990), MUSCLE STIFFNESS(HP:0003552), MANDIBULAR PAIN(HP:0200025), METABOLISM ABNORMALITY(HP:0001939), OCULAR PAIN(HP:0200026), SEIZURES, GENERALIZED, ASSOCIATED WITH FEVER(HP:0002175), EDEMA(HP:0000969), CHILDREN WILL DEVELOP AFEBRILE SEIZURE DISORDERS LATER IN LIFE(HP:0002431), ONSET IN INFANCY(HP:0003576), EPILEPSY(HP:0001275), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
6337	SCNN1A	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FEEDING DIFFICULTIES(HP:0002022), VOMITING(HP:0002013), PSEUDOHYPOALDOSTERONISM(HP:0008242), HYPONATREMIA(HP:0002902), RENAL SALT WASTING(HP:0000127), ALSO A DOMINANT FORM(HP:0001448), HYPERKALEMIA(HP:0002153)]
6338	SCNN1B	[HYPERTENSION(HP:0000822), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RENAL FAILURE(HP:0000083), FEEDING DIFFICULTIES(HP:0002022), DECREASED RENIN(HP:0003351), HYPOKALEMIC ALKALOSIS(HP:0001949), BRONCHIECTASIS(HP:0002110), VOMITING(HP:0002013), PSEUDOHYPOALDOSTERONISM(HP:0008242), HYPONATREMIA(HP:0002902), HYPOALDOSTERONISM(HP:0000355), HYPOKALEMIA(HP:0002900), RENAL SALT WASTING(HP:0000127), ALSO A DOMINANT FORM(HP:0001448), HYPERKALEMIA(HP:0002153)]
6340	SCNN1G	[HYPERTENSION(HP:0000822), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RENAL FAILURE(HP:0000083), FEEDING DIFFICULTIES(HP:0002022), DECREASED RENIN(HP:0003351), HYPOKALEMIC ALKALOSIS(HP:0001949), VOMITING(HP:0002013), PSEUDOHYPOALDOSTERONISM(HP:0008242), HYPONATREMIA(HP:0002902), HYPOALDOSTERONISM(HP:0000355), HYPOKALEMIA(HP:0002900), RENAL SALT WASTING(HP:0000127), ALSO A DOMINANT FORM(HP:0001448), HYPERKALEMIA(HP:0002153)]
6389	SDHA	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), SPASTICITY(HP:0001257), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), PSYCHOMOTOR REGRESSION IN INFANTS(HP:0007247), LACTIC ACIDOSIS MAY OCCUR WITH STRESS OR INFECTION(HP:0004897), RESPIRATORY INSUFFICIENCY(HP:0002093), DECREASED ACTIVITY OF MITOCHONDRIAL COMPLEX II(HP:0008314), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), COGNITIVE IMPAIRMENT(HP:0002128), LEUKOENCEPHALOPATHY, PROGRESSIVE(HP:0006980), MILDLY INCREASED SERUM LACTATE(HP:0003638), DECREASED BODY HEIGHT(HP:0004322), RAGGED-RED MUSCLE FIBERS(HP:0003200), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), HYPERTRICHOSIS(HP:0000998), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), MYOCLONUS(HP:0001336), PIGMENTARY RETINOPATHY(HP:0000580), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), DYSTONIA(HP:0001332), MUSCLE WEAKNESS(HP:0001324), OPHTHALMOPLEGIA(HP:0000602), DEMYELINATION(HP:0003381), NEONATAL HYPOTONIA(HP:0001319)]
6390	SDHB	[CAFE-AU-LAIT SPOTS(HP:0000957), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEADACHE(HP:0002315), CONGESTIVE HEART FAILURE(HP:0001635), HYPERTENSIVE RETINOPATHY(HP:0001095), GLOMUS JUGULAR TUMORS(HP:0003001), PARAGANGLIOMAS, HEAD AND NECK(HP:0002864), TACHYCARDIA(HP:0001649), CONGENITAL CATARACT(HP:0000519), RENAL CELL CARCINOMA(HP:0005584), POSITIVE REGITINE TEST(HP:0003574), ONSET IN ADULTHOOD(HP:0003581), PHEOCHROMOCYTOMA, EXTRAADRENAL(HP:0006737), ANXIETY(HP:0000739), PHEOCHROMOCYTOMA, ADRENAL(HP:0006748), HEMANGIOMAS(HP:0001028), CRANIAL NERVE PALSIES CAN ARISE WITH HEAD AND NECK PARAGANGLIOMAS(HP:0002377), HYPERCALCEMIA(HP:0003072), PROTEINURIA(HP:0000093), ELEVATED URINARY NOREPINEPHRINE(HP:0003345), EPISODIC HYPERTENSION(HP:0000875), PALPITATIONS(HP:0001962), DIAPHORESIS(HP:0001064), CEREBRAL HEMORRHAGE(HP:0001342), PULSATILE TINNITUS(HP:0008629), HYPERHIDROSIS(HP:0000975), RENAL ARTERY STENOSIS(HP:0001920)]
6391	SDHC	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PARAGANGLIOMAS, HEAD AND NECK(HP:0002864), GLOMUS JUGULAR TUMORS(HP:0003001), HEADACHE (WITH PHEOCHROMOCYTOMA)(HP:0002331), TACHYCARDIA(HP:0001649), HOARSE VOICE (CAUSED BY TUMOR IMPINGEMENT)(HP:0001613), VOCAL CORD PARALYSIS(HP:0001605), VOCAL CORD PARALYSIS (CAUSED BY TUMOR IMPINGEMENT)(HP:0001606), ONSET IN ADULTHOOD(HP:0003581), PHEOCHROMOCYTOMA, EXTRAADRENAL(HP:0006737), DIAPHORESIS (WITH PHEOCHROMOCYTOMA)(HP:0001011), ELEVATED CATECHOLAMINES (IN PATIENTS WITH PHEOCHROMOCYTOMA)(HP:0003334), PHEOCHROMOCYTOMA, ADRENAL(HP:0006748), ANXIETY (WITH PHEOCHROMOCYTOMA)(HP:0000740), CRANIAL NERVE PALSIES CAN ARISE WITH HEAD AND NECK PARAGANGLIOMAS(HP:0002377), PALPITATIONS(HP:0001962), HYPERTENSION (WITH PHEOCHROMOCYTOMA)(HP:0002640), DIAPHORESIS(HP:0001064), PALPITATIONS (WITH PHEOCHROMOCYTOMA)(HP:0001676), MULTIPLE TUMORS(HP:0003008), TACHYCARDIA (WITH PHEOCHROMOCYTOMA)(HP:0001673), LOSS OF VOICE(HP:0001686), PULSATILE TINNITUS (TYMPANIC PARAGANGLIOMA)(HP:0000361)]
6392	SDHD	[PHEOCHROMOCYTOMA, EXTRAADRENAL(HP:0006737), CAFE-AU-LAIT SPOTS(HP:0000957), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONGESTIVE HEART FAILURE(HP:0001635), DIAPHORESIS (WITH PHEOCHROMOCYTOMA)(HP:0001011), HYPERTENSIVE RETINOPATHY(HP:0001095), HEMANGIOMAS(HP:0001028), ELEVATED CATECHOLAMINES (IN PATIENTS WITH PHEOCHROMOCYTOMA)(HP:0003334), PHEOCHROMOCYTOMA, ADRENAL(HP:0006748), CRANIAL NERVE PALSIES CAN ARISE WITH HEAD AND NECK PARAGANGLIOMAS(HP:0002377), ANXIETY (WITH PHEOCHROMOCYTOMA)(HP:0000740), HEARING LOSS, CONDUCTIVE(HP:0000405), INTESTINAL CARCINOID(HP:0006723), GLOMUS JUGULAR TUMORS(HP:0003001), PARAGANGLIOMAS, HEAD AND NECK(HP:0002864), PROTEINURIA(HP:0000093), HYPERCALCEMIA(HP:0003072), HEADACHE (WITH PHEOCHROMOCYTOMA)(HP:0002331), ELEVATED URINARY NOREPINEPHRINE(HP:0003345), TACHYCARDIA(HP:0001649), EPISODIC HYPERTENSION(HP:0000875), PALPITATIONS(HP:0001962), HYPERTENSION (WITH PHEOCHROMOCYTOMA)(HP:0002640), DIAPHORESIS(HP:0001064), CONGENITAL CATARACT(HP:0000519), VAGAL NERVE TUMORS (GLOMUS VAGALE)(HP:0002886), HOARSE VOICE (CAUSED BY TUMOR IMPINGEMENT)(HP:0001613), CEREBRAL HEMORRHAGE(HP:0001342), PALPITATIONS (WITH PHEOCHROMOCYTOMA)(HP:0001676), MULTIPLE TUMORS(HP:0003008), TACHYCARDIA (WITH PHEOCHROMOCYTOMA)(HP:0001673), VOCAL CORD PARALYSIS(HP:0001605), TYMPANIC NERVE TUMORS (GLOMUS TYMPANICUM)(HP:0002892), VOCAL CORD PARALYSIS (CAUSED BY TUMOR IMPINGEMENT)(HP:0001606), LOSS OF VOICE(HP:0001686), POSITIVE REGITINE TEST(HP:0003574), HYPERHIDROSIS(HP:0000975), RENAL ARTERY STENOSIS(HP:0001920), ONSET IN ADULTHOOD(HP:0003581), PULSATILE TINNITUS (TYMPANIC PARAGANGLIOMA)(HP:0000361)]
6399	TRAPPC2	[SHORT TRUNK(HP:0001524), PLATYSPONDYLY(HP:0000926), AGE OF ONSET(HP:0003674), CORNEAL CLOUDING(HP:0000515), ARTHRALGIA(HP:0002829), DECREASED MOBILITY OF JOINTS(HP:0001376), SMALL ILIAC WINGS(HP:0003169), KYPHOSIS(HP:0002808), COXA VARA(HP:0002812), SHORT NECK(HP:0000470), SMALL CAPITAL FEMORAL EPIPHYSES(HP:0003090), HUMP-SHAPED MOUND OF BONE IN CENTRAL AND POSTERIOR PORTIONS OF VERTEBRAL ENDPLATE(HP:0004594), X-LINKED RECESSIVE INHERITANCE(HP:0001419), SPONDYLOEPIPHYSEAL DYSPLASIA TARDA(HP:0005893), LUMBAR HYPERLORDOSIS(HP:0002938), HIP OSTEOARTHRITIS(HP:0008843), SCOLIOSIS(HP:0002650), SHORT FEMORAL NECK(HP:0003032), BARREL-SHAPED CHEST(HP:0001552)]
6439	SFTPB	[CLUBBING(HP:0001217), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IMMUNOLOGICAL ABNORMALITY(HP:0002715), CONGENITAL ALVEOLAR PROTEINOSIS(HP:0006517), PULMONARY INFILTRATES(HP:0002113), RESPIRATORY INSUFFICIENCY(HP:0002093)]
6441	SFTPD	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715)]
6442	SGCA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), UNSTEADY GAIT(HP:0002317), LIMB-GIRDLE MUSCULAR DYSTROPHY(HP:0006785), SCOLIOSIS(HP:0002650), LIMB-GIRDLE MUSCLE WEAKNESS(HP:0003325), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), MUSCULAR DYSTROPHY(HP:0003560), CALF MUSCLE HYPERTROPHY(HP:0009024), INCREASED SERUM CREATINE KINASE(HP:0002147), ONSET IN CHILDHOOD(HP:0003578)]
6443	SGCB	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), SCAPULAR WINGING(HP:0003691), LOW BACK PAIN(HP:0003419), VARIABLE PROGRESSION RATE(HP:0003682), LIMB-GIRDLE MUSCULAR DYSTROPHY(HP:0006785), MUSCULAR DYSTROPHY(HP:0003560), ONSET USUALLY IN CHILDHOOD BUT SOMETIMES TO MIDDLE AGE(HP:0003670), JOINT CONTRACTURES LATE(HP:0001381), EMG MYOPATHIC ABNORMALITIES(HP:0003458), HETEROGENEOUS(HP:0001425), FACIAL MUSCLE WEAKNESS, LATE(HP:0002259), PELVIC GIRDLE MUSCLE ATROPHY(HP:0008988), ELEVATED SERUM CREATINE PHOSPHOKINASE(HP:0003236), SHOULDER GIRDLE MUSCLE ATROPHY(HP:0003724)]
6445	SGCG	[CALF MUSCLE PSEUDOHYPERTROPHY(HP:0003707), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AMYOTROPHY(HP:0003202), RIGHT VENTRICULAR DILATATION(HP:0005133), RIGHT VENTRICULAR HYPERTROPHY(HP:0001667), RAPIDLY PROGRESSIVE(HP:0003678), SCOLIOSIS(HP:0002650), MUSCLE FIBER NECROSIS(HP:0003713), INCREASED SERUM CREATINE KINASE(HP:0002147), GOWER SIGN(HP:0003391), PNEUMONIA(HP:0002090), RESTRICTIVE LUNG DISEASE(HP:0002091), HYPERLORDOSIS(HP:0003307)]
6448	SGSH	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILDLY COARSE FACIES(HP:0000281), DYSOSTOSIS MULTIPLEX(HP:0000943), SEVERE BEHAVIORAL PROBLEMS AT AGE 3-4(HP:0002456), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), MILD HEPATOMEGALY(HP:0001398), DIARRHEA(HP:0002014), FREQUENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0001740), MILD SPLENOMEGALY(HP:0001745), SYNOPHRYS(HP:0000664), GROWTH ABNORMALITY(HP:0001507), SLEEP DISTURBANCES(HP:0002360), OVOID THORACOLUMBAR VERTEBRAE(HP:0003309), THICKENED RIBS(HP:0000900), COARSE HAIR(HP:0002208), HIRSUTISM(HP:0001007), HYPERACTIVITY(HP:0000752), ASYMMETRIC SEPTAL HYPERTROPHY(HP:0001670), MILD JOINT STIFFNESS(HP:0003033), DENSE CALVARIA(HP:0000250), HEARING LOSS(HP:0000365), HEPARAN SULFATE EXCRETION IN URINE(HP:0002159)]
6452	SH3BP2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), OLIGODONTIA(HP:0000677), MALPOSITION OF TEETH(HP:0001569), ONSET 3 MONTHS OF AGE UP TO 5 YEARS(HP:0003617), CONSTRICTED VISUAL FIELDS(HP:0001133), HYDROPS(HP:0000990), IMPAIRED VISION(HP:0000505), ROUND FACE(HP:0000311), PROPTOSIS(HP:0000520), EDEMA(HP:0000969), OPTIC NEUROPATHY(HP:0001138)]
6455	SH3GL1	[FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
6469	SHH	[MALAR HYPOPLASIA(HP:0000272), REDUCED PENETRANCE(HP:0003830), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), VARIABLE EXPRESSIVITY(HP:0003828), HYPOPITUITARISM(HP:0000830), HOLOPROSENCEPHALY(HP:0001360), SINGLE MEDIAN MAXILLARY CENTRAL INCISOR(HP:0006315), COLOBOMA OF IRIS, CHOROID AND RETINA(HP:0007748), CYCLOPIA(HP:0009914), MICROPHTHALMOS(HP:0000568), PROMINENT MEDIAN PALATAL RAPHE(HP:0002708), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), DISCOLORED LATERAL INCISORS(HP:0006290), MENTAL RETARDATION, MILD(HP:0001256), ANOPHTHALMIA(HP:0000528), MILD TO MODERATE LEARNING DIFFICULTIES(HP:0007234), CLEFT LIP(HP:0000204), ABNORMALITY OF THE CHROMOSOMES(HP:0002916), DECREASED BODY HEIGHT(HP:0004322), ANOSMIA(HP:0000458), CHOANAL ATRESIA(HP:0000453), MIDNASAL STENOSIS(HP:0010644), ABNORMALITY OF VISION(HP:0000504), ISOLATED GROWTH HORMONE DEFICIENCY(HP:0000861), MICROCEPHALY(HP:0000252), HYPOTELORISM(HP:0000601), HYDRONEPHROSIS(HP:0000126)]
6473	SHOX	[SHORTENING OF THE TIBIA(HP:0006436), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RADIAL BOWING(HP:0002986), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HIGH-ARCHED PALATE(HP:0000156), LIMITED ELBOW MOVEMENT(HP:0002996), SHORT ULNA(HP:0002998), DORSAL SUBLUXATION OF ULNA(HP:0006459), SHORT TIBIA(HP:0002993), ABNORMALITY OF THE HAND(HP:0001155), INCREASED CARRYING ANGLE(HP:0003102), RUDIMENTARY FIBULA(HP:0006381), MADELUNG DEFORMITY(HP:0003067), LUMBAR HYPERLORDOSIS(HP:0002938), MICROGNATHIA(HP:0000210), SHORT STATURE, DISPROPORTIONATE MESOMELIC(HP:0008845), SCOLIOSIS(HP:0002650), SHORT FEMORAL NECK(HP:0003032), MESOMELIA(HP:0003027)]
6476	SI	[KIDNEY STONES(HP:0000787), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DIARRHEA(HP:0002014), MALABSORPTION(HP:0002024)]
6492	SIM1	[METABOLISM ABNORMALITY(HP:0001939), OBESITY(HP:0001513)]
6496	SIX3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOPITUITARISM(HP:0000830), HOLOPROSENCEPHALY(HP:0001360), MENTAL RETARDATION(HP:0001249), SUBMUCOUS CLEFT PALATE(HP:0000176), CLEFT LIP(HP:0000204), SINGLE CENTRAL INCISOR(HP:0001573), BIFID UVULA(HP:0000193), CHRONIC CONSTIPATION(HP:0002241), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), ABSENT NASAL SEPTAL CARTILAGE(HP:0005273), HYPOTELORISM(HP:0000601)]
6505	SLC1A1	[MENTAL RETARDATION(HP:0001249), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FASTING HYPOGLYCEMIA(HP:0003162)]
6513	SLC2A1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MICROCEPHALY, ACQUIRED(HP:0000259), HYPERREFLEXIA(HP:0001347), LETHARGY(HP:0001254), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), DYSARTHRIA(HP:0001260), EEG ABNORMALITIES(HP:0002353), HEMIPARESIS(HP:0001269), CHOREOATHETOSIS(HP:0001266), SLEEP DISTURBANCES(HP:0002360), HYPERTONIA(HP:0001276), ONSET IN INFANCY(HP:0003576), DYSTONIA, PAROXYSMAL(HP:0002268), ABNORMAL EYE MOVEMENTS, PAROXYSMAL(HP:0007704), PARALYSIS(HP:0003470), CONFUSION(HP:0001289), SPEECH AND LANGUAGE DIFFICULTIES(HP:0002399), BABINSKI SIGN(HP:0003487), MYOCLONUS(HP:0001336), METABOLISM ABNORMALITY(HP:0001939), LEARNING DISABILITY(HP:0001328), DECELERATION OF HEAD GROWTH(HP:0000241)]
6514	SLC2A2	[OSTEOMALACIA(HP:0002749), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), ABDOMINAL DISTENTION(HP:0003270), HYPOURICEMIA(HP:0003537), MALABSORPTION(HP:0002024), POOR APPETITE(HP:0004396), IMPAIRED GALACTOSE METABOLISM(HP:0004915), POOR WEIGHT GAIN(HP:0001535), DECREASED SUBCUTANEOUS FAT(HP:0001002), RETARDED PSYCHOMOTOR DEVELOPMENT(HP:0001292), GLYCOSURIA(HP:0003076), HYPOPHOSPHATEMIA(HP:0002148), HYPOKALEMIA(HP:0002900), NEPHROPATHY(HP:0000112), RENAL TUBULAR DYSFUNCTION(HP:0000124), GENERALIZED AMINOACIDURIA(HP:0002909), HYPERPHOSPHATURIA(HP:0003109)]
6519	SLC3A1	[CYSTINURIA(HP:0003131), KIDNEY STONES(HP:0000787), NEUROLOGICAL ABNORMALITY(HP:0000707), AMINOACIDURIA(HP:0002903)]
6521	SLC4A1	[INCREASED RED CELL OSMOTIC FRAGILITY(HP:0005502), OSTEOMALACIA(HP:0002749), JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PERIODIC PARALYSIS(HP:0003768), STOMATOCYTOSIS(HP:0004446), ABNORMALITY OF MUSCULATURE(HP:0003011), SPHEROCYTOSIS(HP:0004444), ELLIPTOCYTOSIS(HP:0004445), HEMOLYTIC ANEMIA(HP:0001878), RENAL TUBULAR ACIDOSIS(HP:0001947), SPLENOMEGALY(HP:0001744), RETICULOCYTOSIS(HP:0001923), ABETALIPOPROTEINEMIA(HP:0008181), HYPOCALCEMIA(HP:0002901), HYPOKALEMIA(HP:0002900), GROWTH FAILURE(HP:0001517), HYPERBILIRUBINEMIA(HP:0002904), PATHOLOGIC FRACTURE(HP:0002756), NEPHROCALCINOSIS(HP:0000121)]
6523	SLC5A1	[METABOLIC ACIDOSIS(HP:0001942), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMAL ORAL GLUCOSE TOLERANCE(HP:0004924), DIARRHEA(HP:0002014), HYPERTONIC DEHYDRATION(HP:0001986), FAILURE TO THRIVE(HP:0001508), MALABSORPTION(HP:0002024), GLYCOSURIA(HP:0003076)]
6524	SLC5A2	[POLYURIA(HP:0000103), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), POLYPHAGIA(HP:0002591), ENURESIS(HP:0000805), POLYDIPSIA(HP:0001959), GLYCOSURIA(HP:0003076)]
6528	SLC5A5	[CONGENITAL HYPOTHYROIDISM(HP:0000851), DRY SKIN(HP:0000958), MENTAL RETARDATION(HP:0001249), GOITER(HP:0000853), LOW T4(HP:0003222), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), UMBILICAL HERNIA(HP:0001537), CONSTIPATION(HP:0002019), GROWTH RETARDATION(HP:0001510), MACROGLOSSIA(HP:0000158), NEOPLASIA(HP:0002664)]
6535	SLC6A8	[MALAR HYPOPLASIA(HP:0000272), POOR HAND-EYE COORDINATION(HP:0007057), HYPERMETROPIA(HP:0000540), JOINT HYPERMOBILITY(HP:0001382), MANDIBULAR PROGNATHIA(HP:0000303), STEREOTYPICAL MOTOR BEHAVIORS(HP:0008758), CONGENITAL MEGACOLON(HP:0002251), LONG, THIN FACE(HP:0000334), LOW WEIGHT(HP:0001823), EXOTROPIA(HP:0000577), INCREASED BODY HEIGHT(HP:0000098), NEONATAL HYPOTONIA(HP:0001319), PES CAVUS(HP:0001761), TYPE D BRACHYDACTYLY(HP:0005627), CONSTIPATION(HP:0002019), ILEUS(HP:0002595), FEEDING DIFFICULTIES(HP:0002022), LANGUAGE DELAY(HP:0002336), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), VOMITING(HP:0002013), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), DECREASED BODY HEIGHT(HP:0004322), X-LINKED RECESSIVE INHERITANCE(HP:0001419), UNFOLDED SUPERIOR HELICES(HP:0008583), METABOLISM ABNORMALITY(HP:0001939), AGGRESSIVE BEHAVIOR(HP:0000718), ATTENTION DEFICIT HYPERACTIVITY DISORDER(HP:0007018), MICROCEPHALY(HP:0000252), ONSET IN FIRST MONTHS OF LIFE(HP:0003594), IMPAIRED SOCIAL INTERACTIONS(HP:0000735), SPEECH AND LANGUAGE DELAY, SEVERE(HP:0007172)]
6557	SLC12A1	[HYPERPROSTAGLANDINURIA(HP:0003527), OCCASIONAL HYPOMAGNESEMIA(HP:0003284), PARESTHESIA(HP:0003401), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RENAL POTASSIUM WASTING(HP:0000128), HYPOSTHENURIA(HP:0003158), MUSCLE CRAMPS(HP:0003394), CONSTIPATION(HP:0002019), OSTEOPENIA(HP:0000938), CHONDROCALCINOSIS(HP:0000934), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), GENERALIZED MUSCLE WEAKNESS(HP:0003324), INCREASED SERUM PROSTAGLANDIN E(HP:0003566), DIARRHEA(HP:0002014), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), LOW BIRTH WEIGHT(HP:0001518), PREMATURE BIRTH(HP:0001622), INCREASED URINARY CHLORIDE(HP:0002914), HETEROGENEOUS(HP:0001425), DECREASED BODY HEIGHT(HP:0004322), INCREASED URINARY POTASSIUM(HP:0003081), TETANY(HP:0001281), HYPOKALEMIC METABOLIC ALKALOSIS(HP:0001960), POLYURIA(HP:0000103), INCREASED PLASMA RENIN(HP:0000848), INCREASED PLASMA ALDOSTERONE(HP:0000859), RENAL JUXTAGLOMERULAR CELL HYPERTROPHY/HYPERPLASIA(HP:0000111), DEHYDRATION(HP:0001944), FEVER(HP:0001945), HYPERCALCIURIA(HP:0002150), HYPOCHLOREMIA(HP:0003113), POLYHYDRAMNIOS(HP:0001561), FETAL POLYURIA(HP:0001563), HYPOKALEMIA(HP:0002900), LOW-TO-NORMAL BLOOD PRESSURE(HP:0002632), HYPERACTIVE RENIN-ANGIOTENSIN SYSTEM(HP:0000841), NEPHROCALCINOSIS(HP:0000121)]
6559	SLC12A3	[HYPOMAGNESEMIA(HP:0002917), PARESTHESIA(HP:0003401), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RENAL POTASSIUM WASTING(HP:0000128), MUSCLE CRAMPS(HP:0003394), RENAL MAGNESIUM WASTING(HP:0005567), POLYDIPSIA(HP:0001959), CHONDROCALCINOSIS(HP:0000934), TETANY(HP:0001281), POLYURIA(HP:0000103), INCREASED PLASMA RENIN(HP:0000848), SEIZURES(HP:0001250), GENERALIZED MUSCLE WEAKNESS(HP:0003324), HYPOKALEMIC ALKALOSIS(HP:0001949), HYPOKALEMIA(HP:0002900), ONSET IN CHILDHOOD(HP:0003578)]
6566	SLC16A1	[MUSCLE CRAMPS WITH EXERCISE(HP:0003710), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EXERCISE-INDUCED MUSCLE FATIGUE(HP:0009020), HYPERINSULINEMIC HYPOGLYCEMIA(HP:0000825), HYPOGLYCEMIA(HP:0001943), LOSS OF CONSCIOUSNESS(HP:0007185), ISLET CELL HYPERPLASIA, DIFFUSE(HP:0001736), SEIZURES, HYPOGLYCEMIC(HP:0002173), EXERCISE-INDUCED MUSCLE STIFFNESS(HP:0008967), HYPOGLYCEMIC COMA(HP:0001325), INCREASED SERUM CREATINE KINASE(HP:0002147)]
6567	SLC16A2	[PES PLANUS(HP:0001763), DROOLING(HP:0002307), DISCONJUGATE EYE MOVEMENTS(HP:0000549), JOINT CONTRACTURES(HP:0001372), LARGE EARS(HP:0000400), GENERALIZED AMYOTROPHY(HP:0003700), PROMINENT ANTIHELIX(HP:0000395), FEEDING DIFFICULTIES(HP:0002022), SIMPLE EARS(HP:0000390), HYPERREFLEXIA(HP:0001347), ATAXIA(HP:0001251), DYSARTHRIA(HP:0001260), BITEMPORAL NARROWING(HP:0000314), SPASTIC PARAPLEGIA(HP:0001258), ONSET AT BIRTH(HP:0003577), SPASTIC TETRAPLEGIA(HP:0002510), IRRITABILITY(HP:0000737), PECTUS EXCAVATUM(HP:0000767), NYSTAGMUS(HP:0000639), X-LINKED DOMINANT INHERITANCE(HP:0001423), BABINSKI SIGN(HP:0003487), HALLUX VALGUS(HP:0001822), INABILITY TO WALK(HP:0002540), INVOLUNTARY WRITHING MOVEMENTS(HP:0007316), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), SCOLIOSIS(HP:0002650), CLONUS(HP:0002169), MICROCEPHALY(HP:0000252), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), NEONATAL HYPOTONIA(HP:0001319)]
6584	SLC22A5	[CARDIOMEGALY(HP:0001640), WEAKNESS(HP:0002309), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ENCEPHALOPATHY(HP:0001298), CARDIOMYOPATHY(HP:0001638), ENDOCARDIAL FIBROELASTOSIS(HP:0001706), CONFUSION(HP:0001289), IMPAIRED GLUCONEOGENESIS(HP:0005959), HEPATOMEGALY(HP:0002240), MYOPATHY(HP:0003198), LETHARGY(HP:0001254), HYPOGLYCEMIA(HP:0001943), MUSCULAR HYPOTONIA(HP:0001252), HEPATIC STEATOSIS(HP:0001397), SOMNOLENCE(HP:0001262), COMA(HP:0001259), VOMITING(HP:0002013), HYPERAMMONEMIA(HP:0001987), MUSCLE WEAKNESS(HP:0001324)]
6591	SNAI2	[HETEROCHROMIA IRIDIS(HP:0001100), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE ABDOMEN(HP:0001438), NEOPLASIA(HP:0002664), ABSENT PIGMENTATION OF VENTRAL CHEST, ABDOMEN AND LIMBS(HP:0007542), ABNORMALITY OF THE EARS(HP:0000598), WHITE FORELOCK(HP:0002211), PARTIAL ALBINISM(HP:0007443)]
6598	SMARCB1	[METABOLISM ABNORMALITY(HP:0001939), NEOPLASIA(HP:0002664)]
6600	SMCR	[MALAR HYPOPLASIA(HP:0000272), BROAD FACE(HP:0000283), HOARSE VOICE(HP:0001609), KIDNEY MALFORMATION(HP:0000792), CARDIAC MALFORMATION(HP:0002564), POLYNEUROPATHY(HP:0001271), BROAD NASAL BRIDGE(HP:0000431), SLEEP DISTURBANCES(HP:0002360), BRACHYDACTYLY(HP:0001156), SPEECH DELAY(HP:0002117), HYPERACTIVITY(HP:0000752), ISOLATED CASES(HP:0001420), SCOLIOSIS(HP:0002650), BRACHYCEPHALY(HP:0000248), HEARING LOSS(HP:0000365), WEAK OR ABSENT DEEP TENDON REFLEXES(HP:0001316)]
6606	SMN1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LIMB FASCICULATIONS(HP:0007289), PROXIMAL MUSCLE WEAKNESS(HP:0003701), SPINAL MUSCULAR ATROPHY(HP:0007269), EMG SHOWS NEUROGENIC ABNORMALITIES(HP:0002178), SLOW PROGRESSION(HP:0003677), ONSET BEFORE AGE 2 YEARS(HP:0003667), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), RESPIRATORY INSUFFICIENCY(HP:0002093), TONGUE FASCICULATIONS(HP:0001308), HAND TREMOR(HP:0002378), AREFLEXIA IN LOWER LIMBS(HP:0002522), LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS(HP:0003483), DEGENERATION OF ANTERIOR HORN CELLS(HP:0002398), PROXIMAL AMYOTROPHY(HP:0007126), TONGUE FASCICULATION/FIBRILLATION(HP:0003727), DECREASED FETAL MOVEMENT(HP:0001558)]
6609	SMPD1	[ABNORMALITY OF THE MACULA(HP:0001103), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DIFFUSE RETICULAR OR FINELY NODULAR INFILTRATIONS(HP:0002207), VARIABLE PHENOTYPE(HP:0003813), XANTHELASMA(HP:0001114), LYMPHADENOPATHY(HP:0002716), ONSET IN INFANCY OR CHILDHOOD(HP:0003583), HEPATOMEGALY(HP:0002240), LOW WEIGHT(HP:0001823), PROTUBERANT ABDOMEN(HP:0001538), DECREASED HDL CHOLESTEROL(HP:0003233), MUSCLE WEAKNESS(HP:0001324), ATHETOSIS(HP:0002305), CONSTIPATION(HP:0002019), OSTEOPOROSIS(HP:0000939), FEEDING DIFFICULTIES(HP:0002022), RIGIDITY(HP:0002063), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), SPASTICITY(HP:0001257), VOMITING(HP:0002013), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), HYPOREFLEXIA(HP:0001265), DYSPNEA(HP:0002094), 'SEA-BLUE' HISTIOCYTES(HP:0001982), DECREASED BODY HEIGHT(HP:0004322), LARGE VACUOLATED FOAM CELLS ('NP CELLS') ON BONE MARROW BIOPSY(HP:0001979), INCREASED LDL CHOLESTEROL(HP:0008343), NEONATAL JAUNDICE(HP:0000986), ELECTRON MICROSCOPY OF FOAM CELLS SHOWS LAMELLAR INCLUSIONS(HP:0003609), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), MICROCYTIC ANEMIA(HP:0001935), HYPERTRIGLYCERIDEMIA(HP:0002155)]
6611	SMS	[TALIPES EQUINOVARUS(HP:0001762), KYPHOSCOLIOSIS(HP:0002751), LONG, THIN HANDS(HP:0001502), OSTEOPOROSIS(HP:0000939), CRYPTORCHIDISM(HP:0000028), DECREASED MUSCLE MASS(HP:0003199), LONG, HYPEREXTENSIBLE FINGERS(HP:0006010), MUSCULAR HYPOTONIA(HP:0001252), NASAL SPEECH(HP:0001611), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), HIGH, NARROW PALATE(HP:0002705), LONG HALLUCES(HP:0001867), PROMINENT LOWER LIP(HP:0000179), BIFID UVULA(HP:0000193), BROAD-BASED GAIT(HP:0002136), FACIAL ASYMMETRY(HP:0000324), PECTUS EXCAVATUM(HP:0000767), X-LINKED RECESSIVE INHERITANCE(HP:0001419), INCREASED BODY HEIGHT(HP:0000098), RECURRENT FRACTURES(HP:0002757)]
6620	SNCB	[DELUSIONS(HP:0000746), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PARKINSONISM(HP:0001300), DEMENTIA, PROGRESSIVE(HP:0002274), FLUCTUATIONS IN CONSCIOUSNESS(HP:0007159), VISUAL HALLUCINATIONS(HP:0002367)]
6622	SNCA	[HYPOTENSION(HP:0002615), DELUSIONS(HP:0000746), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PARKINSONISM(HP:0001300), AUTONOMIC DYSFUNCTION(HP:0002387), WEIGHT LOSS(HP:0001824), RAPIDLY PROGRESSIVE(HP:0003678), EARLY ONSET(HP:0003593), DEMENTIA, PROGRESSIVE(HP:0002274), VISUAL HALLUCINATIONS(HP:0002367), FLUCTUATIONS IN CONSCIOUSNESS(HP:0007159)]
6638	SNRPN	[MYOPIA(HP:0000545), GROWTH HORMONE DEFICIENCY(HP:0000824), EARLY DENTAL CARIES(HP:0006306), CRYPTORCHIDISM(HP:0000028), DOLICHOCEPHALY(HP:0000268), HYPERNASAL SPEECH(HP:0001614), FRONTAL HAIR UPSWEEP(HP:0002236), GENERALIZED MUSCLE WEAKNESS(HP:0003324), BITEMPORAL NARROWING(HP:0000314), SCROTAL HYPOPLASIA(HP:0000046), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), MICROPENIS(HP:0000054), HYPERMETROPIA(HP:0000540), HYPOPLASTIC CLITORIS(HP:0000060), KYPHOSIS(HP:0002808), HYPOPLASTIC LABIA MINORA(HP:0000064), FALLS(HP:0002527), OLIGOMENORRHEA(HP:0000876), HYPOVENTILATION(HP:0002791), UPSLANTING PALPEBRAL FISSURES(HP:0000582), LEARNING DISABILITY(HP:0001328), HYPERINSULINEMIA(HP:0000842), POOR SUCK(HP:0002033), AMENORRHEA(HP:0000141), SMALL FEET(HP:0001764), WEAKNESS(HP:0002309), NARROW HAND(HP:0004283), OSTEOPOROSIS(HP:0000939), OSTEOPENIA(HP:0000938), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), FAILURE TO THRIVE IN INFANCY(HP:0001531), SLEEP DISTURBANCES(HP:0002360), CLINODACTYLY OF HANDS(HP:0001157), FEEDING PROBLEMS IN INFANCY(HP:0008872), SYNDACTYLY(HP:0001159), SMALL HANDS(HP:0001165), TRUNCAL OBESITY(HP:0001956), THIN UPPER LIP(HP:0000219), PHOTOSENSITIVITY(HP:0000992), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), ISOLATED CASES(HP:0001420), FAIR SKIN(HP:0000984), POOR FINE MOTOR COORDINATION(HP:0007010), SCOLIOSIS(HP:0002650), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486)]
6647	SOD1	[MUSCLE WEAKNESS AND ATROPHY(HP:0009012), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FASCICULATIONS(HP:0002380), MUSCLE CRAMPS(HP:0003394), METABOLISM ABNORMALITY(HP:0001939), PATHOLOGIC CHANGES IN ANTERIOR HORN CELLS AND LATERAL CORTICOSPINAL TRACTS(HP:0007254), DYSARTHRIA(HP:0001260), SPASTICITY(HP:0001257), PSEUDOBULBAR PARALYSIS(HP:0007024)]
6654	SOS1	[METACARPOPHALANGEAL JOINT HYPEREXTENSIBILITY(HP:0006099), PULMONIC STENOSIS(HP:0001642), KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MITRAL VALVE PROLAPSE(HP:0001634), HEARING LOSS, SENSORINEURAL(HP:0000407), EPICANTHUS(HP:0000286), PATENT FORAMEN OVALE(HP:0001655), CRYPTORCHIDISM(HP:0000028), GINGIVAL FIBROMATOSIS(HP:0000169), SLOW PROGRESSION(HP:0003677), DEVELOPMENTAL RETARDATION(HP:0001263), HYPERTELORISM(HP:0000316), VENTRICULAR SEPTAL DEFECT(HP:0001629), BROAD NASAL BRIDGE(HP:0000431), ATRIAL SEPTAL DEFECT(HP:0001631), CUBITUS VALGUS(HP:0002967), MACROSTOMIA(HP:0000181), MANDIBULAR PROGNATHIA(HP:0000303), ABNORMAL OR EXCESS NEVI(HP:0003764), SHORT NECK(HP:0000470), WIDOW'S PEAK(HP:0000349), DECREASED BODY HEIGHT(HP:0004322), HEMANGIOMAS(HP:0001028), WEBBED NECK(HP:0000465), MULTIPLE LENTIGINES(HP:0001003), PECTUS EXCAVATUM(HP:0000767), LYMPHEDEMA(HP:0001004), PTOSIS(HP:0000508), EXOTROPIA(HP:0000577), LOW-SET EARS(HP:0000369), POSTERIORLY ROTATED EARS(HP:0000358), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), LOW NORMAL INTELLIGENCE(HP:0007180), WIDE INTERMAMILLARY DISTANCE(HP:0006610)]
6657	SOX2	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOTHALAMIC HAMARTOMA(HP:0002444), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), BUTTERFLY VERTEBRAE(HP:0003316), VERTEBRAL FUSION(HP:0002948), HYPOSPADIAS(HP:0000047), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), VENTRICULAR SEPTAL DEFECT(HP:0001629), MICROPENIS(HP:0000054), SPASTIC TETRAPLEGIA(HP:0002510), OPTIC NERVE HYPOPLASIA(HP:0000609), LEARNING DISABILITY(HP:0001328), COLOBOMA(HP:0000589), ANTERIOR PITUITARY HYPOPLASIA(HP:0008238), ESOPHAGEAL ATRESIA(HP:0002032), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079), ANOPHTHALMIA, CLINICAL(HP:0001485), MUSCULAR HYPOTONIA(HP:0001252), FRONTAL BOSSING(HP:0002007), MISSING RIBS(HP:0000921), VERTEBRAL HYPOPLASIA(HP:0008417), SPASTIC DIPLEGIA(HP:0001264), GROWTH FAILURE(HP:0001517), RIB FUSION(HP:0000902), AGENESIS OF CORPUS CALLOSUM(HP:0001274), DECREASED BODY HEIGHT(HP:0004322), HEMIVERTEBRAE(HP:0002937), SUPERNUMERARY RIBS(HP:0005815), MICROCEPHALY(HP:0000252)]
6658	SOX3	[PITUITARY DWARFISM(HP:0000839), PANHYPOPITUITARISM(HP:0000871), X-LINKED INHERITANCE(HP:0001417)]
6662	SOX9	[KYPHOSCOLIOSIS(HP:0002751), SHORT FIBULAE(HP:0002985), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MACROCEPHALY(HP:0000256), WIDE ANTERIOR FONTANEL(HP:0000260), HYPERTELORISM(HP:0000316), THIN RIBS(HP:0000883), HYPOPLASTIC SCAPULAE(HP:0000882), ANTERIOR BOWING OF TIBIA(HP:0006390), HIGH FOREHEAD(HP:0000348), HYPOPLASTIC, POORLY OSSIFIED CERVICAL VERTEBRAE(HP:0008477), ABSENT STERNAL MINERALIZATION(HP:0006654), TRACHEOBRONCHOMALACIA(HP:0002786), 11 PAIRS OF RIBS(HP:0000878), LOW-SET EARS(HP:0000369), BLEPHAROPHIMOSIS(HP:0000581), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), SHORT LIMB DWARFISM(HP:0003505), POLYHYDRAMNIOS(HP:0001561), HYDRONEPHROSIS(HP:0000126), HEARING LOSS(HP:0000365), TALIPES EQUINOVARUS(HP:0001762), ABNORMALITY OF THE SKIN(HP:0000951), RESPIRATORY DISTRESS(HP:0002098), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), APNEA(HP:0002104), DISLOCATED HIPS(HP:0002827), CARDIAC MALFORMATION(HP:0002564), FLATTENED NASAL BRIDGE(HP:0000425), SHORT PHALANGES BOTH HANDS AND FEET(HP:0005035), HYPOPLASTIC CERVICAL VERTEBRAE(HP:0008434), SMALL ILIAC WINGS(HP:0003169), FAILURE TO THRIVE IN SURVIVORS(HP:0008878), MICROGNATHIA(HP:0000210), HYDROCEPHALUS(HP:0000238)]
6663	SOX10	[HETEROCHROMIA IRIDIS(HP:0001100), PES CAVUS(HP:0001761), SURAL NERVE BIOPSY SHOWS EXCESSIVE FOCAL FOLDING OF MYELIN SHEATHS(HP:0007290), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SPASTIC PARAPARESIS(HP:0002313), HEARING LOSS, SENSORINEURAL(HP:0000407), DECREASED MYENTERIC AND SUBMUCOSAL GANGLIA IN THE BOWEL(HP:0002596), DISTAL MUSCLE WEAKNESS(HP:0002460), DISTAL AMYOTROPHY(HP:0003693), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), WHITE EYEBROWS(HP:0002226), WHITE EYELASHES(HP:0002227), HYPOREFLEXIA(HP:0001265), WHITE FORELOCK(HP:0002211), DYSMYELINATING LEUKODYSTROPHY(HP:0006978), SPASTIC TETRAPLEGIA(HP:0002510), AUTONOMIC DYSREGULATION(HP:0002271), DEMYELINATING PERIPHERAL NEUROPATHY(HP:0007108), DYSMYELINATION(HP:0003469), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), HYPOPIGMENTED SKIN PATCHES(HP:0001053), CONGENITAL MEGACOLON(HP:0002251), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL SENSORY IMPAIRMENT(HP:0002936), ABSENT BRAINSTEM AUDITORY RESPONSES(HP:0004463), NYSTAGMUS(HP:0000639), AREFLEXIA(HP:0001284), SURAL NERVE BIOPSY SHOWS HYPOMYELINATION/DEMYELINATION(HP:0007160), NEONATAL HYPOTONIA(HP:0001319)]
6683	SPAST	[SPASTIC GAIT(HP:0002064), HIGHLY VARIABLE SEVERITY(HP:0003825), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DEGENERATION OF THE LATERAL CORTICOSPINAL TRACTS(HP:0002314), URINARY URGENCY(HP:0000012), LOW BACK PAIN(HP:0003419), URINARY INCONTINENCE(HP:0000020), LOWER LIMB SPASTICITY(HP:0002061), HYPERREFLEXIA(HP:0001347), PROGRESSIVE DISORDER(HP:0003676), MENTAL RETARDATION(HP:0001249), SPHINCTER DISTURBANCES (BLADDER)(HP:0002839), MEMORY IMPAIRMENT(HP:0002354), APATHY(HP:0000741), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), AGITATION(HP:0000713), DECREASED VIBRATORY SENSE IN THE LOWER LIMBS(HP:0002166), COGNITIVE DECLINE(HP:0002303), DEPRESSION(HP:0000716), AGGRESSIVE BEHAVIOR(HP:0000718), GENETIC ANTICIPATION(HP:0003743), DISINHIBITION(HP:0000734), DEMENTIA(HP:0000726), INSIDIOUS ONSET(HP:0003587)]
6687	SPG7	[SPASTIC GAIT(HP:0002064), PES CAVUS(HP:0001761), COGNITIVE DEFECTS(HP:0002441), GAIT ATAXIA(HP:0002066), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEGENERATION OF THE LATERAL CORTICOSPINAL TRACTS(HP:0002314), URINARY URGENCY(HP:0000012), SPHINCTER DISTURBANCE(HP:0000018), URINARY INCONTINENCE(HP:0000020), HYPERREFLEXIA(HP:0001347), LOWER LIMB SPASTICITY(HP:0002061), OPTIC ATROPHY(HP:0000648), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), SPASTIC PARAPLEGIA(HP:0001258), SPHINCTER DISTURBANCES (BLADDER)(HP:0002839), MEMORY IMPAIRMENT(HP:0002354), CEREBELLAR ATROPHY(HP:0001272), HETEROGENEOUS(HP:0001425), MEAN AGE OF ONSET 18 YEARS(HP:0003628), NYSTAGMUS(HP:0000639), CEREBRAL CORTICAL ATROPHY(HP:0002120), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), DECREASED VIBRATORY SENSE IN THE LOWER LIMBS(HP:0002166), SCOLIOSIS(HP:0002650)]
6690	SPINK1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INSULIN-DEPENDENT BUT KETOSIS-RESISTANT DIABETES(HP:0008205), ABDOMINAL PAIN(HP:0002027), PANCREATIC INSUFFICIENCY(HP:0002581), AGE OF ONSET(HP:0003674), INCREASED RISK OF PANCREATIC CANCER(HP:0004511), FEVER(HP:0001945), CHRONIC PANCREATITIS(HP:0006280), PANCREATIC CALCIFICATION(HP:0005213), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), RESPIRATORY ABNORMALITY(HP:0002086), PANCREATIC PSEUDOCYSTS(HP:0005206), STEATORRHEA(HP:0002570)]
6697	SPR	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PSYCHOMOTOR RETARDATION(HP:0001255), TREMOR(HP:0001337), METABOLISM ABNORMALITY(HP:0001939), AGGRESSIVE BEHAVIOR(HP:0000718), DYSTONIA(HP:0001332), SPASTICITY(HP:0001257), MICROCEPHALY(HP:0000252), GROWTH RETARDATION(HP:0001510), CHOREOATHETOSIS(HP:0001266)]
6708	SPTA1	[JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MICROSPHEROCYTOSIS(HP:0004835), ELLIPTOCYTOSIS(HP:0004445), HEREDITARY PYROPOIKILOCYTOSIS(HP:0004805), PYROPOIKILOCYTOSIS(HP:0004839), POIKILOCYTIC HEMOLYTIC ANEMIA(HP:0004827), SEVERE HEMOLYTIC ANEMIA(HP:0004868), HYPERBILIRUBINEMIA(HP:0002904)]
6710	SPTB	[JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SPHEROCYTOSIS(HP:0004444), PYROPOIKILOCYTOSIS(HP:0004839), HEMOLYTIC ANEMIA WITH ELLIPTOCYTOSIS(HP:0004837), HYPERBILIRUBINEMIA(HP:0002904)]
6712	SPTBN2	[GAIT ATAXIA(HP:0002066), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LIMB ATAXIA(HP:0002070), PYRAMIDAL TRACT DYSFUNCTION(HP:0007275), HYPERREFLEXIA(HP:0001347), CEREBELLAR ATAXIA(HP:0001253), SLOW PROGRESSION(HP:0003677), DYSARTHRIA(HP:0001260), FACIAL MYOKYMIA, MILD(HP:0004651), INTENTION TREMOR(HP:0002080), IMPAIRED VIBRATORY SENSE(HP:0002495), CEREBELLAR ATROPHY(HP:0001272), ABNORMALITY OF OCULAR SMOOTH PURSUIT(HP:0000617), JUVENILE ONSET(HP:0003621), VARIABLE AGE AT ONSET(HP:0003618), NYSTAGMUS(HP:0000639), GENETIC ANTICIPATION(HP:0003743), ONSET IN ADOLESCENCE(HP:0003590), LIMB INCOORDINATION(HP:0002276)]
6716	SRD5A2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ENDOCRINE ABNORMALITY(HP:0000818), HAIR ABNORMALITY(HP:0001595), VARIABLE PHENOTYPE(HP:0003813), ABNORMALITY OF THE VOICE(HP:0001608), AMBIGUOUS GENITALIA, MALE(HP:0000033), METABOLISM ABNORMALITY(HP:0001939), PERINEAL HYPOSPADIAS(HP:0000051), BIFID SCROTUM(HP:0000048), MICROPENIS(HP:0000054)]
6718	AKR1D1	[JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), ONSET IN NEONATAL PERIOD(HP:0003623), HEPATOMEGALY(HP:0002240), INTRAHEPATIC CHOLESTASIS(HP:0001406), HEPATIC FAILURE(HP:0001399), DIARRHEA(HP:0002014), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), COAGULOPATHY(HP:0001925), HYPERBILIRUBINEMIA(HP:0002904), STEATORRHEA(HP:0002570)]
6736	SRY	[HYPOPLASTIC UTERUS(HP:0000013), GONADOBLASTOMA(HP:0000150), PRIMARY AMENORRHEA(HP:0000786), BREAST HYPOPLASIA(HP:0003187), XY FEMALE GONADAL DYSGENESIS(HP:0008723), Y-LINKED INHERITANCE(HP:0001450)]
6755	SSTR5	[HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SOMATIC MUTATION(HP:0001428), COARSE FACIAL FEATURES(HP:0000280), CARDIOMYOPATHY(HP:0001638), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), METABOLISM ABNORMALITY(HP:0001939), MENSTRUAL IRREGULARITIES(HP:0000858), NEUROLOGICAL ABNORMALITY(HP:0000707), GROWTH ABNORMALITY(HP:0001507), ABNORMALITY OF THE BREASTS(HP:0000769), PROLACTIN-SECRETING PITUITARY ADENOMA(HP:0006767), ACROMEGALY(HP:0000845)]
6768	ST14	[SPARSE HAIR(HP:0008070), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PHOTOPHOBIA(HP:0000613), ICHTHYOSIS(HP:0000955), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), ABNORMALITY OF THE NAILS(HP:0001597), CONGENITAL ICHTHYOSIS(HP:0007484), HYPOTRICHOSIS(HP:0001006), ICHTHYOSIS, CONGENITAL(HP:0007478), CORNEAL CLOUDING(HP:0000515), ABNORMALITY OF THE TEETH(HP:0000164), PILI TORTI(HP:0003777), SPARSE EYEBROWS(HP:0000535), LONG, CURLY DARK UPPER EYELASHES(HP:0007840), GROWTH ABNORMALITY(HP:0001507), CURLY HAIR(HP:0002212)]
6770	STAR	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOSPADIAS(HP:0000047), RENAL SALT WASTING(HP:0000127), ADRENOGENITAL SYNDROME(HP:0000840)]
6772	STAT1	[SALMONELLA OSTEOMYELITIS(HP:0005661), HEMATOLOGICAL ABNORMALITY(HP:0001871), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE ABDOMEN(HP:0001438)]
6774	STAT3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), COARSE FACIAL FEATURES(HP:0000280), HIGH-ARCHED PALATE(HP:0000156), OSTEOPENIA(HP:0000938), EOSINOPHILIA(HP:0001880), FRONTAL BOSSING(HP:0002007), BROAD NOSE(HP:0000445), OCCASIONAL CRANIOSYNOSTOSIS(HP:0005467), IMMUNOLOGICAL ABNORMALITY(HP:0002715), HYPERTELORISM(HP:0000316), ABNORMALITY OF THE TEETH(HP:0000164), JOINT HYPERMOBILITY(HP:0001382), ONSET IN INFANCY(HP:0003576), RECURRENT SINOPULMONARY INFECTIONS(HP:0005425), METABOLISM ABNORMALITY(HP:0001939), ECZEMATOID DERMATITIS(HP:0000976), SCOLIOSIS(HP:0002650), RECURRENT FRACTURES(HP:0002757)]
6785	ELOVL4	[IMPAIRED VISION(HP:0000505), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PROGRESSIVE MACULAR DYSTROPHY(HP:0007914), CENTRAL SCOTOMA(HP:0000603), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
6792	CDKL5	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MICROCEPHALY, POSTNATAL(HP:0005484), HYPERREFLEXIA(HP:0001347), OCCIPITAL PLAGIOCEPHALY(HP:0005469), ABSENT SPEECH(HP:0001617), MILD CORTICAL ATROPHY ON CT OR MRI(HP:0006823), BLOND HAIR(HP:0002214), MANDIBULAR PROGNATHIA(HP:0000303), MICROBRACHYCEPHALY(HP:0002258), HYPOPLASIA OF THE MAXILLA(HP:0000327), BLUE IRIDES(HP:0000635), NYSTAGMUS(HP:0000639), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), WIDELY SPACED TEETH(HP:0000687), CLUMSINESS(HP:0002312), CONSTIPATION(HP:0002019), MACROGLOSSIA(HP:0000158), FEEDING DIFFICULTIES(HP:0002022), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), EEG ABNORMALITIES(HP:0002353), PROGRESSIVE GAIT ATAXIA(HP:0007240), OBESITY(HP:0001513), MACROSTOMIA(HP:0000181), SLEEP-WAKE CYCLE DISTURBANCE(HP:0006979), PAROXYSMAL BURSTS OF LAUGHTER(HP:0000749), DELAYED MOTOR MILESTONES(HP:0002130), HYPOPIGMENTATION OF THE SKIN(HP:0001010), BROAD-BASED GAIT(HP:0002136), HYPERACTIVITY(HP:0000752), ISOLATED CASES(HP:0001420), SCOLIOSIS(HP:0002650), DEEP SET EYES(HP:0000490), STRABISMUS(HP:0000486)]
6794	STK11	[RECTAL PROLAPSE(HP:0002035), OVARIAN CYSTS(HP:0000138), CLUBBING(HP:0001217), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE MOUTH(HP:0000153), BREAST CANCER(HP:0003002), HAMARTOMATOUS POLYPS(HP:0004390), IRON DEFICIENCY ANEMIA(HP:0001891), INTUSSUSCEPTION(HP:0002576), HYPERPIGMENTED SPOTS ON HANDS , LEGS, AND LIPS(HP:0007491), INTESTINAL BLEEDING(HP:0002584), RESPIRATORY ABNORMALITY(HP:0002086), GYNECOMASTIA(HP:0000771), ABNORMALITY OF THE URETERS(HP:0000069), GASTROINTESTINAL CARCINOMA(HP:0002672), PRECOCIOUS PUBERTY WITH SERTOLI CELL TUMOR(HP:0008204), NASAL POLYPS(HP:0000462), ISOLATED CASES(HP:0001420), METABOLISM ABNORMALITY(HP:0001939), SKIN RASH(HP:0000988), NEOPLASIA OF THE PANCREAS(HP:0002894), BILIARY TRACT ABNORMALITY(HP:0001080)]
6795	AURKC	[ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE SKIN(HP:0000951), MACROCEPHALY(HP:0000256), ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925), ABNORMALITY OF THE PANCREAS(HP:0001732), ABNORMALITY OF THE LARYNX(HP:0001600), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), ABNORMALITY OF THE SPLEEN(HP:0001743), ABNORMALITY OF THE TEETH(HP:0000164), ABNORMALITY OF THE DIAPHRAGM(HP:0000775), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), GROWTH ABNORMALITY(HP:0001507), ABNORMALITY OF THE BREASTS(HP:0000769), ABNORMALITY OF THE EYES(HP:0000478), ABNORMALITY OF THE URETERS(HP:0000069), ABNORMALITY OF THE HAND(HP:0001155), ABNORMALITY OF THE NECK(HP:0000464), ABNORMALITY OF THE NAILS(HP:0001597), HAIR ABNORMALITY(HP:0001595), MALE INFERTILITY(HP:0003251), ABNORMALITY OF THE PELVIS(HP:0002644), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), NEUROLOGICAL ABNORMALITY(HP:0000707), BILIARY TRACT ABNORMALITY(HP:0001080), ABNORMALITY OF THE EARS(HP:0000598)]
6821	SUOX	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE SKIN(HP:0000951), INFANTILE MUSCULAR HYPOTONIA(HP:0008947), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEATH IN INFANCY(HP:0001522), DEVELOPMENTAL RETARDATION(HP:0001263), ABNORMALITY OF THE TEETH(HP:0000164), CHOREOATHETOSIS(HP:0001266), HYPERTONIA(HP:0001276), FINE HAIR(HP:0002213), SULFITE OXIDASE DEFICIENCY(HP:0003643), AGITATION(HP:0000713), GENERALIZED DYSTONIA(HP:0007325), RESTLESSNESS(HP:0000711), ECTOPIA LENTIS(HP:0001083)]
6833	ABCC8	[NONINSULIN-DEPENDENT DIABETES MELLITUS(HP:0005978), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERINSULINEMIC HYPOGLYCEMIA(HP:0000825), PROMINENT METOPIC SUTURE(HP:0005487), DOWNTURNED CORNERS OF MOUTH(HP:0002714), IMMUNOLOGICAL ABNORMALITY(HP:0002715), BETA-CELL DYSFUNCTION(HP:0006279), LONG PHILTRUM(HP:0000343), HYPSARRHYTHMIA(HP:0002521), INSULIN RESISTANCE(HP:0000855), MUSCLE WEAKNESS(HP:0001324), HYPOGLYCEMIC COMA(HP:0001325), ABNORMALITY OF THE EARS(HP:0000598), MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), DROWSINESS(HP:0002329), LARGE FOR GESTATIONAL AGE(HP:0001520), SMALL, SHORT NOSE(HP:0003192), DEVELOPMENTAL RETARDATION(HP:0001263), ISLET CELL HYPERPLASIA, DIFFUSE(HP:0001736), SPASTICITY(HP:0001257), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), KETOACIDOSIS(HP:0001993), LOW BIRTH WEIGHT(HP:0001518), HETEROGENEOUS(HP:0001425), CLINODACTYLY OF HANDS(HP:0001157), NARES, ANTEVERTED(HP:0000463), MENTAL RETARDATION DUE TO REPEATED EPISODES OF HYPOGLYCEMIA(HP:0002386), HYPERGLYCEMIA(HP:0003074), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LOSS OF CONSCIOUSNESS(HP:0007185), LIMB CONTRACTURES(HP:0003121), SEIZURES, HYPOGLYCEMIC(HP:0002173), LATE ONSET(HP:0003584)]
6834	SURF1	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), SPASTICITY(HP:0001257), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), NYSTAGMUS(HP:0000639), HYPERTRICHOSIS(HP:0000998), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), DYSTONIA(HP:0001332), INCREASED SERUM LACTATE(HP:0002151), OPHTHALMOPLEGIA(HP:0000602), DEMYELINATION(HP:0003381)]
6853	SYN1	[AGGRESSIVE BEHAVIOR(HP:0000718), LEARNING DISABILITY(HP:0001328), MACROCEPHALY(HP:0000256), X-LINKED RECESSIVE INHERITANCE(HP:0001419), EPILEPSY(HP:0001275)]
6855	SYP	[X-LINKED INHERITANCE(HP:0001417)]
6866	TAC3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ISOLATED HYPOGONADOTROPIC HYPOGONADISM(HP:0008224), PRIMARY AMENORRHEA(HP:0000786), DECREASED TESTICULAR SIZE(HP:0008734)]
6870	TACR3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ISOLATED HYPOGONADOTROPIC HYPOGONADISM(HP:0008224), PRIMARY AMENORRHEA(HP:0000786), DECREASED TESTICULAR SIZE(HP:0008734)]
6872	TAF1	[ABNORMALITY OF THE EYES(HP:0000478), MYOCLONUS(HP:0001336), TORSION DYSTONIA(HP:0001304), CHOREA(HP:0002072), PARKINSONISM(HP:0001300), X-LINKED RECESSIVE INHERITANCE(HP:0001419)]
6886	TAL1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), T-CELL LYMPHOMA/LEUKEMIA(HP:0005517)]
6890	TAP1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTEGUMENT ABNORMALITY(HP:0001574), NASAL POLYPS(HP:0000462), CHRONIC OTITIS MEDIA(HP:0000389), EMPHYSEMA(HP:0002097), METABOLISM ABNORMALITY(HP:0001939), ECTOPIA LENTIS(HP:0001083), BRONCHITIS(HP:0002837)]
6891	TAP2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTEGUMENT ABNORMALITY(HP:0001574), NASAL POLYPS(HP:0000462), CHRONIC OTITIS MEDIA(HP:0000389), EMPHYSEMA(HP:0002097), METABOLISM ABNORMALITY(HP:0001939), ECTOPIA LENTIS(HP:0001083), BRONCHITIS(HP:0002837)]
6892	TAPBP	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTEGUMENT ABNORMALITY(HP:0001574), NASAL POLYPS(HP:0000462), CHRONIC OTITIS MEDIA(HP:0000389), EMPHYSEMA(HP:0002097), METABOLISM ABNORMALITY(HP:0001939), ECTOPIA LENTIS(HP:0001083), BRONCHITIS(HP:0002837)]
6899	TBX1	[HYPOTHYROIDISM(HP:0000821), PATENT DUCTUS ARTERIOSUS(HP:0001643), RETROGNATHIA(HP:0000278), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TETRALOGY OF FALLOT(HP:0001636), INGUINAL HERNIA(HP:0000023), PERSISTANT TRUNCUS ARTERIOSUS(HP:0001660), HYPERNASAL SPEECH(HP:0001614), HYPERTELORISM(HP:0000316), VENTRICULAR SEPTAL DEFECT(HP:0001629), SUSCEPTIBILITY TO INFECTION(HP:0002964), PRIMARY PULMONARY DYSGENESIS, UNILATERAL(HP:0006549), ABNORMALITY OF THE THYMUS(HP:0000777), IMPAIRED T CELL FUNCTION(HP:0005435), PARATHYROID ABSENCE(HP:0008211), POSTERIOR EMBRYOTOXON(HP:0000627), SEBORRHEIC DERMATITIS(HP:0001051), SHORT PHILTRUM(HP:0000322), TETANY(HP:0001281), EXOTROPIA(HP:0000577), LOW-SET EARS(HP:0000369), BLEPHAROPHIMOSIS(HP:0000581), ABNORMALITY OF THE MIDDLE EAR(HP:0000370), RENAL DYSPLASIA(HP:0000110), UMBILICAL HERNIA(HP:0001537), ACNE(HP:0001061), PARATHYROID HYPOPLASIA(HP:0000860), CHOLELITHIASIS(HP:0001081), BIPOLAR AFFECTIVE DISORDER(HP:0007302), HYDRONEPHROSIS(HP:0000126), UNILATERAL RENAL AGENESIS(HP:0000122), HIGH-ARCHED PALATE(HP:0000156), IMMUNE DEFECT DUE TO A T CELL DEFICIT(HP:0005373), BULBOUS NASAL TIP(HP:0000443), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), SCLEROCORNEA(HP:0000647), AMBLYOPIA(HP:0000646), HYPOPLASTIC NASAL ALAE(HP:0000430), OBESITY(HP:0001513), MILD TO MODERATE LEARNING DIFFICULTIES(HP:0007234), ABNORMALITY OF THE HAND(HP:0001155), PIERRE-ROBIN SEQUENCE(HP:0000201), BIFID UVULA(HP:0000193), DECREASED BODY HEIGHT(HP:0004322), VELOPHARYNGEAL INSUFFICIENCY(HP:0000220), DOUBLE OUTLET RIGHT VENTRICLE(HP:0001719), MICROGNATHIA(HP:0000210), LATE-ONSET SPEECH DEVELOPMENT(HP:0007004), SCOLIOSIS(HP:0002650), ATTENTION DEFICIT HYPERACTIVITY DISORDER(HP:0007018), MICROCEPHALY(HP:0000252), RIGHT AORTIC ARCH(HP:0002627), HYPOCALCEMIA(HP:0002901)]
6901	TAZ	[GRANULOCYTOPENIA(HP:0001913), RECURRENT INFECTIONS IN INFANCY AND EARLY CHILDHOOD(HP:0005437), DILATED CARDIOMYOPATHY(HP:0001644), CONGESTIVE HEART FAILURE(HP:0001635), ULTRASTRUCTURAL ABNORMALITIES IN MITOCHONDRIA ON ELECTRON MICROSCOPY(HP:0008322), X-LINKED RECESSIVE INHERITANCE(HP:0001419), SKELETAL MYOPATHY(HP:0003756), INTERMITTENT LACTIC ACIDEMIA(HP:0004913), DEATH IN INFANCY(HP:0001522), GROWTH RETARDATION(HP:0001510)]
6905	TBCE	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILD-MODERATE VENTRICULAR DILATATION(HP:0007071), LOW TO LOW-NORMAL MAGNESIUM(HP:0008274), ANEMIA(HP:0001903), CRYPTORCHIDISM(HP:0000028), RECURRENT BACTERIAL INFECTIONS(HP:0002718), BIRTH LENGTH <3RD PERCENTILE(HP:0003561), HYPERTELORISM(HP:0000316), MICROPENIS(HP:0000054), CALVARIAL OSTEOSCLEROSIS(HP:0005450), LONG PHILTRUM(HP:0000343), THIN RIBS(HP:0000883), CONGENITAL HYPOPARATHYROIDISM(HP:0008198), NEONATAL HYPOPARATHYROIDISM(HP:0008199), THIN, LONG CLAVICLES(HP:0006645), TETANY(HP:0001281), LOW-SET EARS(HP:0000369), LOW PARATHYROID HORMONE(HP:0000856), POSTERIORLY ROTATED EARS(HP:0000358), PROPORTIONATE SHORT STATURE(HP:0003508), PATCHY OSTEOSCLEROSIS(HP:0005686), RENAL TUBULAR DYSFUNCTION(HP:0000124), SMALL FEET(HP:0001764), INTRAUTERINE GROWTH FAILURE(HP:0008931), DELAYED CLOSURE OF THE ANTERIOR FONTANELLE(HP:0001476), BEAKED NOSE(HP:0000444), FRONTAL BOSSING(HP:0002007), MENTAL RETARDATION(HP:0001249), FLATTENED NASAL BRIDGE(HP:0000425), CARIOUS TEETH(HP:0000670), DECREASED SKULL OSSIFICATION(HP:0004331), THIN LONG BONES(HP:0003100), BIFID UVULA(HP:0000193), SMALL HANDS(HP:0001165), THIN LIPS(HP:0000213), MICROGNATHIA(HP:0000210), SEVERE INTRAUTERINE GROWTH RETARDATION(HP:0008846), MICROCEPHALY(HP:0000252), HYPOCALCEMIA(HP:0002901), DEEP SET EYES(HP:0000490), HYPERPHOSPHATEMIA(HP:0002905)]
6906	SERPINA7	[PSYCHOMOTOR RETARDATION(HP:0001255), METABOLISM ABNORMALITY(HP:0001939), X-LINKED RECESSIVE INHERITANCE(HP:0001419)]
6908	TBP	[BRADYKINESIA(HP:0002067), GAIT ATAXIA(HP:0002066), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LIMB ATAXIA(HP:0002070), HYPOSMIA(HP:0004409), CHOREA(HP:0002072), IMPAIRED PURSUIT INITIATION AND MAINTENANCE(HP:0007668), APRAXIA(HP:0002186), URINARY INCONTINENCE(HP:0000020), RIGIDITY(HP:0002063), SEIZURES(HP:0001250), PROGRESSIVE DISORDER(HP:0003676), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), GAZE-EVOKED NYSTAGMUS(HP:0000640), INTENTION TREMOR(HP:0002080), MASK-LIKE FACIES(HP:0000298), SOFT VOICE(HP:0001621), CEREBELLAR ATROPHY(HP:0001272), HETEROGENEOUS(HP:0001425), PERSONALITY CHANGES(HP:0000751), DYSMETRIA(HP:0001310), DIFFUSE CEREBRAL ATROPHY(HP:0002506), HALLUCINATIONS(HP:0000738), FRONTAL RELEASE SIGNS(HP:0000743), BROAD-BASED GAIT(HP:0002136), PARKINSONISM(HP:0001300), CONFUSION(HP:0001289), LACK OF INSIGHT(HP:0000757), MYOCLONUS(HP:0001336), MUTISM(HP:0002300), NEURONAL LOSS(HP:0002400), DEPRESSION(HP:0000716), AGGRESSIVE BEHAVIOR(HP:0000718), POSITIVE ROMBERG SIGN(HP:0002403), GLIOSIS(HP:0002171), DYSTONIA(HP:0001332), SHORT STEPPED SHUFFLING GAIT(HP:0007311), FRONTAL LOBE DEMENTIA(HP:0000727)]
6910	TBX5	[PATENT DUCTUS ARTERIOSUS(HP:0001643), HYPOPLASIA OF THE RADIUS(HP:0002984), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), APLASIA OF THE THUMB(HP:0009777), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), APLASIA OF THE PECTORALIS MAJOR MUSCLE(HP:0009751), PHOCOMELIA(HP:0009829), ABNORMALITY OF THE STERNUM(HP:0000766), THORACIC SCOLIOSIS(HP:0002943), ABNORMALITY OF THE CARPAL BONES(HP:0001191), TRIPHALANGEAL THUMB(HP:0001199), PARTIAL DUPLICATION OF THE PHALANGES OF THE THUMB(HP:0009944)]
6913	TBX15	[FIBULAR APLASIA(HP:0002990), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ALVEOLAR RIDGE OVERGROWTH(HP:0009085), MICROPHTHALMOS(HP:0000568), AMBIGUOUS GENITALIA, MALE(HP:0000033), RHIZOMELIC SHORTENING(HP:0002968), AMBIGUOUS GENITALIA, FEMALE(HP:0000061), HYPOPLASTIC SCAPULAE(HP:0000882), PROMINENT PROTRUDING COCCYX(HP:0008472), LONG CLAVICLES(HP:0000890), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), BELL-SHAPED CHEST(HP:0001591), BLEPHAROPHIMOSIS(HP:0000581), SHORT STATURE, DISPROPORTIONATE(HP:0003498), SMALL, SIMPLE EARS(HP:0000379), MESOMELIA(HP:0003027), HYDRONEPHROSIS(HP:0000126), ANTERIOR ROUNDING OF VERTEBRAL BODIES(HP:0008488), TALIPES EQUINOVARUS(HP:0001762), CAMPTODACTYLY (HANDS)(HP:0010563), TOE SYNDACTYLY(HP:0001770), WRIST CONTRACTURES(HP:0001239), HYPOPLASTIC ILIAC WINGS(HP:0002866), HYDRANENCEPHALY(HP:0002324), MICROGLOSSIA(HP:0000171), CLEFT PALATE(HP:0000175), HYPOPLASTIC ISCHIA(HP:0003175), HYPOPLASTIC PUBIC BONES(HP:0003173), DISLOCATED RADIAL HEAD(HP:0003083), MICROGNATHIA(HP:0000210), HYDROCEPHALUS(HP:0000238), ABSENT PROXIMAL FINGER FLEXION CREASES(HP:0006077), MICROCORNEA(HP:0000482)]
6916	TBXAS1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMAL PLATELET AGGREGATION(HP:0003540), BLEEDING DIATHESIS(HP:0001892), LEUKOPENIA(HP:0001882), HEMATURIA(HP:0000790), GASTROINTESTINAL HEMORRHAGE(HP:0002239), THROMBOCYTOPENIA(HP:0001873), BONE MARROW HYPOPLASIA(HP:0005528), DIAPHYSEAL SCLEROSIS(HP:0003034), REFRACTORY ANEMIA(HP:0005505), PETECHIAE(HP:0000967), EPISTAXIS(HP:0000421)]
6926	TBX3	[DELAYED PUBERTY(HP:0000823), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AXILLARY APOCRINE GLAND HYPOPLASIA(HP:0007397), INGUINAL HERNIA(HP:0000023), SUBGLOTTIC STENOSIS(HP:0001607), SHAWL SCROTUM(HP:0000049), MICROPENIS(HP:0000054), SPARSE AXILLARY HAIR(HP:0002215), HYPOPLASTIC SCAPULAE(HP:0000882), HYPOPLASTIC/ABSENT/DEFORMED ULNA(HP:0006388), SHORT FOURTH AND FIFTH TOES(HP:0008093), HYPOPLASTIC NIPPLES(HP:0002557), PYLORIC STENOSIS(HP:0002021), ANAL ATRESIA(HP:0002023), ANAL STENOSIS(HP:0002025), HYPOPLASTIC/ABSENT/DEFORMED RADIUS(HP:0005046), BREAST HYPOPLASIA(HP:0003187), HYPODONTIA(HP:0000668), OBESITY(HP:0001513), HYPOPLASTIC CLAVICLES(HP:0000898), ABNORMALITY OF THE EYES(HP:0000478), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), HUMERAL HYPOPLASIA(HP:0005792), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462)]
6927	HNF1A	[NONINSULIN-DEPENDENT DIABETES MELLITUS(HP:0005978), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE ABDOMEN(HP:0001438), SCLEROCYSTIC OVARIES(HP:0008657), ERYTHROCYTOSIS(HP:0001901), HYPERGLYCEMIA(HP:0003074), MULTIPLE TUMORS(HP:0003008), EARLY ONSET(HP:0003593), PAPILLARY RENAL CELL CARCINOMA(HP:0006766), INSULIN-DEPENDENT MATURITY-ONSET DIABETES OF THE YOUNG(HP:0004904)]
6928	HNF1B	[NONINSULIN-DEPENDENT DIABETES MELLITUS(HP:0005978), ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INTERSTITIAL FIBROSIS(HP:0000129), HYPOPLASTIC UTERUS(HP:0000013), RENAL CORTICAL ATROPHY(HP:0002048), HIGHLY VARIABLE PHENOTYPE(HP:0003815), BICORNUATE UTERUS(HP:0000813), SUBCLINICAL ABNORMAL LIVER FUNCTION TESTS(HP:0006578), KIDNEY STONES(HP:0000787), SUBCLINICAL DEFECT IN PANCREATIC EXOCRINE FUNCTION(HP:0004509), HYPOSPADIAS(HP:0000047), KIDNEY MALFORMATION(HP:0000792), GROWTH ABNORMALITY(HP:0001507), INSULIN-DEPENDENT MATURITY-ONSET DIABETES OF THE YOUNG(HP:0004904), GOUT(HP:0001997), DECREASED NUMBERS OF GLOMERULI(HP:0005563), INCREASED SERUM CREATININE(HP:0003227), URETEROPELVIC JUNCTION OBSTRUCTION(HP:0000074), PROTEINURIA(HP:0000093), RENAL HYPOPLASIA(HP:0000089), CEREBRAL CORTICAL ATROPHY(HP:0002120), GLYCOSURIA(HP:0003076), VARIABLE AGE AT ONSET(HP:0003618), CHRONIC RENAL FAILURE(HP:0000101), RENAL CYSTS(HP:0000107), GLUCOSE INTOLERANCE(HP:0000833), HYPERURICEMIA(HP:0002149), LATE ONSET(HP:0003584), UNILATERAL RENAL AGENESIS(HP:0000122)]
6948	TCN2	[DECREASED IGM(HP:0002850), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), WEAKNESS(HP:0002309), RETICULOCYTOPENIA(HP:0001896), ABNORMALITY OF THE MOUTH(HP:0000153), DECREASED IGA(HP:0002720), LETHARGY(HP:0001254), ATAXIA(HP:0001251), MENTAL RETARDATION(HP:0001249), NEUTROPENIA(HP:0001875), DIARRHEA(HP:0002014), PANCYTOPENIA(HP:0001876), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), MACROCYTIC ANEMIA(HP:0001972), MEGALOBLASTIC BONE MARROW(HP:0001980), IRRITABILITY(HP:0000737), MUSCLE WEAKNESS(HP:0001324), DECREASED IGG LEVEL(HP:0004315)]
6949	TCOF1	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), VISUAL LOSS(HP:0000572), NASOLACRIMAL DUCT STENOSIS(HP:0007678), CRYPTORCHIDISM(HP:0000028), BILATERAL MICROPHTHALMOS(HP:0007633), MALFORMATION OF AURICLE(HP:0004465), MANDIBULAR HYPOPLASIA(HP:0000347), HYPOPLASIA OF THE PHARYNX(HP:0009555), PROJECTION OF SCALP HAIR ONTO LATERAL CHEEK(HP:0009554), UPPER EYELID COLOBOMA(HP:0000636), AUDITORY CANAL ABNORMALITY(HP:0000372), ABNORMAL FORM OF EARS(HP:0000377), CONDUCTIVE DEAFNESS(HP:0000367), PREAURICULAR SKIN TAG(HP:0000384), LOWER EYELID COLOBOMA(HP:0000652), MENTAL RETARDATION(HP:0001249), MICROSTOMIA(HP:0000160), MANDIBULOFACIAL DYSOSTOSIS(HP:0005321), CARDIAC MALFORMATION(HP:0002564), PARTIAL-TOTAL ABSENCE OF LOWER EYELASHES(HP:0007785), CLEFT SOFT PALATE(HP:0000185), PARTIAL ABSENCE OF LOWER EYELASHES(HP:0007776), MACROSTOMIA(HP:0000181), ABNORMALITY OF PAROTID GLAND(HP:0000197), VELOPHARYNGEAL INSUFFICIENCY(HP:0000220), CHOANAL ATRESIA(HP:0000453), PTOSIS(HP:0000508), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486)]
6955	TRA@	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), T-CELL LYMPHOMA/LEUKEMIA(HP:0005517)]
7003	TEAD1	[PERIPAPILLARY CHORIORETINAL ATROPHY(HP:0007950), SLOW PROGRESSION(HP:0003677), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545)]
7007	TECTA	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), ONSET IN CHILDHOOD(HP:0003578)]
7010	TEK	[ABNORMALITY OF THE MOUTH(HP:0000153), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE ABDOMEN(HP:0001438)]
7012	TERC	[APLASTIC ANEMIA(HP:0001915), PULMONARY FIBROSIS(HP:0002206), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ORAL LEUKOPLAKIA(HP:0002745), PANCYTOPENIA(HP:0001876), CIRRHOSIS(HP:0001394), CARIOUS TEETH(HP:0000670), PREMATURE GRAYING OF HAIR(HP:0002216), DERMAL ATROPHY(HP:0004334), SPARSE HAIR(HP:0008070), HETEROGENEOUS(HP:0001425), SQUAMOUS CELL CARCINOMA OF THE SKIN(HP:0006739), RETICULAR HYPERPIGMENTATION(HP:0007588), ALOPECIA(HP:0001596), INTERSTITIAL PNEUMONITIS(HP:0006515), NAIL DYSPLASIA(HP:0002164), HYPOPLASTIC MYELODYSPLASIA(HP:0004832), NAIL RIDGING(HP:0001807), EARLY TOOTH LOSS(HP:0001564), NAIL PITTING(HP:0001803)]
7015	TERT	[APLASTIC ANEMIA(HP:0001915), PULMONARY FIBROSIS(HP:0002206), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ORAL LEUKOPLAKIA(HP:0002745), PANCYTOPENIA(HP:0001876), CIRRHOSIS(HP:0001394), CARIOUS TEETH(HP:0000670), PREMATURE GRAYING OF HAIR(HP:0002216), DERMAL ATROPHY(HP:0004334), SPARSE HAIR(HP:0008070), HETEROGENEOUS(HP:0001425), SQUAMOUS CELL CARCINOMA OF THE SKIN(HP:0006739), RETICULAR HYPERPIGMENTATION(HP:0007588), ALOPECIA(HP:0001596), INTERSTITIAL PNEUMONITIS(HP:0006515), NAIL DYSPLASIA(HP:0002164), HYPOPLASTIC MYELODYSPLASIA(HP:0004832), NAIL RIDGING(HP:0001807), EARLY TOOTH LOSS(HP:0001564), NAIL PITTING(HP:0001803)]
7018	TF	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SYNDACTYLY(HP:0001159), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), ABNORMALITY OF THE LIVER(HP:0001392), ANEMIA(HP:0001903), ABNORMALITY OF THE FACE(HP:0000271)]
7020	TFAP2A	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), FUSION OF MIDDLE EAR OSSICLES(HP:0005473), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), HYPOPLASTIC/SMALL THUMB(HP:0009778), CATARACT(HP:0000518), HYPERNASAL SPEECH(HP:0001614), IMMUNOLOGICAL ABNORMALITY(HP:0002715), HYPOSPADIAS(HP:0000047), PREMATURE GRAYING OF HAIR(HP:0002216), ANOPHTHALMIA(HP:0000528), WHITE FORELOCK(HP:0002211), KYPHOSIS(HP:0002808), POSTERIOR AURICULAR PIT(HP:0004464), IRIS COLOBOMA(HP:0000612), PREAURICULAR SINUS(HP:0004467), NYSTAGMUS(HP:0000639), NASOLACRIMAL DUCT OBSTRUCTION(HP:0000579), UPSLANTING PALPEBRAL FISSURES(HP:0000582), BRANCHIAL ANOMALIES(HP:0009794), APLASIA CUTIS CONGENITA(HP:0001057), RENAL CYSTS(HP:0000107), RENAL AGENESIS(HP:0000104), WIDE INTERMAMILLARY DISTANCE(HP:0006610), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), MENTAL RETARDATION, MILD(HP:0001256), ABNORMALITY OF THE TEETH(HP:0000164), ABNORMALITY OF UPPER LIP(HP:0000177), LOWER LIP PIT(HP:0000196), HEMANGIOMATOSIS(HP:0007461), PREAXIAL POLYDACTYLY (HANDS)(HP:0001177), MICROGNATHIA(HP:0000210), LOW POSTERIOR HAIRLINE(HP:0002162), MICROCEPHALY(HP:0000252), MALAR HYPOPLASIA(HP:0000272), ELBOW CONTRACTURES(HP:0002987), DUPLICATION OF INTERNAL ORGANS(HP:0005217), DOLICHOCEPHALY(HP:0000268), HYPERTELORISM(HP:0000316), HYPOPLASTIC SUPERIOR HELIX(HP:0008559), SMALL FOREHEAD(HP:0000350), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), LOW-SET, POSTERIORLY ROTATED EARS(HP:0000368), HYPOPLASTIC FINGERNAILS(HP:0001804), SUPERNUMERARY NIPPLES(HP:0002558), TRANSVERSE PALMAR CREASES(HP:0000954), PROXIMALLY PLACED THUMB(HP:0009623), FLARED IRREGULAR METAPHYSES(HP:0000945), HEARING LOSS, SENSORINEURAL(HP:0000407), HEARING LOSS, CONDUCTIVE(HP:0000405), MICROTIA(HP:0000393), PYLORIC STENOSIS(HP:0002021), GASTROESOPHAGEAL REFLUX(HP:0002020), OVERFOLDED HELICES(HP:0000396), AGENESIS OF CEREBELLAR VERMIS(HP:0002335), FLATTENED NASAL BRIDGE(HP:0000425), SHORT NASAL SEPTUM(HP:0000420), PRENATAL GROWTH DEFICIENCY(HP:0001515), MALROTATION OF COLON(HP:0004785), DERMAL ATROPHY(HP:0004334), SUPRAAURICULAR SINUSES(HP:0008606), SHORT NECK(HP:0000470), ABNORMALITY OF THE SCALP(HP:0001965), BROAD NASAL TIP(HP:0000455), LORDOSIS(HP:0002939), PTOSIS(HP:0000508), ATYPICAL SCARRING(HP:0000987), TELECANTHUS(HP:0000506), STRABISMUS(HP:0000486), RETINAL COLOBOMA(HP:0000480)]
7021	TFAP2B	[PATENT DUCTUS ARTERIOSUS(HP:0001643), PROMINENT EARS(HP:0000412), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), THICK, ARCHED EYEBROWS(HP:0004533), SYMPHALANGISM OF THE DISTAL AND MIDDLE PHALANGES OF THE 5TH FINGER(HP:0009176), HYPERTELORISM(HP:0000316), MENTAL RETARDATION, MILD(HP:0001256), TRIANGULAR MOUTH(HP:0000207), BROAD FOREHEAD(HP:0000337), SHORT PHILTRUM(HP:0000322), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), BROAD NASAL TIP(HP:0000455), PTOSIS(HP:0000508), LOW-SET EARS(HP:0000369), STRABISMUS(HP:0000486)]
7030	TFE3	[X-LINKED INHERITANCE(HP:0001417)]
7038	TG	[HYPOTHYROIDISM(HP:0000821), METABOLISM ABNORMALITY(HP:0001939), MENTAL RETARDATION(HP:0001249), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGENITAL GOITER(HP:0008251)]
7039	TGFA	[ACANTHOSIS NIGRICANS(HP:0000956), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MALIGNANT MELANOMA(HP:0002861)]
7040	TGFB1	[DELAYED PUBERTY(HP:0000823), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEADACHE(HP:0002315), GENU VALGUM(HP:0002857), DEAFNESS(HP:0000404), LIMB PAIN(HP:0009763), ANEMIA(HP:0001903), POOR APPETITE(HP:0004396), OPTIC NERVE COMPRESSION(HP:0007807), DIPLOPIA(HP:0000651), EXOPHTHALMOS(HP:0000645), ASTHENIC HABITUS(HP:0001533), CARIOUS TEETH(HP:0000670), SCLEROTIC SKULL BASE(HP:0002694), ONSET IN CHILDHOOD(HP:0003578), MANDIBULAR PROGNATHIA(HP:0000303), DECREASED SUBCUTANEOUS FAT(HP:0001002), AMYOTROPHY(HP:0003202), CORTICAL THICKENING OF LONG BONE DIAPHYSES(HP:0005791), WADDLING GAIT(HP:0002515), SCOLIOSIS(HP:0002650), BONE MARROW HYPOPLASIA(HP:0005528), DIAPHYSEAL SCLEROSIS(HP:0003034), MUSCLE WEAKNESS(HP:0001324), EASY FATIGABILITY(HP:0003388)]
7043	TGFB3	[PREMATURE SUDDEN CARDIAC DEATH(HP:0005161), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CARDIOMYOPATHY(HP:0001638), VENTRICULAR ARRHYTHMIA(HP:0004308)]
7045	TGFBI	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NODULAR CORNEAL DYSTROPHY(HP:0007827), PHOTOPHOBIA(HP:0000613), CORNEAL SCARRING(HP:0000559), JUVENILE EPITHELIAL CORNEAL DYSTROPHY(HP:0007755), PUNCTATE CORNEAL DYSTROPHY(HP:0007809), MAP-DOT-FINGERPRINT CORNEAL DYSTROPHY(HP:0007690), GRANULAR CORNEAL DYSTROPHY(HP:0007802), CATARACT(HP:0000518), LATTICE CORNEAL DYSTROPHY(HP:0001149), RECURRENT CORNEAL EROSIONS(HP:0000495), PROGRESSIVE VISUAL LOSS(HP:0000529), STRABISMUS(HP:0000486)]
7046	TGFBR1	[PATENT DUCTUS ARTERIOSUS(HP:0001643), MALAR HYPOPLASIA(HP:0000272), BICUSPID AORTIC VALVE(HP:0001647), RETROGNATHIA(HP:0000278), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MITRAL VALVE PROLAPSE(HP:0001634), CRANIOSYNOSTOSIS(HP:0001363), PROPTOSIS(HP:0000520), HYPERTELORISM(HP:0000316), JOINT LAXITY(HP:0001388), ATRIAL SEPTAL DEFECT(HP:0001631), CEREBRAL ANEURYSM(HP:0004944), DESCENDING AORTIC ANEURYSM(HP:0004954), ARTERIAL TORTUOSITY, GENERALIZED(HP:0004955), DERMAL TRANSLUCENCY(HP:0010648), BICUSPID PULMONARY VALVE(HP:0005182), ASCENDING AORTIC DISSECTION(HP:0004933), PULMONARY ARTERY ANEURYSM(HP:0004937), EXOTROPIA(HP:0000577), BLUE SCLERAE(HP:0000592), TALIPES EQUINOVARUS(HP:0001762), ARNOLD-CHIARI MALFORMATION(HP:0002308), CAMPTODACTYLY (HANDS)(HP:0010563), CLEFT PALATE(HP:0000175), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), DOLICHOSTENOMELIA(HP:0001519), HETEROGENEOUS(HP:0001425), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), BIFID UVULA(HP:0000193), ARACHNODACTYLY(HP:0001166), ABNORMALITY OF THE STERNUM(HP:0000766), MICROGNATHIA(HP:0000210), HYDROCEPHALUS(HP:0000238), SOFT SKIN(HP:0000977), SCOLIOSIS(HP:0002650), ASCENDING AORTIC ANEURYSM(HP:0002631)]
7048	TGFBR2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
7050	TGIF1	[SEMILOBAR HOLOPROSENCEPHALY(HP:0002507), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PTOSIS(HP:0000508), MEDIAN CLEFT LIP(HP:0000161), FLATTENED NASAL BRIDGE(HP:0000425), HYPOTELORISM(HP:0000601), ABSENT NASAL SEPTAL CARTILAGE(HP:0005273), WIDE MIDLINE CLEFT LIP/PALATE(HP:0009089), FLATTENED NASAL TIP(HP:0005279)]
7051	TGM1	[MENTAL RETARDATION(HP:0001249), ICHTHYOSIS(HP:0000955), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA(HP:0007431), GROWTH RETARDATION(HP:0001510), CONGENITAL ICHTHYOSIS(HP:0007484), HAIR ABNORMALITY(HP:0001595), GENITAL HYPOPLASIA(HP:0003241), CONGENITAL NONBULLOUS ICHTHYOSIFORM ERYTHRODERMA(HP:0007479)]
7054	TH	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), GAIT ATAXIA(HP:0002066), EXTRAPYRAMIDAL SIGNS(HP:0002071), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LIMB DYSTONIA(HP:0002451), RIGIDITY(HP:0002063), INVOLUNTARY JERKING MOVEMENTS(HP:0007087), MOTOR RETARDATION(HP:0001270), DECREASED CSF HOMOVANILLIC ACID (HVA)(HP:0003785), MASK-LIKE FACIES(HP:0000298), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), HYPOKINESIA(HP:0002375), PARKINSONISM(HP:0001300), SPEECH DELAY(HP:0002117), TREMOR(HP:0001337), PTOSIS(HP:0000508), METABOLISM ABNORMALITY(HP:0001939), FAVORABLE RESPONSE TO LEVODOPA(HP:0002548), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
7066	THPO	[HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SOMATIC MUTATION(HP:0001428), ABNORMAL PLATELET AGGREGATION(HP:0003540), MYELOPROLIFERATIVE DISORDER(HP:0005547), THROMBOCYTOSIS(HP:0001894), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), ACROCYANOSIS(HP:0001063), MILD SPLENOMEGALY(HP:0001745)]
7067	THRA	[CONGENITAL HYPOTHYROIDISM(HP:0000851), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
7068	THRB	[THYROID HORMONE RESISTANCE(HP:0008262), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SPEECH DELAY(HP:0002117), END-ORGAN UNRESPONSIVENESS TO THYROID HORMONE(HP:0008215), VARIABLE SHORT STATURE(HP:0008888), STIPPLING OF THE EPIPHYSES(HP:0010655), NEOPLASIA(HP:0002664), HYPERACTIVITY(HP:0000752), TACHYCARDIA(HP:0001649), CONGENITAL DEAFNESS(HP:0001728), COGNITIVE DEFICITS(HP:0002337), PITUITARY RESISTANCE TO THYROID HORMONE(HP:0008227), GOITER(HP:0000853), EXOPHTHALMOS(HP:0000645), LEARNING DISABILITY(HP:0001328), ATTENTION DEFICIT HYPERACTIVITY DISORDER(HP:0007018), HYPOTHALAMIC HYPOTHYROIDISM(HP:0008237), MILD HYPERTHYROIDISM(HP:0008241), USUALLY AUTOSOMAL DOMINANT(HP:0001455), HYPERKINESIS(HP:0002487)]
7077	TIMP2	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BREAST CANCER(HP:0003002)]
7078	TIMP3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MACULAR DYSTROPHY(HP:0007754)]
7080	NKX2-1	[RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CHOREA(HP:0002072), VARIABLE PHENOTYPE(HP:0003813), RESPIRATORY DISTRESS(HP:0002098), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), DYSARTHRIA(HP:0001260), GAIT ABNORMALITIES MAY OCCUR(HP:0006953), DIFFICULTY WALKING IN CHILDHOOD(HP:0007101), MOTOR RETARDATION(HP:0001270), CHOREOATHETOSIS(HP:0001266), ONSET AT BIRTH(HP:0003577), ONSET IN CHILDHOOD(HP:0003578), INCREASED SERUM THYROID-STIMULATING HORMONE (TSH)(HP:0002925), COMPENSATED HYPOTHYROIDISM(HP:0008223), CONGENITAL HYPOTHYROIDISM(HP:0000851), NEONATAL RESPIRATORY DISTRESS(HP:0002643), CONGENITAL GOITER(HP:0008251)]
7084	TK2	[RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LIMB MUSCLE WEAKNESS(HP:0003690), VARIABLE PHENOTYPE(HP:0003813), LOSS OF ABILITY TO WALK IN EARLY CHILDHOOD(HP:0008945), CEREBRAL ATROPHY(HP:0002059), FACIAL DIPLEGIA(HP:0001349), SKELETAL MUSCLE TISSUE SHOWS 14 TO 45% DEPLETION OF MITOCHONDRIAL DNA(HP:0009070), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), IMAGING SHOWS SIGNAL ABNORMALITIES IN BASAL GANGLIA(HP:0007257), ONSET BEFORE AGE 2 YEARS(HP:0003667), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), RESPIRATORY INSUFFICIENCY(HP:0002093), HYPOKINESIA(HP:0002375), MITOCHONDRIAL INHERITANCE(HP:0001427), IRRITABILITY(HP:0000737), RAGGED-RED MUSCLE FIBERS(HP:0003200), INABILITY TO WALK(HP:0002540), LACTIC ACIDEMIA(HP:0003128), MUSCLE ATROPHY, DIFFUSE(HP:0008987), AMINOACIDURIA(HP:0002903), INCREASED SERUM CREATINE KINASE(HP:0002147), GOWER SIGN(HP:0003391), DECREASED ACTIVITIES OF MITOCHONDRIAL-ENCODED RESPIRATORY CHAIN COMPLEXES(HP:0008972), DELAYED MOTOR SKILLS(HP:0008973), HEARING LOSS(HP:0000365), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
7124	TNF	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEOPLASIA(HP:0002664)]
7132	TNFRSF1A	[ABNORMALITY OF THE EYES(HP:0000478), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE THORAX(HP:0000765), VARIABLE AGE AT ONSET(HP:0003618), MUSCLE STIFFNESS(HP:0003552), SKIN RASH(HP:0000988), MYALGIA(HP:0003326), ELEVATED ERYTHROCYTE SEDIMENTATION RATE(HP:0003565), ARTHRALGIA(HP:0002829), ABNORMALITY OF THE LIVER(HP:0001392), FEVER(HP:0001945)]
7136	TNNI2	[SEVERE CAMPTODACTYLY(HP:0006195), TALIPES EQUINOVARUS(HP:0001762), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HIGH-ARCHED PALATE(HP:0000156), MICROSTOMIA(HP:0000160), BROAD NASAL ROOT(HP:0000424), ARTHROGRYPOSIS(HP:0001390), BROAD NASAL BRIDGE(HP:0000431), LONG PHILTRUM(HP:0000343), ULNAR DEVIATION OF THE WRIST(HP:0003049), CALCANEOVALGUS DEFORMITIES(HP:0001848), MANDIBULAR HYPOPLASIA(HP:0000347), DECREASED BODY HEIGHT(HP:0004322), METATARSUS VARUS(HP:0001840), ARTHROGRYPOSIS MULTIPLEX CONGENITA(HP:0002804), WEBBED NECK(HP:0000465), VERTICAL TALUS(HP:0001838), TRIANGULAR FACIES(HP:0000325), APLASIA/HYPOPLASTIA OF THE INTERPHALANGEAL CREASES(HP:0006031), MICROGNATHIA(HP:0000210), WIDENING OF CERVICAL SPINAL CANAL(HP:0004571), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), SCOLIOSIS(HP:0002650), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), ABNORMALITY OF THE EARS(HP:0000598), PROMINENT NASOLABIAL FOLDS(HP:0005272)]
7137	TNNI3	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RESTRICTIVE CARDIOMYOPATHY(HP:0001723)]
7138	TNNT1	[PECTUS CARINATUM, SEVERE(HP:0006639), CONTRACTURES(HP:0001371), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LIMITED GROSS MOTOR DEVELOPMENT(HP:0007046), PROXIMAL AMYOTROPHY(HP:0007126), TREMOR(HP:0001337), NEMALINE BODIES(HP:0003798), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), MUSCLE BIOPSY SHOWS NONSPECIFIC MYOPATHIC CHANGES WITHOUT DYSTROPHIC OR INFLAMMATORY CHANGES(HP:0003802), TYPE 1 MUSCLE FIBER PREDOMINANCE(HP:0003803), MUSCLE WEAKNESS, PROGRESSIVE(HP:0003323), DECREASED HIP ABDUCTION(HP:0003184), ONSET IN INFANCY(HP:0003576)]
7139	TNNT2	[DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639)]
7140	TNNT3	[SEVERE CAMPTODACTYLY(HP:0006195), TALIPES EQUINOVARUS(HP:0001762), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HIGH-ARCHED PALATE(HP:0000156), MICROSTOMIA(HP:0000160), BROAD NASAL ROOT(HP:0000424), ARTHROGRYPOSIS(HP:0001390), BROAD NASAL BRIDGE(HP:0000431), LONG PHILTRUM(HP:0000343), ULNAR DEVIATION OF THE WRIST(HP:0003049), CALCANEOVALGUS DEFORMITIES(HP:0001848), MANDIBULAR HYPOPLASIA(HP:0000347), DECREASED BODY HEIGHT(HP:0004322), METATARSUS VARUS(HP:0001840), ARTHROGRYPOSIS MULTIPLEX CONGENITA(HP:0002804), WEBBED NECK(HP:0000465), VERTICAL TALUS(HP:0001838), TRIANGULAR FACIES(HP:0000325), APLASIA/HYPOPLASTIA OF THE INTERPHALANGEAL CREASES(HP:0006031), MICROGNATHIA(HP:0000210), WIDENING OF CERVICAL SPINAL CANAL(HP:0004571), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), SCOLIOSIS(HP:0002650), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), ABNORMALITY OF THE EARS(HP:0000598), PROMINENT NASOLABIAL FOLDS(HP:0005272)]
7148	TNXB	[JOINT DISLOCATION(HP:0001373), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MITRAL VALVE PROLAPSE(HP:0001634), SOFT SKIN(HP:0000977), HYPEREXTENSIBLE SKIN(HP:0000974), JOINT HYPERMOBILITY(HP:0001382), OSTEOARTHRITIS(HP:0002758)]
7157	TP53	[HETEROGENEOUS(HP:0001425), TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), SUBACUTE PROGRESSIVE VIRAL HEPATITIS(HP:0006572), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ENDOCRINE ABNORMALITY(HP:0000818), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ADRENOCORTICAL CARCINOMA(HP:0006744), MICRONODULAR CIRRHOSIS(HP:0001413), BREAST CANCER(HP:0003002), COLON CANCER(HP:0003003), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), OSTEOGENIC SARCOMA(HP:0002669), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), METABOLISM ABNORMALITY(HP:0001939), HEPATOCELLULAR CARCINOMA(HP:0001402), UTERINE LEIOMYOSARCOMA(HP:0002891), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716), CHOROID PLEXUS PAPILLOMA(HP:0200022), NEOPLASIA OF THE PANCREAS(HP:0002894), ACUTE LEUKEMIA(HP:0002488), EARLY ONSET(HP:0003593)]
7162	TPBG	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
7167	TPI1	[JAUNDICE(HP:0000952), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONGESTIVE HEART FAILURE(HP:0001635), NORMOCYTIC ANEMIA(HP:0001897), NORMOCHROMIC ANEMIA(HP:0001895), MYOPATHY(HP:0003198), METABOLISM ABNORMALITY(HP:0001939), DEVELOPMENTAL RETARDATION(HP:0001263), SPLENOMEGALY(HP:0001744), CHOLECYSTITIS(HP:0001082), CHOLELITHIASIS(HP:0001081), NONSPHEROCYTIC HEMOLYTIC ANEMIA(HP:0001930)]
7168	TPM1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639)]
7169	TPM2	[CONGENITAL HIP DISLOCATION(HP:0001374), JOINT CONTRACTURES(HP:0001372), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), KNEE CONTRACTURES(HP:0002978), HIP CONTRACTURES(HP:0003273), CRYPTORCHIDISM(HP:0000028), STIFF SHOULDERS(HP:0009742), ARTHROGRYPOSIS(HP:0001390), APLASIA OF THE DISTAL INTERPHALANGEAL CREASES(HP:0001032), ULNAR DEVIATION OF THE WRIST(HP:0003049), LONG PHILTRUM(HP:0000343), CALCANEOVALGUS DEFORMITIES(HP:0001848), MANDIBULAR HYPOPLASIA(HP:0000347), METATARSUS VARUS(HP:0001840), ARTHROGRYPOSIS MULTIPLEX CONGENITA(HP:0002804), VERTICAL TALUS(HP:0001838), TRIANGULAR FACIES(HP:0000325), ABNORMALITY OF THE EARS(HP:0000598), TALIPES EQUINOVARUS(HP:0001762), SEVERE CAMPTODACTYLY(HP:0006195), TRANSVERSE PALMAR CREASES(HP:0000954), HIGH-ARCHED PALATE(HP:0000156), MICROSTOMIA(HP:0000160), DECREASED HIP ABDUCTION(HP:0003184), BROAD NASAL ROOT(HP:0000424), BROAD NASAL BRIDGE(HP:0000431), HETEROGENEOUS(HP:0001425), DECREASED BODY HEIGHT(HP:0004322), WEBBED NECK(HP:0000465), ABNORMALITY OF THE THORAX(HP:0000765), ADDUCTED THUMBS(HP:0001181), MICROGNATHIA(HP:0000210), TRISMUS(HP:0000211), WIDENING OF CERVICAL SPINAL CANAL(HP:0004571), CLENCHED HANDS(HP:0001188), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), SCOLIOSIS(HP:0002650), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), PROMINENT NASOLABIAL FOLDS(HP:0005272)]
7170	TPM3	[PES CAVUS(HP:0001761), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WEAKNESS(HP:0002309), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PROXIMAL MUSCLE WEAKNESS(HP:0003701), FACIAL DIPLEGIA(HP:0001349), MUSCLE ATROPHY, LOWER LIMB, DISTAL(HP:0008949), GENERALIZED MUSCLE WEAKNESS(HP:0003324), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), MUSCLE WEAKNESS, LOWER LIMB, DISTAL(HP:0009053), DYSPHAGIA(HP:0002015), MOTOR RETARDATION(HP:0001270), ONSET IN CHILDHOOD(HP:0003578), RESPIRATORY INSUFFICIENCY(HP:0002093), HETEROGENEOUS(HP:0001425), NECK MUSCLE WEAKNESS(HP:0000467), SHOULDER GIRDLE MUSCLE ATROPHY(HP:0003724)]
7172	TPMT	[HYPOKINESIA(HP:0002375), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEMATOLOGICAL ABNORMALITY(HP:0001871)]
7173	TPO	[HYPOTHYROIDISM(HP:0000821), THYROID DEFECT IN OXIDATION AND ORGANIFICATION OF IODIDE(HP:0008263), METABOLISM ABNORMALITY(HP:0001939), GOITER(HP:0000853), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
7200	TRH	[DELAYED SKELETAL MATURATION(HP:0002750), DRY SKIN(HP:0000958), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), WEAKNESS(HP:0002309), DECREASED BODY HEIGHT(HP:0004322), CONSTIPATION(HP:0002019), METABOLISM ABNORMALITY(HP:0001939), MENTAL RETARDATION(HP:0001249), HYPOTHALAMIC HYPOTHYROIDISM(HP:0008237), HUSKY VOICE(HP:0001619)]
7227	TRPS1	[DELAYED SKELETAL MATURATION(HP:0002750), COXA PLANA(HP:0003280), RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), COXA MAGNA(HP:0003279), ABNORMALITY OF THE VOICE(HP:0001608), THIN HAIR(HP:0002237), PROMINENT, LONG PHILTRUM(HP:0004654), SLOW-GROWING HAIR(HP:0002217), PECTUS CARINATUM(HP:0000768), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), ACCELERATED BONE AGE AFTER PUBERTY(HP:0002805), KOILONYCHIA(HP:0001598), MILD OSTEOPENIA(HP:0002799), LONG, FLAT PHILTRUM(HP:0000323), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), LEUKONYCHIA(HP:0001820), THIN NAILS(HP:0001816), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), LARGE, PROMINENT EARS(HP:0000382), SPARSE, FINE HAIR(HP:0002291), THIN EYEBROWS(HP:0002554), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), PES PLANUS(HP:0001763), PROTRUDING EARS(HP:0000411), DELAYED DENTITION(HP:0000684), SHORT FEET(HP:0001766), DENTAL OVERCROWDING(HP:0000678), EBURNATED EPIPHYSES OF DISTAL PHALANGES(HP:0006105), SUPERNUMERARY TEETH(HP:0000672), SCAPULAR WINGING(HP:0003691), INFANTILE MUSCULAR HYPOTONIA(HP:0008947), MICRODONTIA(HP:0000691), DENTAL MALOCCLUSION(HP:0000689), PEAR-SHAPED NOSE(HP:0000447), NARROW PALATE(HP:0000189), HYPOPLASTIC NASAL ALAE(HP:0000430), SPARSE LATERAL EYEBROWS(HP:0005338), SMALL HANDS(HP:0001165), DECREASED BODY HEIGHT(HP:0004322), THIN UPPER LIP(HP:0000219), LORDOSIS(HP:0002939), SWELLING OF PROXIMAL INTERPHALANGEAL JOINTS(HP:0006253), MICROGNATHIA(HP:0000210), FLAT CAPITAL FEMORAL EPIPHYSES(HP:0003370), HYDROPS(HP:0000990), SCOLIOSIS(HP:0002650), EDEMA(HP:0000969), MILD GROWTH DEFICIENCY(HP:0008860), SEVERE BRACHYDACTYLY(HP:0001201), CONE-SHAPED EPIPHYSES OF MIDDLE AND PROXIMAL PHALANGES(HP:0006058)]
7248	TSC1	[HYPOTHYROIDISM(HP:0000821), CAFE-AU-LAIT SPOTS(HP:0000957), ASTROCYTOSIS(HP:0002446), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), FOCAL WHITE MATTER LESIONS(HP:0007042), PRECOCIOUS PUBERTY(HP:0000826), HIGHLY VARIABLE PHENOTYPE(HP:0003815), SUBCUTANEOUS NODULES(HP:0001482), GINGIVAL FIBROMATOSIS(HP:0000169), PREMATURE CHROMATID SEPARATION(HP:0200024), RENAL CELL CARCINOMA(HP:0005584), OPTIC GLIOMA(HP:0009734), CARDIAC RHABDOMYOMA(HP:0009729), RESPIRATORY ABNORMALITY(HP:0002086), ADULT ONSET HAS BEEN REPORTED(HP:0003662), COGNITIVE IMPAIRMENT(HP:0002128), BLURRED VISION(HP:0000622), PROJECTION OF SCALP HAIR ONTO LATERAL CHEEK(HP:0009554), INFANTILE SEIZURES(HP:0002391), WOLF-PARKINSON-WHITE SYNDROME(HP:0001716), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), COMPLEX PARTIAL SEIZURES(HP:0002384), INTRACRANIAL CALCIFICATION BY X-RAY OR CT(HP:0006848), ISOLATED CASES(HP:0001420), COGNITIVE DECLINE(HP:0002303), HYPOMELANOTIC MACULES(HP:0009719), SUBEPENDYMAL NODULES(HP:0009716), CORTICAL TUBERS(HP:0009717), AUTISM(HP:0000717), MULTIPLE BILATERAL RENAL ANGIOMYOLIPOMA(HP:0006772), ACHROMATIC RETINAL PATCHES(HP:0009727), SUBUNGUAL FIBROMATA(HP:0009724), EPENDYMOMA(HP:0002888), DENTAL ENAMEL PITS(HP:0009722), RENAL CYSTS(HP:0000107), ADENOMA SEBACEUM(HP:0009720), SHAGREEN PATCH(HP:0009721)]
7249	TSC2	[HYPOTHYROIDISM(HP:0000821), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PRECOCIOUS PUBERTY(HP:0000826), HIGHLY VARIABLE PHENOTYPE(HP:0003815), OPTIC GLIOMA(HP:0009734), CARDIAC RHABDOMYOMA(HP:0009729), PROJECTION OF SCALP HAIR ONTO LATERAL CHEEK(HP:0009554), INTRACRANIAL CALCIFICATION BY X-RAY OR CT(HP:0006848), RENAL CYSTS(HP:0000107), CAFE-AU-LAIT SPOTS(HP:0000957), SUBCUTANEOUS NODULES(HP:0001482), GINGIVAL FIBROMATOSIS(HP:0000169), PREMATURE CHROMATID SEPARATION(HP:0200024), MENTAL RETARDATION(HP:0001249), RENAL CELL CARCINOMA(HP:0005584), RESPIRATORY ABNORMALITY(HP:0002086), INFANTILE SEIZURES(HP:0002391), WOLF-PARKINSON-WHITE SYNDROME(HP:0001716), HYPOMELANOTIC MACULES(HP:0009719), SUBEPENDYMAL NODULES(HP:0009716), CORTICAL TUBERS(HP:0009717), AUTISM(HP:0000717), MULTIPLE BILATERAL RENAL ANGIOMYOLIPOMA(HP:0006772), ACHROMATIC RETINAL PATCHES(HP:0009727), EPENDYMOMA(HP:0002888), SUBUNGUAL FIBROMATA(HP:0009724), DENTAL ENAMEL PITS(HP:0009722), ADENOMA SEBACEUM(HP:0009720), SHAGREEN PATCH(HP:0009721)]
7252	TSHB	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), WIDE ANTERIOR FONTANEL(HP:0000260), MACROGLOSSIA(HP:0000158), MUSCULAR HYPOTONIA(HP:0001252), SEVERE GROWTH RETARDATION(HP:0001521), HOARSE CRY(HP:0001615), FLATTENED NASAL BRIDGE(HP:0000425), CONGENITAL HYPOTHYROIDISM(HP:0000851), METABOLISM ABNORMALITY(HP:0001939), UMBILICAL HERNIA(HP:0001537), OMPHALOCELE(HP:0001539), TSH DEFICIENT HYPOTHYROIDISM(HP:0008245), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
7253	TSHR	[ABNORMALITY OF THE EYES(HP:0000478), ACCELERATED SKELETAL MATURATION(HP:0005616), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOTHYROIDISM IN SUBSET OF PATIENTS(HP:0008203), ABNORMALITY OF THE SKIN(HP:0000951), INCREASED SERUM THYROID-STIMULATING HORMONE (TSH)(HP:0002925), SPEECH DELAY(HP:0002117), VARIABLE SEVERITY(HP:0003814), TACHYCARDIA(HP:0001649), HYPERACTIVITY(HP:0000752), ISOLATED CASES(HP:0001420), CONGENITAL HYPOTHYROIDISM(HP:0000851), GOITER(HP:0000853), MOTOR RETARDATION(HP:0001270), HYPERTHYROIDISM(HP:0000836), THYROID HYPERPLASIA(HP:0008249), LOW BIRTH WEIGHT(HP:0001518), ONSET IN INFANCY(HP:0003576), PREMATURE BIRTH(HP:0001622)]
7259	TSPYL1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GASTROESOPHAGEAL REFLUX(HP:0002020), BRADYCARDIA(HP:0001662), FEEDING DIFFICULTIES(HP:0002022), CRYPTORCHIDISM(HP:0000028), ABNORMALITY OF THE VOICE(HP:0001608), AMBIGUOUS GENITALIA, MALE(HP:0000033), APNEA(HP:0002104), GROWTH RETARDATION(HP:0001510), ABNORMALITY OF THE EYES(HP:0000478), VASCULAR TORTUOSITY(HP:0004948), TONGUE FASCICULATIONS(HP:0001308), LARYNGEAL STRIDOR(HP:0006511), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), PARTIAL DEVELOPMENT OF THE PENILE SHAFT(HP:0008708), METABOLISM ABNORMALITY(HP:0001939), TESTICULAR DYSGENESIS(HP:0008715), DYSPLASTIC TESTES(HP:0008733)]
7263	TST	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
7273	TTN	[DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCOMPLETE PENETRANCE(HP:0003829), WEAKNESS(HP:0002309), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CALF HYPERTROPHY(HP:0003703), PROXIMAL MUSCLE WEAKNESS(HP:0003701), MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES(HP:0003544), SLOW PROGRESSION(HP:0003677), GENERALIZED MUSCLE WEAKNESS(HP:0003324), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), RIMMED VACUOLES(HP:0003805), MOTOR RETARDATION(HP:0001270), ONSET IN ADULTHOOD(HP:0003581), ONSET AT BIRTH(HP:0003577), ONSET IN CHILDHOOD(HP:0003578), MITOCHONDRIAL INHERITANCE(HP:0001427), SUDDEN DEATH(HP:0001699), DISTAL MUSCLE WEAKNESS, MILD(HP:0009008), FACIAL MUSCLE WEAKNESS(HP:0010628), PTOSIS(HP:0000508), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), METABOLISM ABNORMALITY(HP:0001939), EARLY ONSET(HP:0003593), 'STEPPAGE' GAIT(HP:0003376)]
7274	TTPA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), XANTHELASMA(HP:0001114), AREFLEXIA(HP:0001284), SPINOCEREBELLAR ATAXIA(HP:0002513), METABOLISM ABNORMALITY(HP:0001939)]
7276	TTR	[NEUROPATHY(HP:0003407), RENAL AMYLOIDOSIS(HP:0001917), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ANOREXIA(HP:0002039), CONGESTIVE HEART FAILURE(HP:0001635), HEADACHE(HP:0002315), CARDIOMYOPATHY(HP:0001638), DEAFNESS(HP:0000404), VENTRICULAR FILLING ABNORMAL(HP:0006683), CONSTIPATION(HP:0002019), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DYSARTHRIA(HP:0001260), DIARRHEA(HP:0002014), SPASTICITY(HP:0001257), ORTHOSTATIC HYPOTENSION(HP:0001278), ONSET IN ADULTHOOD(HP:0003581), MILD PERIPHERAL NEUROPATHY MAY OCCUR(HP:0007088), GENERALIZED AMYLOID DEPOSITION(HP:0003216), SENSORIMOTOR POLYNEUROPATHY AFFECTING ARMS MORE THAN LEGS(HP:0006865), INCREASED CSF PROTEIN(HP:0002922), VITAMIN B6 DEFICIENCY(HP:0008326), FREQUENT VENOUS INSUFFICIENCY(HP:0005293), NYSTAGMUS(HP:0000639), TREMOR(HP:0001337), HEART BLOCK(HP:0001668), NEPHROTIC SYNDROME(HP:0000100), IMPAIRED VISION(HP:0000505), STROKE-LIKE EPISODES(HP:0002401), PURPURA(HP:0000979), ANGINA PECTORIS(HP:0001681), EUTHYROID HYPERTHYROXINEMIA(HP:0008247), AMYLOID DEPOSITION IN THE VITREOUS HUMOR(HP:0007841), LATE ONSET(HP:0003584), HYPOHIDROSIS(HP:0000966), AUTONOMIC DYSFUNCTION EARLY(HP:0007310), DEMENTIA(HP:0000726)]
7287	TULP1	[RETINITIS PIGMENTOSA(HP:0000510), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
7291	TWIST1	[SMALL EARS(HP:0000409), MALAR HYPOPLASIA(HP:0000272), BIFID TERMINAL PHALANGES DIGITS 2 AND 3(HP:0006196), PROMINENT EARS(HP:0000412), VARIABLE EXPRESSIVITY(HP:0003828), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TOE SYNDACTYLY(HP:0001770), BUPHTHALMOS(HP:0000557), DEAFNESS(HP:0000404), SCAPHOCEPHALY(HP:0000258), PLAGIOCEPHALY(HP:0001357), OYXCEPHALY(HP:0000263), BREAST CANCER(HP:0003002), DELAYED CLOSURE OF FONTANELLES(HP:0000270), DOLICHOCEPHALY(HP:0000268), CLEFT PALATE(HP:0000175), BEAKED NOSE(HP:0000444), HYPERTELORISM(HP:0000316), CRANIOSYNOSTOSIS OF CORONAL, LAMBDOID, AND/OR METOPIC SUTURES(HP:0005457), PLAGIOCEPHALY (ASYMMETRY OF ORBITS)(HP:0001121), CARDIAC MALFORMATION(HP:0002564), RADIOULNAR SYNOSTOSIS(HP:0002974), PARIETAL FORAMINA(HP:0002697), LOW FRONTAL HAIRLINE(HP:0000294), NARROW PALATE(HP:0000189), THIN, LONG, POINTED NOSE(HP:0005283), APLASIA OF THE 1ST METATARSAL(HP:0010104), ABNORMALITY OF THE LACRIMAL DUCT(HP:0000614), BRACHYDACTYLY(HP:0001156), HIGH FOREHEAD(HP:0000348), DECREASED BODY HEIGHT(HP:0004322), HYPOPLASIA OF THE MAXILLA(HP:0000327), FACIAL ASYMMETRY(HP:0000324), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), INCREASED INTRACRANIAL PRESSURE(HP:0002516), PTOSIS(HP:0000508), HALLUX VALGUS(HP:0001822), LOW-SET EARS(HP:0000369), ABNORMALITY OF THE PELVIS(HP:0002644), SHALLOW ORBITS(HP:0000586), BRACHYCEPHALY(HP:0000248), STRABISMUS(HP:0000486)]
7299	TYR	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), OPTIC NERVE DYSPLASIA(HP:0001093), DEAFNESS(HP:0000404), FOVEAL HYPOPLASIA(HP:0007750), ANIRIDIA(HP:0000526), HYPERMETROPIA(HP:0000540), VESTIBULAR HYPOFUNCTION(HP:0001756), ALBINISM(HP:0001022), PHOTOPHOBIA(HP:0000613), HYPOPIGMENTATION OF THE SKIN(HP:0001010), HAIR ABNORMALITY(HP:0001595), BLUE IRIDES(HP:0000635), NYSTAGMUS(HP:0000639), METABOLISM ABNORMALITY(HP:0001939), IMPAIRED VISION(HP:0000505), STRABISMUS(HP:0000486)]
7305	TYROBP	[ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), THIN CORPUS CALLOSUM(HP:0002319), APRAXIA(HP:0002186), URINARY INCONTINENCE(HP:0000020), CEREBRAL ATROPHY(HP:0002059), NEUROPATHOLOGIC EXAMINATION SHOWS SEVERE DEMYELINATION(HP:0006939), CAUDATE ATROPHY(HP:0002340), PRIMITIVE REFLEXES (PALMOMENTAL, SNOUT, GLABELLAR)(HP:0002476), SEIZURES(HP:0001250), SPASTICITY(HP:0001257), EEG ABNORMALITIES(HP:0002353), LEUKOENCEPHALOPATHY(HP:0002352), AXONAL LOSS(HP:0003447), ABNORMALITY OF THE HAND(HP:0001155), BASAL GANGLIA CALCIFICATION(HP:0002135), PERSONALITY CHANGES(HP:0000751), GAIT DISTURBANCE(HP:0001288), UPPER MOTOR NEURON ABNORMALITY(HP:0002127), BABINSKI SIGN(HP:0003487), LACK OF INSIGHT(HP:0000757), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), MYOCLONUS(HP:0001336), HYDROPS(HP:0000990), DEMENTIA, PRESENILE, PROGRESSIVE, BEGINNING AROUND AGE 30 YEARS(HP:0007150), INAPPROPRIATE BEHAVIOR(HP:0000719), AGGRESSIVE BEHAVIOR(HP:0000718), GLIOSIS(HP:0002171), EDEMA(HP:0000969), DISINHIBITION(HP:0000734), PATHOLOGIC FRACTURE(HP:0002756), FRONTAL LOBE DEMENTIA(HP:0000727)]
7306	TYRP1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PARTIAL ALBINISM(HP:0007443), STRABISMUS(HP:0000486), NYSTAGMUS(HP:0000639)]
7314	UBB	[CLEFT PALATE(HP:0000175), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
7317	UBA1	[INGUINAL HERNIA(HP:0000023), CRYPTORCHIDISM(HP:0000028), MUSCULAR HYPOTONIA(HP:0001252), MILD TO MODERATE IMPROVING CONTRACTURES(HP:0005189), MICROPENIS(HP:0000054), PROGRESSIVE LOSS OF ANTERIOR HORN CELLS(HP:0008312), RESPIRATORY INSUFFICIENCY(HP:0002093), ABNORMALITY OF THE THORAX(HP:0000765), X-LINKED INHERITANCE(HP:0001417), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), METABOLISM ABNORMALITY(HP:0001939), SCOLIOSIS(HP:0002650)]
7337	UBE3A	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MICROCEPHALY, POSTNATAL(HP:0005484), HYPERREFLEXIA(HP:0001347), OCCIPITAL PLAGIOCEPHALY(HP:0005469), ABSENT SPEECH(HP:0001617), MILD CORTICAL ATROPHY ON CT OR MRI(HP:0006823), BLOND HAIR(HP:0002214), MANDIBULAR PROGNATHIA(HP:0000303), MICROBRACHYCEPHALY(HP:0002258), HYPOPLASIA OF THE MAXILLA(HP:0000327), BLUE IRIDES(HP:0000635), NYSTAGMUS(HP:0000639), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), WIDELY SPACED TEETH(HP:0000687), CLUMSINESS(HP:0002312), CONSTIPATION(HP:0002019), MACROGLOSSIA(HP:0000158), FEEDING DIFFICULTIES(HP:0002022), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), EEG ABNORMALITIES(HP:0002353), PROGRESSIVE GAIT ATAXIA(HP:0007240), OBESITY(HP:0001513), MACROSTOMIA(HP:0000181), SLEEP-WAKE CYCLE DISTURBANCE(HP:0006979), PAROXYSMAL BURSTS OF LAUGHTER(HP:0000749), DELAYED MOTOR MILESTONES(HP:0002130), HYPOPIGMENTATION OF THE SKIN(HP:0001010), BROAD-BASED GAIT(HP:0002136), HYPERACTIVITY(HP:0000752), ISOLATED CASES(HP:0001420), SCOLIOSIS(HP:0002650), DEEP SET EYES(HP:0000490), STRABISMUS(HP:0000486)]
7345	UCHL1	[BRADYKINESIA(HP:0002067), HETEROGENEOUS(HP:0001425), PERSONALITY CHANGES(HP:0000751), HYPOSMIA(HP:0004409), PARKINSONISM(HP:0001300), RIGIDITY(HP:0002063), TREMOR(HP:0001337), DEPRESSION(HP:0000716), DYSARTHRIA(HP:0001260), MASK-LIKE FACIES(HP:0000298), SOFT VOICE(HP:0001621), DEMENTIA(HP:0000726), SHORT STEPPED SHUFFLING GAIT(HP:0007311)]
7369	UMOD	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), GOUTY ARTHRITIS(HP:0001368), HYPERURICEMIA(HP:0002149), RENAL FAILURE(HP:0000083), NEPHROPATHY(HP:0000112), JUVENILE ONSET(HP:0003621)]
7372	UMPS	[ANEMIA CORRECTED BY URIDYLIC ACID AND CYTIDYLIC ACID(HP:0003339), OROTIC ACID CRYSTALLURIA(HP:0003526), OROTICACIDURIA(HP:0003218), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MEGALOBLASTIC ANEMIA UNRESPONSIVE TO VITAMIN B12 AND FOLATE(HP:0004826), OROTIDINE-5-PRIME-PHOSPHATE DECARBOXYLASE DEFECT(HP:0003267), OROTIC ACID URINARY OBSTRUCTION(HP:0000810), PREDISPOSITION TO SEVERE INFECTIONS(HP:0002957), ABNORMALITY OF T-CELLS(HP:0002843)]
7374	UNG	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERACTIVITY(HP:0000752), RECURRENT UPPER AND LOWER RESPIRATORY TRACT INFECTIONS(HP:0002873), IMMUNODEFICIENCY(HP:0002721), LYMPHADENOPATHY(HP:0002716), IMPAIRED IG CLASS SWITCH RECOMBINATION (CSR)(HP:0002959), RECURRENT BACTERIAL INFECTIONS(HP:0002718), GENITOURINARY ABNORMALITY(HP:0000119), HYPERKINESIS(HP:0002487)]
7380	UPK3A	[HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RECEDING CHIN(HP:0002053), BICORNUATE UTERUS(HP:0000813), VAGINAL ATRESIA(HP:0000148), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), PRIMARY AMENORRHEA(HP:0000786), HYPERTELORISM(HP:0000316), PULMONARY HYPOPLASIA(HP:0002089), PROTEINURIA(HP:0000093), LOW-SET EARS(HP:0000369), RENAL AGENESIS(HP:0000104), RENAL DYSPLASIA/APLASIA(HP:0004721), OLIGOHYDRAMNIOS(HP:0001562)]
7381	UQCRB	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), DEAFNESS(HP:0000404), HIGHLY VARIABLE PHENOTYPE(HP:0003815), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), FEEDING DIFFICULTIES(HP:0002022), MITOCHONDRIAL ENCEPHALOPATHY(HP:0006789), EXERCISE INTOLERANCE(HP:0003546), CATARACT(HP:0000518), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), CHOLESTASIS(HP:0001396), EEG ABNORMALITIES(HP:0002353), FAILURE TO THRIVE(HP:0001508), DECREASED COMPLEX III ACTIVITY IN LIVER TISSUE(HP:0006558), CEREBELLAR ATROPHY(HP:0001272), MITOCHONDRIAL INHERITANCE(HP:0001427), HALLUCINATIONS(HP:0000738), ABNORMALITY OF THE URINARY TRACT(HP:0000079), RHABDOMYOLYSIS(HP:0003201), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), RAGGED-RED MUSCLE FIBERS(HP:0003200), DECREASED LIVER FUNCTION(HP:0001410), MICROVESICULAR STEATOSIS(HP:0001414), METABOLIC ACIDOSIS(HP:0001942), EMOTIONAL LABILITY(HP:0000712), HYPOGLYCEMIA(HP:0001943), RETINITIS PIGMENTOSA(HP:0000510), LACTIC ACIDEMIA(HP:0003128), DEPRESSION(HP:0000716), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), INCREASED SERUM LACTATE(HP:0002151), COAGULOPATHY(HP:0001925), AMINOACIDURIA(HP:0002903), MUSCLE WEAKNESS(HP:0001324)]
7384	UQCRC1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MITOCHONDRIAL MYOPATHY(HP:0003737)]
7389	UROD	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ALOPECIA(HP:0001596), INCREASED INCIDENCE OF HEPATOCELLULAR CARCINOMA(HP:0003007), PSEUDOSCLERODERMA(HP:0001594), SPORADIC(HP:0003745), PHOTOSENSITIVITY(HP:0000992), METABOLISM ABNORMALITY(HP:0001939), HYPERPIGMENTATION IN SUN-EXPOSED AREAS(HP:0005586), CIRRHOSIS(HP:0001394), FACIAL HYPERTRICHOSIS(HP:0002219)]
7390	UROS	[CONTRACTURES(HP:0001371), HYPERPIGMENTATION(HP:0000953), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CAMPTODACTYLY (HANDS)(HP:0010563), CORNEAL SCARRING(HP:0000559), ABNORMALITY OF THE MOUTH(HP:0000153), OSTEOPENIA(HP:0000938), VERTEBRAL COMPRESSION FRACTURES(HP:0002953), THROMBOCYTOPENIA(HP:0001873), HEMOLYTIC ANEMIA(HP:0001878), SPLENOMEGALY(HP:0001744), ONSET AT BIRTH(HP:0003577), HYPOPIGMENTATION OF THE SKIN(HP:0001010), DECREASED BODY HEIGHT(HP:0004322), ALOPECIA(HP:0001596), PSEUDOSCLERODERMA(HP:0001594), OSTEOLYSIS(HP:0002797), PHOTOSENSITIVITY(HP:0000992), HYPERTRICHOSIS(HP:0000998), ATYPICAL SCARRING(HP:0000987), CONJUNCTIVITIS(HP:0000509), BILIARY TRACT ABNORMALITY(HP:0001080), PATHOLOGIC FRACTURE(HP:0002756)]
7399	USH2A	[CONSTRICTED VISUAL FIELDS(HP:0001133), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PROGRESSIVE RETINITIS PIGMENTOSA(HP:0001127), NIGHT BLINDNESS(HP:0000662), HEARING LOSS, CONGENITAL, SENSORINEURAL, MODERATE-SEVERE(HP:0008612)]
7401	CLRN1	[VESTIBULAR DYSFUNCTION, VARIABLE(HP:0007921), RETINITIS PIGMENTOSA(HP:0000510), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), NIGHT BLINDNESS(HP:0000662), ABNORMALITY OF THE FACE(HP:0000271)]
7415	VCP	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROXIMAL MUSCLE WEAKNESS(HP:0003701), LIMB MUSCLE WEAKNESS(HP:0003690), SCAPULAR WINGING(HP:0003691), BACK PAIN(HP:0003418), DISTAL AMYOTROPHY(HP:0003693), DIFFICULTY CLIMBING STAIRS(HP:0003551), PELVIC GIRDLE WEAKNESS AND ATROPHY(HP:0008946), MYOPATHY(HP:0003198), RIMMED VACUOLES(HP:0003805), DIFFICULTY WALKING(HP:0002355), MRI SHOWS FRONTAL AND TEMPORAL CORTICAL ATROPHY(HP:0007112), SHOULDER WEAKNESS AND ATROPHY(HP:0009009), ELEVATED ALKALINE PHOSPHATASE OF BONE ORIGIN(HP:0010639), LUMBAR HYPERLORDOSIS(HP:0002938), ABNORMALITY OF THE PELVIS(HP:0002644), DYSTONIA(HP:0001332), EARLY ONSET(HP:0003593), INCREASED SERUM CREATINE KINASE(HP:0002147), FRONTOTEMPORAL DEMENTIA(HP:0002145)]
7421	VDR	[RICKETS(HP:0002748), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CURVATURES OF THE FEMUR, TIBIA, FIBULA(HP:0002976), BOWING OF THE LEGS(HP:0002979), SEIZURES DUE TO HYPOCALCEMIA(HP:0002199), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), DEFORMED RIB CAGE(HP:0000886), 'BULGING' OF THE COSTOCHONDRAL JUNCTION(HP:0000893), SECONDARY HYPERPARATHYROIDISM(HP:0000867), FRAYED, IRREGULAR METAPHYSES(HP:0003017), PROTUBERANT ABDOMEN DUE TO MUSCLE WEAKNESS(HP:0001546), ENLARGEMENT OF THE WRISTS(HP:0003020), PROTUBERANT ABDOMEN(HP:0001538), 'BULGING' EPIPHYSES(HP:0003013), THIN BONY CORTEX(HP:0002753), SPARSE BONE TRABECULAE(HP:0002752), RECURRENT FRACTURES(HP:0002757), ENLARGEMENT OF THE ANKLES(HP:0003029), ELEVATED SERUM PARATHYROID HORMONE (PTH) LEVEL(HP:0003165), DELAYED DENTITION(HP:0000684), DIFFICULTY STANDING(HP:0003698), INCREASED SERUM 1,25-DIHYDROXYVITAMIN D3(HP:0003152), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), ENLARGED EPIPHYSES(HP:0010580), OSTEOPOROSIS(HP:0000939), MUSCULAR HYPOTONIA(HP:0001252), FRONTAL BOSSING(HP:0002007), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), DIFFICULTY WALKING(HP:0002355), CARIOUS TEETH(HP:0000670), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), IRRITABILITY(HP:0000737), LATE OSSIFYING EPIPHYSES(HP:0002663), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), BONE PAIN(HP:0002653), ONSET WITHIN FIRST 6 MONTHS OF LIFE(HP:0003600), HYPOPHOSPHATEMIA(HP:0002148), HYPOCALCEMIA(HP:0002901), SUBPERIOSTEAL EROSIONS DUE TO SECONDARY HYPERPARATHYROIDISM(HP:0003106), ALOPECIA, COMPLETE, IN MAJORITY OF PATIENTS(HP:0004550), POSTERIOR FLATTENING OF THE SKULL(HP:0000247)]
7428	VHL	[HYPOTENSION(HP:0002615), CAFE-AU-LAIT SPOTS(HP:0000957), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), HEADACHE(HP:0002315), HYPERTENSIVE RETINOPATHY(HP:0001095), VARICOSE VEINS(HP:0002619), INCREASED RED BLOOD CELL MASS(HP:0001898), INCREASED HEMATOCRIT(HP:0001899), INCREASED HEMOGLOBIN(HP:0001900), PULMONARY CAPILLARY HEMANGIOMATOSIS(HP:0005954), TACHYCARDIA(HP:0001649), CEREBROVASCULAR ACCIDENT(HP:0002452), CONGENITAL CATARACT(HP:0000519), PANCREATIC CYSTS(HP:0001737), ABNORMALITY OF THE LIVER(HP:0001392), POSITIVE REGITINE TEST(HP:0003574), MULTIPLE RENAL CYSTS(HP:0005562), PLETHORA(HP:0001050), PHEOCHROMOCYTOMA(HP:0002666), PROTEINURIA(HP:0000093), HYPERCALCEMIA(HP:0003072), ELEVATED URINARY NOREPINEPHRINE(HP:0003345), EPISODIC HYPERTENSION(HP:0000875), PERIPHERAL THROMBOSIS(HP:0002641), PAPILLARY CYSTADENOMA OF THE EPIDIDYMIS(HP:0009715), SPINAL HEMANGIOBLASTOMA(HP:0009713), CEREBRAL HEMORRHAGE(HP:0001342), MULTIPLE TUMORS(HP:0003008), NEOPLASIA OF THE PANCREAS(HP:0002894), HYPERHIDROSIS(HP:0000975), EARLY ONSET(HP:0003593), RENAL ARTERY STENOSIS(HP:0001920), RETINAL HEMANGIOBLASTOMA(HP:0009711), CEREBELLAR HEMANGIOBLASTOMA(HP:0006880), HEMANGIOBLASTOMA, SPORADIC CEREBELLAR(HP:0006761), PAPILLARY RENAL CELL CARCINOMA(HP:0006766)]
7436	VLDLR	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED BODY HEIGHT(HP:0004322), BROAD-BASED GAIT(HP:0002136), HYPERREFLEXIA(HP:0001347), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), METABOLISM ABNORMALITY(HP:0001939), STRABISMUS(HP:0000486), CEREBELLAR ATROPHY(HP:0001272)]
7439	BEST1	[ABNORMAL COLOR VISION(HP:0000551), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CHORIORETINAL HYPOPIGMENTATION AND HYPERPIGMENTATION(HP:0007661), VITREOUS HEMORRHAGE(HP:0007902), MACULAR DYSTROPHY(HP:0007754), CYSTOID MACULAR DEGENERATION(HP:0008028), NYSTAGMUS(HP:0000639), PRESENILE CATARACTS(HP:0007819), MICROPHTHALMOS(HP:0000568), FISHNET RETINAL PIGMENTATION(HP:0007801), DECREASED ELECTRORETINOGRAM (ERG)(HP:0000654), PIGMENTARY RETINOPATHY(HP:0000580), IMPAIRED VISION(HP:0000505), METABOLISM ABNORMALITY(HP:0001939), GLAUCOMA(HP:0000501), DETACHED RETINA(HP:0000541), NIGHT BLINDNESS(HP:0000662), STRABISMUS(HP:0000486), RETINAL ARTERIOLAR NARROWING AND OCCLUSION(HP:0007985), MICROCORNEA(HP:0000482)]
7443	VRK1	[PONTOCEREBELLAR HYPOPLASIA(HP:0007053), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), WEAKNESS(HP:0002309), CONGENITAL CONTRACTURES(HP:0002803), DEGENERATION OF ANTERIOR HORN CELLS(HP:0002398), HYPOPLASIA OF THE VENTRAL PONS(HP:0006850), EMG SHOWS NEUROGENIC ABNORMALITIES(HP:0002178), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), NEURONAL LOSS(HP:0002400), GLIOSIS(HP:0002171), ONSET AT BIRTH(HP:0003577), RESPIRATORY INSUFFICIENCY(HP:0002093)]
7450	VWF	[HYPOKINESIA(HP:0002375), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MITRAL VALVE PROLAPSE(HP:0001634), GASTROINTESTINAL ANGIODYSPLASIA(HP:0000471), PROLONGED WHOLE-BLOOD CLOTTING TIME IN SEVERE HEMOPHILIA(HP:0003229), MENORRHAGIA(HP:0000132), ABNORMAL PLATELET AGGREGATION(HP:0003540), BLEEDING DIATHESIS(HP:0001892), GASTROINTESTINAL HEMORRHAGE(HP:0002239), ECCHYMOSES(HP:0000978), PROLONGED BLEEDING TIME(HP:0003010), THROMBOCYTOPENIA(HP:0001873), HEMARTHROSES(HP:0001391), PERSISTENT BLEEDING AFTER TRAUMA(HP:0001934), EPISTAXIS(HP:0000421)]
7454	WAS	[CONGENITAL THROMBOCYTOPENIA(HP:0001905), LYMPHOPENIA(HP:0001888), IRON DEFICIENCY ANEMIA(HP:0001891), ELEVATED ERYTHROCYTE SEDIMENTATION RATE(HP:0003565), HEMOLYTIC ANEMIA(HP:0001878), HEMARTHROSES(HP:0001391), ABSENT MICROVILLI ON THE SURFACE OF PERIPHERAL BLOOD LYMPHOCYTES(HP:0002971), ABNORMAL DELAYED HYPERSENSITIVITY SKIN TEST(HP:0002963), MELENA(HP:0002249), HEMATEMESIS(HP:0002248), MENINGITIS(HP:0001287), INCREASED IGE LEVEL(HP:0003212), RECURRENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0002788), RECURRENT LOWER RESPIRATORY TRACT INFECTIONS(HP:0002783), ABNORMALITY OF MUSCULATURE(HP:0003011), PROLONGED BLEEDING TIME(HP:0003010), RECURRENT MAJOR BACTERIAL INFECTIONS(HP:0005393), INCREASED IGA LEVEL(HP:0003261), NEPHROPATHY(HP:0000112), MODERATELY DEPRESSED ANTIBODY RESPONSE TO POLYSACCHARIDE ANTIGENS(HP:0002848), INFLAMMATORY BOWEL DISEASE(HP:0002037), DECREASED IGM LEVEL(HP:0003147), OTITIS MEDIA(HP:0000388), ORAL BLEEDING(HP:0000167), DIARRHEA(HP:0002014), PNEUMONIA(HP:0002090), EPISTAXIS(HP:0000421), CD43 (SIALOPHORIN) DEFECTIVELY EXPRESSED ON SURFACE OF BLOOD CELLS(HP:0001983), DECREASED MEAN PLATELET VOLUME(HP:0005537), X-LINKED RECESSIVE INHERITANCE(HP:0001419), SMALL AND LARGE VESSEL VASCULITIS(HP:0005310), SEVERE CONGENITAL NEUTROPENIA(HP:0005549), DEPRESSION(HP:0000716), ECCHYMOSES(HP:0000978), PURPURA(HP:0000979), SINUSITIS(HP:0000246), PETECHIAE(HP:0000967), INTERMITTENT THROMBOCYTOPENIA(HP:0004854), ECZEMA(HP:0000964)]
7466	WFS1	[HYPOTHYROIDISM(HP:0000821), DIABETES MELLITUS(HP:0000819), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), NEUROGENIC BLADDER(HP:0000011), CARDIOMYOPATHY(HP:0001638), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), MEGALOBLASTIC ANEMIA(HP:0001889), CEREBRAL ATROPHY(HP:0002059), TESTICULAR ATROPHY(HP:0000029), ATAXIA(HP:0001251), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), THROMBOCYTOPENIA(HP:0001873), PROGRESSIVE, LOW-FREQUENCY SENSORINEURAL HEARING LOSS(HP:0008573), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), GROWTH RETARDATION(HP:0001510), PSYCHIATRIC DISORDERS(HP:0002368), HYDROURETER(HP:0000072), DIABETES INSIPIDUS(HP:0000873), NYSTAGMUS(HP:0000639), PTOSIS(HP:0000508), TREMOR(HP:0001337), PIGMENTARY RETINOPATHY(HP:0000580), STROKE-LIKE EPISODES(HP:0002401), SIDEROBLASTIC ANEMIA(HP:0001924), HYDRONEPHROSIS(HP:0000126), LIMITED MOBILITY OF PROXIMAL INTERPHALANGEAL JOINT(HP:0006217)]
7467	WHCR	[DELAYED SKELETAL MATURATION(HP:0002750), RIEGER ANOMALY(HP:0000558), CRYPTORCHIDISM(HP:0000028), DOWNTURNED CORNERS OF MOUTH(HP:0002714), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), KYPHOSIS(HP:0002808), IRIS COLOBOMA(HP:0000612), PREAURICULAR SINUS(HP:0004467), STERNAL OSSIFICATION CENTER ABNORMALITIES(HP:0006624), NYSTAGMUS(HP:0000639), HIGHLY ARCHED EYEBROWS(HP:0001584), BILIARY TRACT ABNORMALITY(HP:0001080), DECREASED FETAL ACTIVITY(HP:0001559), TALIPES EQUINOVARUS(HP:0001762), PROMINENT GLABELLA(HP:0002057), ABSENT UTERUS(HP:0000151), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), HYPODONTIA(HP:0000668), ACCESSORY SPLEEN(HP:0001747), SHORT UPPER LIP(HP:0000188), CLEFT LIP(HP:0000204), MICROGNATHIA(HP:0000210), HYDROCEPHALUS(HP:0000238), LOW POSTERIOR HAIRLINE(HP:0002162), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), EPICANTHUS(HP:0000286), PRECOCIOUS PUBERTY(HP:0000826), CRANIAL ASYMMETRY(HP:0000267), VERTEBRAL FUSION(HP:0002948), HYPERTELORISM(HP:0000316), RADIOULNAR SYNOSTOSIS(HP:0002974), HIGH FOREHEAD(HP:0000348), METATARSUS VARUS(HP:0001840), SHORT PHILTRUM(HP:0000322), POLYDACTYLY (FEET)(HP:0001829), ABSENT SEPTUM PELLUCIDUM(HP:0001331), HYPERCONVEX FINGERNAILS(HP:0001812), HEARING LOSS(HP:0000365), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), TRANSVERSE PALMAR CREASES(HP:0000954), STENOTIC EXTERNAL AUDITORY CANAL(HP:0000402), PSEUDOEPIPHYSES OF THE METACARPALS(HP:0009193), GASTROESOPHAGEAL REFLUX(HP:0002020), PREAURICULAR SKIN TAG(HP:0000384), BEAKED NOSE(HP:0000444), SEVERE GROWTH RETARDATION(HP:0001521), DISLOCATED HIPS(HP:0002827), FAILURE TO THRIVE(HP:0001508), MALROTATION OF SMALL BOWEL(HP:0004794), BROAD NASAL BRIDGE(HP:0000431), RIB FUSION(HP:0000902), LOW BIRTH WEIGHT(HP:0001518), WEBBED NECK(HP:0000465), CAVUM SEPTUM PELLUCIDUM(HP:0002389), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), METABOLISM ABNORMALITY(HP:0001939), SACRAL DIMPLE(HP:0000960), STRABISMUS(HP:0000486)]
7468	WHSC1	[DELAYED SKELETAL MATURATION(HP:0002750), RIEGER ANOMALY(HP:0000558), CRYPTORCHIDISM(HP:0000028), DOWNTURNED CORNERS OF MOUTH(HP:0002714), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), KYPHOSIS(HP:0002808), IRIS COLOBOMA(HP:0000612), PREAURICULAR SINUS(HP:0004467), STERNAL OSSIFICATION CENTER ABNORMALITIES(HP:0006624), NYSTAGMUS(HP:0000639), HIGHLY ARCHED EYEBROWS(HP:0001584), BILIARY TRACT ABNORMALITY(HP:0001080), DECREASED FETAL ACTIVITY(HP:0001559), TALIPES EQUINOVARUS(HP:0001762), PROMINENT GLABELLA(HP:0002057), ABSENT UTERUS(HP:0000151), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), HYPODONTIA(HP:0000668), ACCESSORY SPLEEN(HP:0001747), SHORT UPPER LIP(HP:0000188), CLEFT LIP(HP:0000204), MICROGNATHIA(HP:0000210), HYDROCEPHALUS(HP:0000238), LOW POSTERIOR HAIRLINE(HP:0002162), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), EPICANTHUS(HP:0000286), PRECOCIOUS PUBERTY(HP:0000826), CRANIAL ASYMMETRY(HP:0000267), VERTEBRAL FUSION(HP:0002948), HYPERTELORISM(HP:0000316), RADIOULNAR SYNOSTOSIS(HP:0002974), HIGH FOREHEAD(HP:0000348), METATARSUS VARUS(HP:0001840), SHORT PHILTRUM(HP:0000322), POLYDACTYLY (FEET)(HP:0001829), ABSENT SEPTUM PELLUCIDUM(HP:0001331), HYPERCONVEX FINGERNAILS(HP:0001812), HEARING LOSS(HP:0000365), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), TRANSVERSE PALMAR CREASES(HP:0000954), STENOTIC EXTERNAL AUDITORY CANAL(HP:0000402), PSEUDOEPIPHYSES OF THE METACARPALS(HP:0009193), GASTROESOPHAGEAL REFLUX(HP:0002020), PREAURICULAR SKIN TAG(HP:0000384), BEAKED NOSE(HP:0000444), SEVERE GROWTH RETARDATION(HP:0001521), DISLOCATED HIPS(HP:0002827), FAILURE TO THRIVE(HP:0001508), MALROTATION OF SMALL BOWEL(HP:0004794), BROAD NASAL BRIDGE(HP:0000431), RIB FUSION(HP:0000902), LOW BIRTH WEIGHT(HP:0001518), WEBBED NECK(HP:0000465), CAVUM SEPTUM PELLUCIDUM(HP:0002389), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), METABOLISM ABNORMALITY(HP:0001939), SACRAL DIMPLE(HP:0000960), STRABISMUS(HP:0000486)]
7473	WNT3	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ENDOCRINE ABNORMALITY(HP:0000818), ANAL ATRESIA(HP:0002023), VAGINAL ATRESIA(HP:0000148), MICROPHTHALMOS(HP:0000568), PERIPHERAL PULMONARY VESSEL APLASIA(HP:0005316), CATARACT(HP:0000518), CLEFT PALATE(HP:0000175), ABSENT EXTERNAL GENITALIA(HP:0000042), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), ABNORMALITY OF THE SPLEEN(HP:0001743), ABNORMALITY OF THE DIAPHRAGM(HP:0000775), PULMONARY HYPOPLASIA(HP:0002089), URETHRAL ATRESIA(HP:0000068), CLEFT LIP(HP:0000204), TETRAAMELIA(HP:0003057), CHOANAL ATRESIA(HP:0000453), MICROGNATHIA(HP:0000210), HYDROCEPHALUS(HP:0000238), LOW-SET EARS(HP:0000369), ABNORMALITY OF THE PELVIS(HP:0002644), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), SINGLE UMBILICAL ARTERY(HP:0001195), GASTROSCHISIS(HP:0001543), RENAL AGENESIS(HP:0000104)]
7476	WNT7A	[CONGENITAL HIP DISLOCATION(HP:0001374), FIBULAR APLASIA(HP:0002990), HYPOPLASTIC FEET(HP:0008135), HYPOPLASIA OF THE RADIUS(HP:0002984), ELBOW CONTRACTURES(HP:0002987), LONG FACE(HP:0000276), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RADIAL BOWING(HP:0002986), FEMORAL BOWING(HP:0002980), APLASIA/HYPOPLASIA OF THE PHALANGES OF THE HAND(HP:0009767), OCCIPITAL MENINGOCELE(HP:0002436), CRYPTORCHIDISM(HP:0000028), SCROTAL HYPOPLASIA(HP:0000046), BROAD RIBS(HP:0000885), APLASIA/HYPOPLASIA INVOLVING THE METACARPAL BONES(HP:0005914), OLIGODACTYLY (FEET)(HP:0001849), PROMINENT STERNUM(HP:0000884), PHOCOMELIA(HP:0009829), ELBOW ANKYLOSIS(HP:0003070), ANTERIORLY DISPLACED GENITALIA(HP:0003252), ABSENT OSSIFICATION/ABSENT ULNA(HP:0003982), SHORT STATURE, DISPROPORTIONATE(HP:0003498), BARREL-SHAPED CHEST(HP:0001552), TALIPES EQUINOVARUS(HP:0001762), FINGER SYNDACTYLY(HP:0006101), HUMERAL RADIAL SYNOSTOSIS(HP:0003936), TOE SYNDACTYLY(HP:0001770), PATELLAR APLASIA(HP:0006443), APLASIA/HYPOPLASIA OF THE PHALANGES OF THE TOES(HP:0010173), HYPOPLASTIC ILIAC WINGS(HP:0002866), APLASIA/HYPOPLASIA OF THE FEMUR(HP:0005613), ABSENT UTERUS(HP:0000151), BROAD CLAVICLES(HP:0000916), ABNORMAL FINGER FLEXION CREASES(HP:0006143), APLASIA/HYPOPLASIA OF THE 5TH FINGER(HP:0006262), APLASIA/HYPOPLASIA INVOLVING THE CARPAL BONES(HP:0006502), BROAD NECK(HP:0000475), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), ECTRODACTYLY (HANDS)(HP:0001171), APLASIA/HYPOPLASIA OF METATARSAL BONES(HP:0001964), OLIGODACTYLY (HANDS)(HP:0001180), APLASIA/HYPOPLASIA OF THE TARSAL BONES(HP:0008363), HYPOPLASTIC/APLASTIC PUBIC BONES(HP:0008841), HYPOPLASTIC PELVIS(HP:0008839), ULNAR DEVIATION OF FINGERS(HP:0009465)]
7480	WNT10B	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ECTRODACTYLY (FEET)(HP:0001839), ECTRODACTYLY (HANDS)(HP:0001171), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
7486	WRN	[RETINAL DEGENERATION(HP:0000546), DIABETES MELLITUS(HP:0000819), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED BODY HEIGHT(HP:0004322), HYPOGONADISM(HP:0000135), PREMATURE ARTERIOSCLEROSIS(HP:0005177), HAIR ABNORMALITY(HP:0001595), OSTEOPOROSIS(HP:0000939), OSTEOGENIC SARCOMA(HP:0002669), CATARACT(HP:0000518), BEAKED NOSE(HP:0000444), SUBCUTANEOUS CALCIFICATION(HP:0007618)]
7490	WT1	[HYPERTENSION(HP:0000822), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), GONADOBLASTOMA, FEMALE(HP:0000149), NEPHROTIC SYNDROME(HP:0000100), GONADAL TISSUE INAPPROPRIATE FOR EXTERNAL GENITALIA OR CHROMOSOMAL SEX(HP:0003248), AMBIGUOUS GENITALIA, MALE(HP:0000033), PRIMARY AMENORRHEA(HP:0000786), FOCAL SEGMENTAL GLOMERULOSCLEROSIS(HP:0000097), MALE PSEUDOHERMAPHRODITISM(HP:0000037), EARLY ONSET(HP:0003593), CHRONIC/ENDSTAGE RENAL FAILURE(HP:0004725), NEPHROPATHY(HP:0000112), PURE GONADAL DYSGENESIS(HP:0003243), TESTICULAR AND OVARIAN TISSUE PRESENT(HP:0003242), DIFFUSE MESANGIAL SCLEROSIS GLOMERULOPATHY(HP:0004728), AMBIGUOUS GENITALIA, FEMALE(HP:0000061), DIAPHRAGMATIC HERNIA(HP:0000776)]
7491	WT2	[SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667)]
7498	XDH	[MYOPATHY(HP:0003198), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), URINARY XANTHINE STONES(HP:0000804), HYDRONEPHROSIS(HP:0000126)]
7507	XPA	[XERODERMA PIGMENTOSUM(HP:0007415), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), FRECKLING(HP:0001480), ATAXIA(HP:0001251), SPASTICITY(HP:0001257), MENTAL DETERIORATION(HP:0001268), CHOREOATHETOSIS(HP:0001266), HYPOREFLEXIA(HP:0001265), ECTROPION(HP:0000656), DERMAL ATROPHY(HP:0004334), PHOTOPHOBIA(HP:0000613), TELANGIECTASIA(HP:0001009), POIKILODERMA(HP:0001029), ENTROPION(HP:0000621), PHOTOSENSITIVITY(HP:0000992), LOW INTELLIGENCE(HP:0001286), DEFECTIVE DNA REPAIR AFTER ULTRAVIOLET RADIATION DAMAGE(HP:0003079), CONJUNCTIVITIS(HP:0000509), MICROCEPHALY(HP:0000252), EARLY ONSET(HP:0003593), KERATITIS(HP:0000491)]
7508	XPC	[XERODERMA PIGMENTOSUM(HP:0007415), DERMAL ATROPHY(HP:0004334), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PHOTOPHOBIA(HP:0000613), TELANGIECTASIA(HP:0001009), POIKILODERMA(HP:0001029), ENTROPION(HP:0000621), PHOTOSENSITIVITY(HP:0000992), FRECKLING(HP:0001480), DEFECTIVE DNA REPAIR AFTER ULTRAVIOLET RADIATION DAMAGE(HP:0003079), CONJUNCTIVITIS(HP:0000509), ESPECIALLY PRONE TO MALIGNANT MELANOMA(HP:0006777), EARLY ONSET(HP:0003593), KERATITIS(HP:0000491), ECTROPION(HP:0000656)]
7535	ZAP70	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SEVERE COMBINED IMMUNODEFICIENCY(HP:0004430)]
7543	ZFX	[X-LINKED INHERITANCE(HP:0001417)]
7544	ZFY	[METABOLISM ABNORMALITY(HP:0001939)]
7545	ZIC1	[HETEROGENEOUS(HP:0001425), ENLARGED FOURTH VENTRICLE(HP:0002198), TRUNCAL ATAXIA(HP:0002078), POSTERIOR FOSSA CYST AT THE FOURTH VENTRICLE(HP:0000933), NYSTAGMUS(HP:0000639), THINNING AND BULGING OF THE POSTERIOR FOSSA BONES(HP:0000931), ELEVATED IMPRINT OF THE TRANSVERSE SINUSES(HP:0000930), HYDROCEPHALUS(HP:0000238), PARTIAL OR COMPLETE ABSENCE OF CEREBELLAR VERMIS(HP:0002951), CRANIAL NERVE PARALYSIS(HP:0006824)]
7547	ZIC3	[PULMONIC STENOSIS(HP:0001642), PATENT DUCTUS ARTERIOSUS(HP:0001643), ABDOMINAL SITUS INVERSUS(HP:0003363), ASPLENIA(HP:0001746), VENTRICULAR SEPTAL DEFECT(HP:0001629), DEXTROCARDIA(HP:0001651), X-LINKED INHERITANCE(HP:0001417)]
7555	CNBP	[CATARACTS, POSTERIOR, SUBCAPSULAR, IRIDESCENT(HP:0007889), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE SKIN(HP:0000951), HYPOGONADISM(HP:0000135), PROXIMAL MUSCLE WEAKNESS(HP:0003701), TACHYCARDIA(HP:0001649), AGE OF ONSET(HP:0003674), TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554), MYALGIA(HP:0003326), OLIGOSPERMIA(HP:0000798), INSULIN INSENSITIVITY(HP:0008189), MYOTONIA(HP:0002486), INCREASED CREATINE KINASE(HP:0003078), DECREASED SERUM IGG(HP:0008340), PALPITATIONS(HP:0001962), ELEVATED FOLLICLE STIMULATING HORMONE(HP:0008232), FRONTAL BALDING (MALE PATTERN BALDNESS)(HP:0002292), DYSTONIA(HP:0001332), NECK FLEXOR WEAKNESS(HP:0003722)]
7584	ZNF35	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
7592	ZNF41	[X-LINKED INHERITANCE(HP:0001417)]
7704	ZBTB16	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
7809	BSND	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERALDOSTERONISM(HP:0005975), HEARING LOSS, SENSORINEURAL(HP:0000407), GLOBAL GLOMERULOSCLEROSIS(HP:0004737), HYDROPS FETALIS(HP:0001789), MUSCULAR HYPOTONIA(HP:0001252), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), LOSS OF DEFINITION OF CORTICOMEDULLARY DIFFERENTIATION(HP:0005573), ONSET IN UTERO(HP:0003660), HYPOREFLEXIA(HP:0001265), HYPOKALEMIC HYPOCHLOREMIC METABOLIC ALKALOSIS(HP:0004909), PREMATURE BIRTH(HP:0001622), INCREASED URINARY CHLORIDE(HP:0002914), HETEROGENEOUS(HP:0001425), INCREASED URINARY POTASSIUM(HP:0003081), RENAL FAILURE(HP:0000083), POLYURIA(HP:0000103), INCREASED URINARY SODIUM(HP:0003608), RENAL BIOPSY SHOWS TUBULOINTERSTITIAL FIBROSIS(HP:0004714), HYPOCHLOREMIA(HP:0003113), POLYHYDRAMNIOS(HP:0001561), HYPONATREMIA(HP:0002902), FETAL POLYURIA(HP:0001563), HYPOKALEMIA(HP:0002900), RENAL SALT WASTING(HP:0000127)]
7827	NPHS2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), END STAGE RENAL DISEASE(HP:0003774), PROTEINURIA(HP:0000093), HYPOALBUMINEMIA(HP:0003073), HYPERLIPIDEMIA(HP:0003077), CHRONIC RENAL FAILURE(HP:0000101), IDIOPATHIC NEPHROTIC SYNDROME(HP:0008727), EDEMA(HP:0000969), ONSET IN EARLY CHILDHOOD(HP:0003580)]
7840	ALMS1	[HYPOTHYROIDISM(HP:0000821), CONE-ROD DYSTROPHY(HP:0000548), HYPERTENSION(HP:0000822), DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), INSULIN-RESISTANT DIABETES MELLITUS(HP:0000831), GROWTH HORMONE DEFICIENCY(HP:0000824), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), HEPATIC STEATOSIS(HP:0001397), SUBCAPSULAR CATARACTS(HP:0000523), GYNECOMASTIA(HP:0000771), MULTINODULAR GOITER(HP:0005987), KYPHOSIS(HP:0002808), PHOTOPHOBIA(HP:0000613), BLINDNESS(HP:0000618), ALOPECIA(HP:0001596), RENAL FAILURE(HP:0000083), DIABETES INSIPIDUS(HP:0000873), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), HYPEROSTOSIS FRONTALIS INTERNA(HP:0004438), PIGMENTARY RETINOPATHY(HP:0000580), MENSTRUAL IRREGULARITIES(HP:0000858), DECREASED HDL CHOLESTEROL(HP:0003233), HYPERINSULINEMIA(HP:0000842), NEPHRITIS(HP:0000123), ACANTHOSIS NIGRICANS(HP:0000956), PES PLANUS(HP:0001763), HEARING LOSS, SENSORINEURAL, PROGRESSIVE(HP:0000408), ACCELERATED SKELETAL MATURATION(HP:0005616), ATHEROSCLEROSIS(HP:0002621), OTITIS MEDIA(HP:0000388), ASTHMA(HP:0002099), DEVELOPMENTAL RETARDATION(HP:0001263), ABNORMALITY OF THE TEETH(HP:0000164), RECURRENT PNEUMONIA(HP:0002095), ABNORMALITY OF THE HAND(HP:0001155), DECREASED BODY HEIGHT(HP:0004322), TRUNCAL OBESITY(HP:0001956), GINGIVITIS(HP:0000230), SCOLIOSIS(HP:0002650), HYPERURICEMIA(HP:0002149), HYPERTRIGLYCERIDEMIA(HP:0002155), ELEVATED TRANSAMINASES(HP:0002910)]
7841	MOGS	[RETROGNATHIA(HP:0000278), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HIGH-ARCHED PALATE(HP:0000156), FEEDING DIFFICULTIES(HP:0002022), PROMINENT OCCIPUT(HP:0000269), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), BROAD NOSE(HP:0000445), LONG EYELASHES(HP:0000527), HYPOVENTILATION(HP:0002791), HEPATOMEGALY(HP:0002240), THORACIC SCOLIOSIS(HP:0002943), METABOLISM ABNORMALITY(HP:0001939), BLEPHAROPHIMOSIS(HP:0000581), CLENCHED HANDS(HP:0001188)]
7846	TUBA1A	[SPASTIC TETRAPLEGIA(HP:0002510), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PACHYGYRIA(HP:0001302), VENTRICULOMEGALY(HP:0002119), LISSENCEPHALY(HP:0001339), SEIZURES(HP:0001250), MOTOR RETARDATION(HP:0001270), CEREBELLAR VERMIS HYPOPLASIA(HP:0001320), MICROCEPHALY(HP:0000252), AGENESIS OF CORPUS CALLOSUM(HP:0001274), HYPOPLASIA OF THE BRAINSTEM(HP:0002365), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
7849	PAX8	[DELAYED SKELETAL MATURATION(HP:0002750), DRY SKIN(HP:0000958), HYPOTHERMIA(HP:0002045), CONSTIPATION(HP:0002019), ABDOMINAL DISTENTION(HP:0003270), BRADYCARDIA(HP:0001662), MACROGLOSSIA(HP:0000158), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), HOARSE CRY(HP:0001615), LARGE POSTERIOR FONTANELLE(HP:0004491), GROWTH RETARDATION(HP:0001510), HYPOPLASTIC THYROID(HP:0005990), LOW T4(HP:0003222), INCREASED SERUM THYROID-STIMULATING HORMONE (TSH)(HP:0002925), GOITER(HP:0000853), UMBILICAL HERNIA(HP:0001537)]
7852	CXCR4	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE SKIN(HP:0000951), RECURRENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0002788), PERIPHERAL NEUTROPENIA(HP:0005533), GENITOURINARY ABNORMALITY(HP:0000119), DECREASED IGG LEVEL(HP:0004315), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579)]
7873	MANF	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA OF THE PANCREAS(HP:0002894)]
7879	RAB7A	[PES PLANUS(HP:0001763), PES CAVUS(HP:0001761), HAMMER TOES(HP:0001765), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOAMPUTATION(HP:0001218), ABNORMALITY OF THE SKIN(HP:0000951), DISTAL AMYOTROPHY(HP:0003693), NORMAL OR MILDLY DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003437), MARKED DISTAL SENSORY IMPAIRMENT(HP:0006845), AGE OF ONSET(HP:0003674), OSTEOMYELITIS OR NECROSIS, DISTAL, DUE TO SENSORY NEUROPATHY (FEET)(HP:0001886), AUTOAMPUTATION (FEET)(HP:0001868), HYPOREFLEXIA(HP:0001265), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), AREFLEXIA(HP:0001284), DYSTROPHIC TOENAILS(HP:0001810), DECREASED NUMBER OF MYELINATED FIBERS MAY BE FOUND(HP:0003385), AXONAL ATROPHY ON NERVE BIOPSY(HP:0003384), SMALL 'ONION BULBS' MAY BE PRESENT(HP:0003389), FOOT DROP(HP:0003377), 'STEPPAGE' GAIT(HP:0003376), OSTEOMYELITIS(HP:0002754), AXONAL DEGENERATION/REGENERATION ON NERVE BIOPSY(HP:0003378)]
7915	ALDH5A1	[GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MENTAL RETARDATION, MILD TO SEVERE(HP:0002458), HIGHLY VARIABLE PHENOTYPE(HP:0003815), LANGUAGE DELAY(HP:0002336), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), EEG ABNORMALITIES(HP:0002353), HYPOREFLEXIA(HP:0001265), HYPERKINESIS(HP:0002487), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), STATUS EPILEPTICUS(HP:0002133), HYPOKINESIA(HP:0002375), ANXIETY(HP:0000739), HALLUCINATIONS(HP:0000738), INCREASED BODY WEIGHT(HP:0004324), HYPERACTIVITY(HP:0000752), ABSENCE SEIZURES(HP:0002121), MYOCLONIC SEIZURES(HP:0002123), AUTISM(HP:0000717), METABOLISM ABNORMALITY(HP:0001939), AGGRESSIVE BEHAVIOR(HP:0000718), PSYCHOSIS(HP:0000709), ABNORMALITY OF EYE MOVEMENT(HP:0000496)]
7928	ISCW	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715)]
7952	TNDM	[SEVERE FAILURE TO THRIVE(HP:0001525), DEHYDRATION(HP:0001944), INTRAUTERINE GROWTH RETARDATION(HP:0001511), HYPERGLYCEMIA(HP:0003074), TRANSIENT NEONATAL DIABETES MELLITUS(HP:0008255)]
7957	EPM2A	[GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOCLONIC EPILEPSY, PROGRESSIVE(HP:0006869), GAIT DISTURBANCE(HP:0001288), APRAXIA(HP:0002186), PHOTOSENSITIVITY(HP:0000992), VISUAL LOSS(HP:0000572), ABSENCE SEIZURES(HP:0002121), MYOCLONUS(HP:0001336), METABOLISM ABNORMALITY(HP:0001939), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), HEPATIC FAILURE(HP:0001399), PSYCHOSIS(HP:0000709), SIMPLE PARTIAL OCCIPITAL SEIZURES(HP:0007175), VISUAL HALLUCINATIONS(HP:0002367), DEMENTIA(HP:0000726)]
7979	SHFM1	[ECTRODACTYLY (FEET)(HP:0001839), ECTRODACTYLY (HANDS)(HP:0001171), MONODACTYLY(HP:0004058)]
8021	NUP214	[FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
8022	LHX3	[GONADOTROPIN DEFICIENCY(HP:0008192), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), HYPOPITUITARISM(HP:0000830), GROWTH HORMONE DEFICIENCY(HP:0000824), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), GROWTH ABNORMALITY(HP:0001507)]
8028	MLLT10	[FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
8029	CUBN	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PARESTHESIA(HP:0003401), SENSORY IMPAIRMENT(HP:0003474), CONFUSION(HP:0001289), PROTEINURIA(HP:0000093), MALABSORPTION(HP:0002024), IMMUNOLOGICAL ABNORMALITY(HP:0002715), MEGALOBLASTIC ANEMIA, CHRONIC, RELAPSING(HP:0004858), EARLY ONSET(HP:0003593), DEMENTIA(HP:0000726)]
8030	CCDC6	[AGE OF ONSET(HP:0003674), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PAPILLARY THYROID CARCINOMA(HP:0002895), SPORADIC(HP:0003745)]
8031	NCOA4	[AGE OF ONSET(HP:0003674), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PAPILLARY THYROID CARCINOMA(HP:0002895), SPORADIC(HP:0003745)]
8048	CSRP3	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645), CARDIOMYOPATHY(HP:0001638), TACHYCARDIA(HP:0001649)]
8050	PDHX	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), UNSTEADY GAIT(HP:0002317), INCREASED SERUM PYRUVATE(HP:0003542), VARIABLE SEVERITY(HP:0003814), PSYCHOMOTOR RETARDATION(HP:0001255), ATAXIA(HP:0001251), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), DEVELOPMENTAL RETARDATION(HP:0001263), SPASTIC PARAPLEGIA(HP:0001258), HYPERTELORISM(HP:0000316), HYPOKINESIA(HP:0002375), SPASTIC TETRAPLEGIA(HP:0002510), DECREASED ACTIVITY OF THE PYRUVATE DEHYDROGENASE (PDH) COMPLEX(HP:0002928), PECTUS EXCAVATUM(HP:0000767), HIGH PALATE(HP:0000218), HYPERALANINEMIA(HP:0003348), METABOLIC ACIDOSIS(HP:0001942), LACTIC ACIDEMIA(HP:0003128), PARTIAL AGENESIS OF THE CORPUS CALLOSUM(HP:0001338), POOR FINE AND GROSS MOTOR COORDINATION(HP:0007015), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), ABNORMALITY OF EYE MOVEMENT(HP:0000496), DYSTONIA(HP:0001332), MICROCEPHALY(HP:0000252), SUBEPENDYMAL CYSTS(HP:0002416), ONSET AT BIRTH OR EARLY CHILDHOOD(HP:0003595), TRIGONOCEPHALY(HP:0000243), NEONATAL HYPOTONIA(HP:0001319)]
8074	FGF23	[RICKETS(HP:0002748), ANGIOID STREAKS(HP:0001102), OSTEOMALACIA(HP:0002749), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCOMPLETE PENETRANCE(HP:0003829), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TAURODONTIA(HP:0000679), ABNORMALITY OF THE SKIN(HP:0000951), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), HIGHLY VARIABLE PHENOTYPE(HP:0003815), GENERALIZED MUSCLE WEAKNESS(HP:0003324), CONJUNCTIVAL WHITISH 'SALT-LIKE' DEPOSITS(HP:0007799), DECREASED RENAL TUBULAR PHOSPHATE EXCRETION(HP:0005572), INCREASED RENAL TUBULAR PHOSPHATE REABSORPTION(HP:0005571), ONSET IN FIRST DECADE(HP:0003582), ABNORMALITY OF THE LOWER LIMBS(HP:0002814), CALCINOSIS(HP:0003761), DECREASED BODY HEIGHT(HP:0004322), THIN DENTAL ENAMEL(HP:0003770), PULP STONES(HP:0003771), VASCULAR CALCIFICATIONS(HP:0004934), BONE PAIN(HP:0002653), DECREASED RENAL TUBULAR PHOSPHATE REABSORPTION(HP:0000117), HYPOPHOSPHATEMIA(HP:0002148), HYPERPHOSPHATEMIA(HP:0002905)]
8086	AAAS	[HYPERPIGMENTATION(HP:0000953), ADRENOCORTICOTROPIC HORMONE -RESISTANT ADRENAL INSUFFICIENCY(HP:0008259), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMAL VESTIBULOOCULAR REFLEX(HP:0007670), HYPERREFLEXIA(HP:0001347), ATAXIA(HP:0001251), ABNORMALITY OF VISION EVOKED POTENTIALS(HP:0000649), OPTIC ATROPHY(HP:0000648), PROGRESSIVE DISORDER(HP:0003676), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), DYSARTHRIA(HP:0001260), ALACRIMA(HP:0000522), ORTHOSTATIC HYPOTENSION(HP:0001278), ONSET IN EARLY CHILDHOOD(HP:0003580), ACHALASIA(HP:0002571), MINERALOCORTICOID INSUFFICIENCY(HP:0008190), DECREASED BODY HEIGHT(HP:0004322), AUTONOMIC DYSFUNCTION(HP:0002387), GLUCOCORTICOID INSUFFICIENCY(HP:0000874), BABINSKI SIGN(HP:0003487), METABOLISM ABNORMALITY(HP:0001939), MICROCEPHALY(HP:0000252), MUSCLE WEAKNESS(HP:0001324), PALMOPLANTAR HYPERKERATOSIS(HP:0000972)]
8106	PABPN1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PTOSIS, PROGRESSIVE(HP:0007838), NECK MUSCLE WEAKNESS(HP:0000467), FACIAL MUSCLE WEAKNESS(HP:0010628), PROXIMAL MUSCLE WEAKNESS(HP:0003701), PROGRESSIVE DISORDER(HP:0003676), DISTAL LIMB MUSCLE WEAKNESS(HP:0003497), DYSARTHRIA(HP:0001260), GAIT ABNORMALITIES MAY OCCUR(HP:0006953), DYSPHAGIA(HP:0002015), ONSET IN ADULTHOOD(HP:0003581)]
8115	TCL1A	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), T-CELL CHRONIC LYMPHOCYTIC LYMPHOMA/LEUKEMIA(HP:0005539), LYMPHOMA(HP:0002665), T-CELL LYMPHOMA/LEUKEMIA(HP:0005517)]
8117	IGHR	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), IMMUNOLOGICAL ABNORMALITY(HP:0002715), ELEVATED ERYTHROCYTE SEDIMENTATION RATE(HP:0003565), HYPERACTIVITY(HP:0000752), HYPERKINESIS(HP:0002487)]
8139	GAN	[PES PLANUS(HP:0001763), TALIPES EQUINOVARUS(HP:0001762), PES CAVUS(HP:0001761), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DISTAL AMYOTROPHY(HP:0003693), HYPERREFLEXIA(HP:0001347), ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062), HYPOREFLEXIA OF LOWER LIMBS(HP:0002600), SLOW PROGRESSION(HP:0003677), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), SPASTIC PARAPLEGIA(HP:0001258), ONSET IN CHILDHOOD(HP:0003578), CURLY HAIR(HP:0002212), AREFLEXIA IN LOWER LIMBS(HP:0002522), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), SENSORY AND MOTOR AXONAL NEUROPATHY(HP:0007002), DISTAL SENSORY IMPAIRMENT(HP:0002936), NYSTAGMUS(HP:0000639), 'STEPPAGE' GAIT(HP:0003376), ABNORMALITY OF THE CEREBELLUM(HP:0001317)]
8195	MKKS	[CONGENITAL HIP DISLOCATION(HP:0001374), CONE-ROD DYSTROPHY(HP:0000548), HYPERTENSION(HP:0000822), TAPETORETINAL DEGENERATION(HP:0000547), DIABETES MELLITUS(HP:0000819), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MACROCEPHALY(HP:0000256), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), HYDROURETER(HP:0000072), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), VESICOVAGINAL FISTULA(HP:0001586), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), ABNORMALITY OF MUSCULATURE(HP:0003011), LEARNING DISABILITY(HP:0001328), BILIARY TRACT ABNORMALITY(HP:0001080), POLYCYSTIC KIDNEY(HP:0000113), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), HYDRONEPHROSIS(HP:0000126), PERICENTRAL PIGMENTARY RETINOPATHY(HP:0007852), ABNORMALITY OF THE OVARIES(HP:0000137), RECTOVAGINAL FISTULA(HP:0000143), DENTAL OVERCROWDING(HP:0000678), HYPOGONADISM(HP:0000135), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), ANAL ATRESIA(HP:0002023), TRANSVERSE VAGINAL SEPTUM(HP:0000145), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), RETINITIS PIGMENTOSA INVERSA(HP:0008035), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), PULMONARY HYPOPLASIA(HP:0002089), OBESITY(HP:0001513), CENTRAL POLYDACTYLY (HANDS)(HP:0006159), CLINODACTYLY OF HANDS(HP:0001157), POOR COORDINATION(HP:0002370), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), HIRSUTISM(HP:0001007), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
8200	GDF5	[DELAYED SKELETAL MATURATION(HP:0002750), FIBULAR APLASIA(HP:0002990), SHORT FIBULAE(HP:0002985), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RADIAL BOWING(HP:0002986), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPLASTIC/SHORT 1ST METACARPAL(HP:0010034), PSEUDOEPIPHYSES OF THE 2ND FINGER(HP:0009495), SHORT ULNA(HP:0002998), STILLBORN OR DEATH IN INFANCY(HP:0003823), SHORT TIBIA(HP:0002993), SHORT RADIUS(HP:0002995), SHORT, CUBOIDAL METACARPALS(HP:0006011), TRIANGULAR EPIPHYSIS OF THE PROXIMAL PHALANX OF THE 2ND FINGER(HP:0009534), ABNORMALLY SHAPED CARPAL BONES(HP:0006014), TRIANGULAR EPIPHYSIS OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009523), ENLARGED EPIPHYSIS OF THE PROXIMAL PHALANX OF THE 2ND FINGER(HP:0009527), BRACKET EPIPHYSIS OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009514), STILLBIRTH(HP:0001624), ENLARGED EPIPHYSIS OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009516), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), APLASTIC/HYPOPLASTIC TOENAILS(HP:0010624), ELBOW DISLOCATION(HP:0003042), METATARSUS VARUS(HP:0001840), VALGUS FOOT DEFORMITY(HP:0008081), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), HYPOPLASTIC/SMALL 2ND FINGER(HP:0009536), SHORT, BROAD LATERALLY DEVIATED HALLUCES(HP:0004700), ENLARGED EPIPHYSIS OF THE MIDDLE PHALANX OF THE 3RD FINGER(HP:0009324), MEDIALLY DEVIATED SECOND TOE(HP:0008096), STAPES ANKYLOSIS(HP:0000381), TRIANGULAR SHAPED PROXIMAL PHALANX OF THE 2ND FINGER(HP:0009587), SHORT HUMERI(HP:0003014), DEFORMED TARSAL BONES(HP:0008119), TRIANGULAR SHAPED MIDDLE PHALANX OF THE 2ND FINGER(HP:0009575), APLASIA/HYPOPLASIA OF THE MIDDLE PHALANX OF THE 2ND FINGER(HP:0009568), TRIANGULAR EPIPHYSIS OF THE MIDDLE PHALANX OF THE 3RD FINGER(HP:0009331), TALIPES EQUINOVARUS(HP:0001762), SHORT FEET(HP:0001766), TRANSVERSE PALMAR CREASES(HP:0000954), ENLARGED EPIPHYSIS OF THE PROXIMAL PHALANX OF THE 3RD FINGER(HP:0009349), BRACKET EPIPHYSIS OF THE MIDDLE PHALANX OF THE 5TH FINGER(HP:0009204), HEARING LOSS, CONDUCTIVE(HP:0000405), TRIANGULAR EPIPHYSIS OF THE PROXIMAL PHALANX OF THE 3RD FINGER(HP:0009356), TALIPES EQUINOVALGUS(HP:0001772), TYPE A BRACHYDACTYLY(HP:0009370), MALALIGNED CARPAL BONE(HP:0006092), BRACHYDACTYLY, COMPLEX(HP:0006128), TRIANGULAR SHAPED MIDDLE PHALANX OF THE 5TH FINGER(HP:0009182), DISLOCATED HIPS(HP:0002827), APLASIA/HYPOPLASIA OF THE MIDDLE PHALANX OF THE 5TH FINGER(HP:0009161), SHORT PROXIMAL AND MIDDLE PHALANGES(HP:0006144), PROXIMAL SYMPHALANGISM(HP:0006152), METACARPOPHALANGEAL SYNOSTOSES(HP:0005880), CONE-SHAPED EPIPHYSES OF THE MIDDLE PHALANGES OF THE HAND(HP:0010259), SHORT FEMUR(HP:0003097), HETEROGENEOUS(HP:0001425), APLASIA/HYPOPLASIA OF THE PATELLA(HP:0006498), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), PSEUDOEPIPHYSES OF THE 3RD FINGER(HP:0009417), ACROMESOMELIA(HP:0003086), SEVERE SHORT-LIMB DWARFISM(HP:0008890), DISPROPORTIONATE SHORTENING OF 2ND AND 3RD FINGERS(HP:0006017), TRIANGULAR SHAPED MIDDLE PHALANX OF THE 3RD FINGER(HP:0009436), VALGUS HAND DEFORMITY(HP:0006228), APLASIA/HYPOPLASIA OF THE MIDDLE PHALANGES OF THE TOES(HP:0010194), NEUROLOGICAL ABNORMALITY(HP:0000707), DISTAL FEMORAL BOWING(HP:0005096), SYNOSTOSIS INVOLVING THE CARPAL BONES(HP:0009702), ULNAR DEVIATION OF THE 3RD FINGER(HP:0009463), TRIANGULAR SHAPED PROXIMAL PHALANX OF THE 3RD FINGER(HP:0009456), DISTAL SYMPHALANGISM(HP:0001204), SYNOSTOSIS INVOLVING TARSAL BONES(HP:0008368), ULNAR DEVIATION OF THE 2ND FINGER(HP:0009464), RADIAL DEVIATION OF THE 2ND FINGER(HP:0009467)]
8242	KDM5C	[MYOPIA(HP:0000545), CRYPTORCHIDISM(HP:0000028), FLAT PHILTRUM(HP:0000319), ALOPECIA AREATA(HP:0002229), MICROPENIS(HP:0000054), HYPERMETROPIA(HP:0000540), FACIAL HYPOTONIA(HP:0000297), MANDIBULAR PROGNATHIA(HP:0000303), SMALL FOREHEAD(HP:0000350), HYPOPLASIA OF THE MAXILLA(HP:0000327), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE HYPOTROPHY(HP:0009001), UPSLANTING PALPEBRAL FISSURES(HP:0000582), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), LOWER LIMB HYPERTONIA(HP:0006895), TALIPES CALCANEOVARUS(HP:0008124), DECREASED TESTICULAR SIZE(HP:0008734), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), SHORT, THICK DISTAL PHALANGES(HP:0001221), SMALL FEET(HP:0001764), LARGE EARS(HP:0000400), DIASTEMA(HP:0000699), SEIZURES(HP:0001250), SPASTIC PARAPLEGIA, SLOWLY PROGRESSIVE(HP:0007255), SHUFFLING GAIT(HP:0002362), LOW FRUSTRATION TOLERANCE(HP:0000744), DECREASED BODY HEIGHT(HP:0004322), FURROWED TONGUE(HP:0000221), PECTUS EXCAVATUM(HP:0000767), THIN UPPER LIP(HP:0000219), X-LINKED RECESSIVE INHERITANCE(HP:0001419), LARGE HANDS(HP:0001176), LOWER LIMB HYPERREFLEXIA(HP:0002395), MICROGNATHIA(HP:0000210), AGGRESSIVE BEHAVIOR(HP:0000718), RESTLESSNESS(HP:0000711), MICROCEPHALY(HP:0000252), STRABISMUS(HP:0000486)]
8273	SLC10A3	[X-LINKED INHERITANCE(HP:0001417)]
8284	KDM5D	[IMMUNOLOGICAL ABNORMALITY(HP:0002715), Y-LINKED INHERITANCE(HP:0001450)]
8287	USP9Y	[GENITOURINARY ABNORMALITY(HP:0000119), Y-LINKED INHERITANCE(HP:0001450)]
8288	EPX	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
8291	DYSF	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PROXIMAL MUSCLE WEAKNESS(HP:0003701), AMYOTROPHY INVOLVING THE LOWER LIMBS(HP:0003746), DIFFICULTY CLIMBING STAIRS(HP:0003551), INCREASED CREATINE KINASE(HP:0003078), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES(HP:0003544), INCREASED VARIABILITY IN MUSCLE FIBER SIZE(HP:0003557), SERUM CREATINE KINASE 20-70 TIMES NORMAL(HP:0008164), SLOW PROGRESSION(HP:0003677), MUSCLE FIBER SPLITTING(HP:0003555), RAPIDLY PROGRESSIVE(HP:0003678), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), DECREASED OR ABSENT ANKLE REFLEXES(HP:0007032)]
8292	COLQ	[RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), EMG SHOWS DECREMENTAL RESPONSE OF COMPOUND MUSCLE ACTION POTENTIAL (CMAP) TO REPETITIVE NERVE STIMULATION(HP:0003403), WEAKNESS(HP:0002309), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LIMB MUSCLE WEAKNESS(HP:0003690), DECREASED MUSCLE MASS(HP:0003199), MYOPATHY(HP:0003198), MUSCULAR HYPOTONIA(HP:0001252), WEAK CRY(HP:0001612), IMMUNOLOGICAL ABNORMALITY(HP:0002715), TYPE 2 MUSCLE FIBER ATROPHY(HP:0003554), GENERALIZED MUSCLE WEAKNESS(HP:0003324), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), POOR FEEDING DUE TO MUSCLE WEAKNESS(HP:0002568), ONSET IN INFANCY(HP:0003576), MUSCLE BIOPSY SHOWS DECREASED SIZE OF NERVE TERMINALS(HP:0003443), ONSET IN CHILDHOOD(HP:0003578), RESPIRATORY INSUFFICIENCY(HP:0002093), PROLONGED MINIATURE ENDPLATE POTENTIALS (MEPP)(HP:0003479), LORDOSIS(HP:0002939), PTOSIS(HP:0000508), SCOLIOSIS(HP:0002650), OPHTHALMOPARESIS(HP:0000597), EASY FATIGABILITY(HP:0003388)]
8301	PICALM	[FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
8312	AXIN1	[HETEROGENEOUS(HP:0001425), SUBACUTE PROGRESSIVE VIRAL HEPATITIS(HP:0006572), METABOLISM ABNORMALITY(HP:0001939), SOMATIC MUTATION(HP:0001428), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEPATOCELLULAR CARCINOMA(HP:0001402), MICRONODULAR CIRRHOSIS(HP:0001413)]
8313	AXIN2	[TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), UTERINE LEIOMYOSARCOMA(HP:0002891), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716)]
8322	FZD4	[FALCIFORM RETINAL FOLDS(HP:0001493), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), VITREOUS DETACHMENT(HP:0001489), VITREOUS HEMORRHAGE(HP:0007902), PARTIAL-TOTAL RETINAL DETACHMENT(HP:0008021), SLOW PROGRESSION(HP:0003677), SUBCAPSULAR CATARACTS(HP:0000523), RETINAL EXUDATES(HP:0001147), LOW BIRTH WEIGHT(HP:0001518), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), PREMATURE BIRTH(HP:0001622), HETEROGENEOUS(HP:0001425), BLINDNESS(HP:0000618), PERIPHERAL RETINAL AVASCULARIZATION(HP:0007685), RECURRENT FRACTURES(HP:0002757), RETINAL VASCULAR PROLIFERATION(HP:0007850)]
8379	MAD1L1	[EARLY ONSET(HP:0003593), NEOPLASIA(HP:0002664)]
8398	PLA2G6	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PSYCHOMOTOR REGRESSION, PROGRESSIVE(HP:0006797), VISUAL LOSS(HP:0000572), CEREBRAL ATROPHY(HP:0002059), HYPERREFLEXIA(HP:0001347), ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062), MUSCULAR HYPOTONIA(HP:0001252), NASAL HYPOPLASIA(HP:0003196), ABNORMALITY OF VISION EVOKED POTENTIALS(HP:0000649), SEIZURES(HP:0001250), FRONTAL BOSSING(HP:0002007), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), GENERALIZED MUSCLE WEAKNESS(HP:0003324), EMG SHOWS CHRONIC DENERVATION(HP:0003444), ONSET IN INFANCY(HP:0003576), CEREBELLAR ATROPHY(HP:0001272), SPASTIC TETRAPLEGIA(HP:0002510), MICROGNATHIA(HP:0000210), NEURONAL LOSS(HP:0002400), METABOLISM ABNORMALITY(HP:0001939), GLIOSIS(HP:0002171), HEARING LOSS(HP:0000365), STRABISMUS(HP:0000486), LATE ONSET(HP:0003584)]
8419	BFSP2	[CATARACT, PROGRESSIVE(HP:0007828), CONGENITAL CATARACT(HP:0000519), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), PROGRESSIVE CATARACTS(HP:0007834), ONSET IN ADULTHOOD(HP:0003581), ONSET IN ADOLESCENCE(HP:0003590), JUVENILE ONSET(HP:0003621)]
8431	NR0B2	[METABOLISM ABNORMALITY(HP:0001939), OBESITY(HP:0001513)]
8438	RAD54L	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BREAST CANCER(HP:0003002)]
8443	GNPAT	[CONTRACTURES(HP:0001371), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CATARACT(HP:0000518), IRREGULAR VERTEBRAL ENDPLATES(HP:0003301), RHIZOMELIC SHORTENING(HP:0002968), HIGH FOREHEAD(HP:0000348), SHORT, DUMBBELL FEMUR(HP:0006375), SHORT STATURE, DISPROPORTIONATE(HP:0003498), SHORT HUMERI(HP:0003014), HIGH-ARCHED PALATE(HP:0000156), OSTEOPENIA(HP:0000938), MUSCULAR HYPOTONIA(HP:0001252), MENTAL RETARDATION(HP:0001249), FAILURE TO THRIVE(HP:0001508), LOW NASAL BRIDGE(HP:0000428), BROAD NASAL BRIDGE(HP:0000431), CALCIFIC STIPPLING(HP:0002832), HYPOKINESIA(HP:0002375), NARES, ANTEVERTED(HP:0000463), MICROGNATHIA(HP:0000210), LARGE FONTANELLES(HP:0000239), ABNORMALITY OF THE PELVIS(HP:0002644), METABOLISM ABNORMALITY(HP:0001939), STIPPLED CALCIFICATION PROXIMAL HUMERAL EPIPHYSES(HP:0008838), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252)]
8450	CUL4B	[DELAYED PUBERTY(HP:0000823), PES CAVUS(HP:0001761), GAIT ATAXIA(HP:0002066), SMALL FEET(HP:0001764), HYPOGONADISM(HP:0000135), CRYPTORCHIDISM(HP:0000028), ABNORMALITY OF THE VOICE(HP:0001608), SEIZURES(HP:0001250), HYPOSPADIAS(HP:0000047), JOINT LAXITY(HP:0001388), GYNECOMASTIA(HP:0000771), MICROPENIS(HP:0000054), PROMINENT LOWER LIP(HP:0000179), KYPHOSIS(HP:0002808), DECREASED BODY HEIGHT(HP:0004322), TRUNCAL OBESITY(HP:0001956), SPEECH DELAY(HP:0002117), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPERACTIVITY(HP:0000752), TREMOR(HP:0001337), STRIAE DISTENSAE(HP:0001065), ABNORMALITY OF MUSCULATURE(HP:0003011), MOOD SWINGS(HP:0000720), DECREASED TESTICULAR SIZE(HP:0008734)]
8456	FOXN1	[ABNORMALITY OF THE NAILS(HP:0001597), HAIR ABNORMALITY(HP:0001595), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SEVERE T-CELL IMMUNODEFICIENCY(HP:0005352)]
8481	OFD1	[CONGENITAL HIP DISLOCATION(HP:0001374), MULTICYSTIC KIDNEY(HP:0000003), HYPOTHALAMIC HAMARTOMA(HP:0002444), COARSE FACIAL FEATURES(HP:0000280), EPICANTHUS(HP:0000286), SCAPHOCEPHALY(HP:0000258), MACROCEPHALY(HP:0000256), INGUINAL HERNIA(HP:0000023), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), PROMINENT PHILTRUM(HP:0000305), MICRORETROGNATHIA(HP:0000308), HYPERTELORISM(HP:0000316), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), MICROPENIS(HP:0000054), ONSET IN ADULTHOOD(HP:0003581), FACIAL ASYMMETRY(HP:0000324), ALOPECIA(HP:0001596), RECURRENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0002788), LOW-SET EARS(HP:0000369), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), MILIA(HP:0001056), ABSENCE OF PERMANENT TEETH(HP:0006349), POSTERIORLY ROTATED EARS(HP:0000358), POLYCYSTIC KIDNEY(HP:0000113), GRAY MATTER HETEROTOPIAS(HP:0002281), HEARING LOSS(HP:0000365), ABNORMALITY OF THE CEREBELLUM(HP:0001317), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), WIDE INTERMAMILLARY DISTANCE(HP:0006610), NAIL HYPOPLASIA(HP:0001792), TALIPES EQUINOVARUS(HP:0001762), TRANSVERSE PALMAR CREASES(HP:0000954), SUPERNUMERARY TEETH(HP:0000672), HIGH-ARCHED PALATE(HP:0000156), ABNORMALITY OF THE TOES(HP:0001780), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), FRONTAL BOSSING(HP:0002007), BRISK DEEP TENDON REFLEXES(HP:0007259), MEDIAN CLEFT LIP(HP:0000161), SHORT, BROAD NOSE(HP:0000438), 'CARP-LIKE' MOUTH(HP:0000186), CARIOUS TEETH(HP:0000670), BROAD NASAL BRIDGE(HP:0000431), HYPOPLASTIC NASAL ALAE(HP:0000430), PNEUMONIA(HP:0002090), AGENESIS OF CORPUS CALLOSUM(HP:0001274), LOBULATED TONGUE(HP:0000180), MACROSTOMIA(HP:0000181), PORENCEPHALY(HP:0002132), NUCHAL SKIN FOLDS(HP:0000477), CLINODACTYLY OF HANDS(HP:0001157), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), VARIABLE MENTAL RETARDATION(HP:0002382), SHORT NECK(HP:0000470), PRE- OR POSTAXIAL POLYDACTYLY(HP:0006046), TONGUE NODULES(HP:0000199), DECREASED BODY HEIGHT(HP:0004322), NARES, ANTEVERTED(HP:0000463), BROAD HANDS(HP:0001169), THIN UPPER LIP(HP:0000219), X-LINKED RECESSIVE INHERITANCE(HP:0001419), X-LINKED DOMINANT INHERITANCE(HP:0001423), FACIAL CAPILLARY HEMANGIOMA(HP:0000996), HYDROCEPHALUS(HP:0000238), SHORT TAPERING FINGERS(HP:0005795), TELECANTHUS(HP:0000506), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
8492	PRSS12	[MENTAL RETARDATION(HP:0001249), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERACTIVITY(HP:0000752), STRABISMUS(HP:0000486), NYSTAGMUS(HP:0000639), HYPERKINESIS(HP:0002487)]
8493	PPM1D	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BREAST CANCER(HP:0003002)]
8504	PEX3	[DELAYED SKELETAL MATURATION(HP:0002750), PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BRUSHFIELD SPOTS(HP:0001088), PROLONGED NEONATAL JAUNDICE(HP:0006579), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), OCCIPITAL PLAGIOCEPHALY(HP:0005469), ABNORMAL ELECTRORETINOGRAM(HP:0000512), CORNEAL CLOUDING(HP:0000515), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), REDUNDANT SKIN FOLDS OF NECK(HP:0005996), CLITOROMEGALY(HP:0000057), PALE OPTIC DISKS(HP:0000543), BELL-SHAPED CHEST(HP:0001591), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), PIGMENTARY RETINOPATHY(HP:0000580), UPSLANTING PALPEBRAL FISSURES(HP:0000582), HETEROTOPIA(HP:0002282), HYDRONEPHROSIS(HP:0000126), TALIPES EQUINOVARUS(HP:0001762), HIGH-ARCHED PALATE(HP:0000156), MACROGLOSSIA(HP:0000158), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), HYPOREFLEXIA(HP:0001265), PULMONARY HYPOPLASIA(HP:0002089), POLYMICROGYRIA(HP:0002126), MICROGNATHIA(HP:0000210), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), BRACHYTURRICEPHALY(HP:0000244), MALAR HYPOPLASIA(HP:0000272), EPICANTHUS(HP:0000286), MACROCEPHALY(HP:0000256), INTRAHEPATIC BILIARY DYSGENESIS(HP:0001401), ROUND FACE(HP:0000311), REDUNDANT SKIN FOLDS(HP:0007391), HYPERTELORISM(HP:0000316), CUBITUS VALGUS(HP:0002967), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), HIGH FOREHEAD(HP:0000348), METATARSUS VARUS(HP:0001840), STIPPLING OF THE EPIPHYSES(HP:0010655), ABNORMALITY OF THE HELIX(HP:0000380), ADRENAL HYPOPLASIA(HP:0000835), POSTERIORLY ROTATED EARS(HP:0000358), HYPOPLASTIC OLFACTORY LOBES(HP:0006894), RENAL CORTICAL MICROCYSTS(HP:0004734), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), TRANSVERSE PALMAR CREASES(HP:0000954), HEARING LOSS, SENSORINEURAL(HP:0000407), FAILURE TO THRIVE(HP:0001508), ELEVATED LONG CHAIN FATTY ACIDS(HP:0003455), HYPOKINESIA(HP:0002375), NARES, ANTEVERTED(HP:0000463), CONGENITAL VERTICAL TALUS(HP:0010218), GLAUCOMA(HP:0000501), AMINOACIDURIA(HP:0002903), SUBEPENDYMAL CYSTS(HP:0002416)]
8517	IKBKG	[KYPHOSCOLIOSIS(HP:0002751), UVEITIS(HP:0000554), RETINAL HEMORRHAGE(HP:0000573), MICROPHTHALMOS(HP:0000568), CATARACT(HP:0000518), EOSINOPHILIA(HP:0001880), THIN HAIR(HP:0002237), DETACHED RETINA(HP:0000541), COARSE HAIR(HP:0002208), ONYCHOGRYPOSIS(HP:0001819), SPARSE, FINE HAIR(HP:0002291), NAIL RIDGING(HP:0001807), HYPOPLASTIC NIPPLES(HP:0002557), SUPERNUMERARY NIPPLES(HP:0002558), NAIL PITTING(HP:0001803), RETINAL VASCULAR PROLIFERATION(HP:0007850), DELAYED DENTITION(HP:0000684), ATROPHIC, PATCHY ALOPECIA(HP:0004529), ABNORMALITY OF THE SKIN(HP:0000951), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), BREAST HYPOPLASIA(HP:0003187), SPASTICITY(HP:0001257), HYPODONTIA(HP:0000668), LEUKOCYTOSIS(HP:0001974), DECREASED BODY HEIGHT(HP:0004322), HEMIVERTEBRAE(HP:0002937), X-LINKED DOMINANT INHERITANCE(HP:0001423), NAIL DYSPLASIA(HP:0002164), SUPERNUMERARY RIBS(HP:0005815), MICROCEPHALY(HP:0000252), KERATITIS(HP:0000491), STRABISMUS(HP:0000486)]
8518	IKBKAP	[INCOORDINATION(HP:0002311), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED CORNEAL REFLEX(HP:0008000), RECURRENT INFECTIONS DUE TO ASPIRATION(HP:0004891), CONSTIPATION(HP:0002019), GASTROESOPHAGEAL REFLUX(HP:0002020), FEEDING DIFFICULTIES(HP:0002022), INCREASED BLOOD UREA NITROGEN (BUN)(HP:0003138), MUSCULAR HYPOTONIA(HP:0001252), NEUROPATHIC ARTHROPATHY(HP:0002821), PROGRESSIVE DISORDER(HP:0003676), DIARRHEA(HP:0002014), ALACRIMA(HP:0000522), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), GROWTH RETARDATION(HP:0001510), HYPOREFLEXIA(HP:0001265), ONSET AT BIRTH(HP:0003577), INCREASED SERUM CREATININE(HP:0003227), IMPAIRED RENAL FUNCTION(HP:0000087), FEVER, EPISODIC(HP:0001954), EMOTIONAL LABILITY(HP:0000712), GLOMERULOSCLEROSIS(HP:0000096), DECREASED SENSITIVITY TO HYPOXEMIA(HP:0005947), HYPERHIDROSIS, EPISODIC(HP:0001069), SCOLIOSIS(HP:0002650), ACROCYANOSIS(HP:0001063), DECREASED TASTE SENSATION(HP:0000224), RECURRENT CORNEAL EROSIONS(HP:0000495), LOSS OF LARGE MYELINATED FIBERS(HP:0003387)]
8540	AGPS	[SHORT STATURE, DISPROPORTIONATE SHORT-LIMBED(HP:0008873), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), STIPPLING OF THE EPIPHYSES(HP:0010655), METABOLISM ABNORMALITY(HP:0001939), FAILURE TO THRIVE(HP:0001508), RHIZOMELIC SHORTENING(HP:0002968)]
8546	AP3B1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ACETABULAR DYSPLASIA(HP:0008807), COARSE FACIAL FEATURES(HP:0000280), RECURRENT BACTERIAL INFECTIONS(HP:0002718), DENTAL DECAY DUE TO RECURRENT BACTERIAL PERIODONTITIS(HP:0006301), NEUTROPENIA(HP:0001875), THROMBOCYTOPENIA(HP:0001873), ABERRANT MELANOSOME MATURATION(HP:0007384), HIP DYSPLASIA(HP:0001385), ONSET AT BIRTH(HP:0003577), PHOTOPHOBIA(HP:0000613), LONG, FLAT PHILTRUM(HP:0000323), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), LOW-SET EARS(HP:0000369), UPSLANTING PALPEBRAL FISSURES(HP:0000582), MILD MOTOR DEVELOPMENT DELAY(HP:0006909), FAIR HAIR(HP:0002294), POSTERIORLY ROTATED EARS(HP:0000358), OCULAR ALBINISM, TYROSINASE-POSITIVE(HP:0007745), MENTAL RETARDATION, MILD(HP:0001256), SPLENOMEGALY(HP:0001744), BROAD NASAL ROOT(HP:0000424), CARIOUS TEETH(HP:0000670), HETEROGENEOUS(HP:0001425), THIN UPPER LIP(HP:0000219), PULMONARY FIBROSIS DUE TO RECURRENT INFECTIONS(HP:0006523), FAIR SKIN(HP:0000984), IMPAIRED VISION(HP:0000505), MICROCEPHALY(HP:0000252), PARTIAL ALBINISM(HP:0007443), STRABISMUS(HP:0000486)]
8557	TCAP	[DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CALF HYPERTROPHY(HP:0003703), DISTAL AMYOTROPHY(HP:0003693), DIFFICULTY CLIMBING STAIRS(HP:0003551), PROXIMAL UPPER LIMB MUSCLE ATROPHY(HP:0008948), MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES(HP:0003544), INCREASED VARIABILITY IN MUSCLE FIBER SIZE(HP:0003557), ONSET BEFORE AGE 2 YEARS(HP:0003667), RIMMED VACUOLES(HP:0003805), INCREASED CONNECTIVE TISSUE(HP:0009025), DIFFICULTY WALKING, RUNNING(HP:0009030), DISTAL MUSCLE WEAKNESS IN LOWER LIMBS, SEVERE(HP:0009035), HETEROGENEOUS(HP:0001425), PROXIMAL MUSCLE WEAKNESS IN UPPER LIMBS(HP:0008997), AREFLEXIA IN LOWER LIMBS(HP:0002522), PROXIMAL MUSCLE WEAKNESS IN LOWER LIMBS(HP:0008994), INCREASED SERUM CREATINE KINASE(HP:0002147), FOOT DROP(HP:0003377)]
8565	YARS	[ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL AMYOTROPHY(HP:0003693), DISTAL SENSORY IMPAIRMENT(HP:0002936), UPPER LIMB INVOLVEMENT MAY OCCUR LATER(HP:0003484), AGE OF ONSET(HP:0003674), AXONAL REGENERATION ON NERVE BIOPSY(HP:0003450)]
8600	TNFSF11	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GENU VALGUM(HP:0002857), OPTIC ATROPHY(HP:0000648), CHRONIC RHINITIS DUE TO NARROW NASAL AIRWAY(HP:0004499), MANDIBULAR OSTEOMYELITIS(HP:0007626), PANCYTOPENIA(HP:0001876), CARIOUS TEETH(HP:0000670), MANDIBULAR PROGNATHIA(HP:0000303), HEPATOSPLENOMEGALY(HP:0001433), EXTRAMEDULLARY HEMATOPOIESIS(HP:0001978), FACIAL PARALYSIS DUE TO CRANIAL NERVE VII COMPRESSION(HP:0007209), CRANIAL HYPEROSTOSIS(HP:0004437), DIAPHYSEAL SCLEROSIS(HP:0003034), PERSISTENCE OF DECIDUOUS TEETH(HP:0006341), RECURRENT FRACTURES(HP:0002757)]
8622	PDE8B	[HYPOKINESIA(HP:0002375), BRADYKINESIA(HP:0002067), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DYSDIADOCHOKINESIS(HP:0002075), GAIT DISTURBANCE(HP:0001288), RIGIDITY(HP:0002063), SLOW PROGRESSION(HP:0003677), DYSARTHRIA(HP:0001260), BRISK LOWER EXTREMITY REFLEXES(HP:0007245), MRI SHOWS SYMMETRIC LESIONS OF THE BASAL GANGLIA(HP:0007039)]
8625	RFXANK	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RECURRENT URINARY TRACT INFECTIONS(HP:0000010), VIRAL HEPATITIS(HP:0006562), CHRONIC LYMPHOCYTIC MENINGITIS(HP:0007041), PROTRACTED DIARRHEA(HP:0004385), CHRONIC MUCOCUTANEOUS CANDIDIASIS(HP:0002728), MALABSORPTION(HP:0002024), PANHYPOGAMMAGLOBULINEMIA(HP:0003139), SEVERE COLITIS(HP:0002583), NEUTROPENIA(HP:0001875), FAILURE TO THRIVE(HP:0001508), LACK OF DELAYED SKIN HYPERSENSITIVITY REACTION(HP:0005427), RECURRENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0002788), RECURRENT LOWER RESPIRATORY TRACT INFECTIONS(HP:0002783), FREQUENT BACTERIAL, VIRAL, PROTOZOAN, AND FUNGAL INFECTIONS(HP:0005386), BILIARY TRACT ABNORMALITY(HP:0001080)]
8626	TP63	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABSENT LACRIMAL PUNCTA(HP:0001092), BLADDER DIVERTICULA(HP:0000015), LACRIMAL DUCT ATRESIA(HP:0000564), CRYPTORCHIDISM(HP:0000028), PILI CANALICULI(HP:0002235), PATCHY ALOPECIA(HP:0002232), SPARSE, THIN SCALP HAIR(HP:0002233), SPARSE PUBIC HAIR(HP:0002225), HYPOSPADIAS(HP:0000047), SPARSE BODY HAIR(HP:0002231), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), SPARSE EYEBROWS(HP:0000535), ANKYLOBLEPHARON(HP:0009755), VENTRICULAR SEPTAL DEFECT(HP:0001629), MICROPENIS(HP:0000054), HYPOPLASTIC LABIA MAJORA(HP:0000059), SPARSE AXILLARY HAIR(HP:0002215), BLOND HAIR(HP:0002214), URETEROCELE(HP:0000070), PHOTOPHOBIA(HP:0000613), VESICOURETERAL REFLUX(HP:0000076), HYDROURETER(HP:0000072), DACROCYSTITIS(HP:0000620), DUPLICATED COLLECTING SYSTEM(HP:0000081), SELECTIVE TOOTH AGENESIS(HP:0001592), BLUE IRIDES(HP:0000635), NASOLACRIMAL DUCT OBSTRUCTION(HP:0000579), BLEPHAROPHIMOSIS(HP:0000581), RENAL DYSPLASIA(HP:0000110), ALOPECIA OF SCALP(HP:0002293), SPARSE, FINE HAIR(HP:0002291), RENAL AGENESIS(HP:0000104), PROGRESSIVE ALOPECIA(HP:0002287), SPARSE TO ABSENT EYELASHES(HP:0002284), HYDRONEPHROSIS(HP:0000126), WIDE INTERMAMILLARY DISTANCE(HP:0006610), WIDELY SPACED TEETH(HP:0000687), OLIGODONTIA(HP:0000677), CONICAL TEETH(HP:0000698), TRANSVERSE VAGINAL SEPTUM(HP:0000145), MICRODONTIA(HP:0000691), DECREASED NUMBER OF SWEAT PORES(HP:0007500), CLEFT PALATE(HP:0000175), MENTAL RETARDATION(HP:0001249), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), MICROSTOMIA(HP:0000160), BREAST HYPOPLASIA(HP:0003187), HYPODONTIA(HP:0000668), CARIOUS TEETH(HP:0000670), ABSENT NIPPLES(HP:0002561), CLEFT LIP(HP:0000204), ABSENCE OF STENSEN DUCT(HP:0000198), BIFID UVULA(HP:0000193), VELOPHARYNGEAL INSUFFICIENCY(HP:0000220), ECTRODACTYLY (HANDS)(HP:0001171), XEROSTOMIA(HP:0000217), NAIL DYSPLASIA(HP:0002164), MALAR HYPOPLASIA(HP:0000272), GROWTH HORMONE DEFICIENCY(HP:0000824), OVAL FACE(HP:0000300), HIGH FOREHEAD(HP:0000348), HYPOPLASIA OF THE MAXILLA(HP:0000327), ECTRODACTYLY (FEET)(HP:0001839), 2-3 TOE SYNDACTYLY(HP:0004691), HALLUX VALGUS(HP:0001822), PREMATURE LOSS OF SECONDARY TEETH(HP:0006357), SMALL NAILS(HP:0001813), CENTRAL DIABETES INSIPIDUS(HP:0000863), THIN SCALP HAIR(HP:0002556), HYPOPLASTIC NIPPLES(HP:0002557), SUPERNUMERARY NIPPLES(HP:0002558), THICKENED NAILS(HP:0001805), NAIL PITTING(HP:0001803), ANONYCHIA(HP:0001798), HYPERCONVEX NAILS(HP:0001795), DRY SKIN(HP:0000958), SMALL EARS(HP:0000409), HYPERPIGMENTATION(HP:0000953), EXTERNAL AUDITORY CANAL ATRESIA(HP:0000413), CAMPTODACTYLY (HANDS)(HP:0010563), RECURRENT OTITIS MEDIA(HP:0000403), HEARING LOSS, CONDUCTIVE(HP:0000405), FRECKLING(HP:0001480), FLAT NASAL TIP(HP:0000437), LOW NASAL BRIDGE(HP:0000428), BROAD NASAL BRIDGE(HP:0000431), HYPOPLASTIC NASAL ALAE(HP:0000430), DERMAL ATROPHY(HP:0004334), DECREASED BODY HEIGHT(HP:0004322), NARROW NOSE(HP:0000460), PHOTOSENSITIVITY(HP:0000992), CHOANAL ATRESIA(HP:0000453), PTOSIS(HP:0000508), CONJUNCTIVITIS(HP:0000509), FAIR SKIN(HP:0000984), PALMOPLANTAR KERATODERMA(HP:0000982), BLEPHARITIS(HP:0000498), ECTODERMAL DYSPLASIA(HP:0000968), THIN SKIN(HP:0000963), HYPOHIDROSIS(HP:0000966), ECZEMA(HP:0000964)]
8643	PTCH2	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MEDULLOBLASTOMA(HP:0002885)]
8647	ABCB11	[HETEROGENEOUS(HP:0001425), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED BODY HEIGHT(HP:0004322), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), DEATH IN CHILDHOOD(HP:0003819), MALABSORPTION(HP:0002024), HEPATOMEGALY(HP:0002240), INTERMITTENT JAUNDICE(HP:0001046), INTRAHEPATIC CHOLESTASIS(HP:0001406), PRURITUS(HP:0000989), DIARRHEA(HP:0002014), CIRRHOSIS(HP:0001394), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), ONSET IN EARLY INFANCY(HP:0003591), CONJUGATED HYPERBILIRUBINEMIA(HP:0002908)]
8659	ALDH4A1	[MENTAL RETARDATION(HP:0001249), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERPROLINEMIA(HP:0008358), HYDROXYPROLINURIA(HP:0003080), GLYCINURIA(HP:0002931), PROLINURIA(HP:0003137)]
8671	SLC4A4	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PROXIMAL RENAL TUBULAR ACIDOSIS(HP:0002049), INCREASED RED CELL OSMOTIC RESISTANCE(HP:0005546), MENTAL RETARDATION(HP:0001249), CORNEAL CLOUDING(HP:0000515), GLAUCOMA(HP:0000501), BAND KERATOPATHY(HP:0000585), GROWTH RETARDATION(HP:0001510), HYPERCHLOREMIC ACIDOSIS(HP:0001995), BICARBONATE-WASTING RENAL TUBULAR ACIDOSIS(HP:0004910)]
8675	STX16	[ELEVATED SERUM PARATHYROID HORMONE (PTH) LEVEL(HP:0003165), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), LOW URINARY CYCLIC AMP RESPONSE TO PTH ADMINISTRATION(HP:0003456), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PSEUDOHYPOPARATHYROIDISM(HP:0000852), HYPOCALCEMIA(HP:0002901), HYPERPHOSPHATEMIA(HP:0002905), ISOLATED CASES(HP:0001420)]
8792	TNFRSF11A	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), DEAFNESS(HP:0000404), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), AGE OF ONSET(HP:0003674), VERTEBRAL COMPRESSION FRACTURES(HP:0002953), ABNORMALITY OF THE TEETH(HP:0000164), CRANIAL NERVE PARALYSIS(HP:0006824), OSTEOSCLEROSIS(HP:0010738), HETEROGENEOUS(HP:0001425), ARTHROPATHY(HP:0003040), HYDROXYPROLINURIA(HP:0003080), FRACTURES OF THE LONG BONES(HP:0003084), PARAPARESIS(HP:0002385), BRAIN STEM COMPRESSION(HP:0002512), ABNORMALITY OF THE PELVIS(HP:0002644), BONE PAIN(HP:0002653), LONG-TRACT SIGNS(HP:0002423), PATHOLOGIC FRACTURE(HP:0002756), TETRAPARESIS(HP:0002273)]
8795	TNFRSF10B	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SQUAMOUS CELL CARCINOMA(HP:0002860)]
8802	SUCLG1	[RENAL AMINOACIDURIA(HP:0008335), ABNORMALITY OF THE SKIN(HP:0000951), UNSTEADY GAIT(HP:0002317), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), LACTIC ACIDEMIA(HP:0003128), ATAXIA(HP:0001251), SEIZURES(HP:0001250), INTERMITTENT HYPERPNEA AT REST(HP:0005941), HYPOPHOSPHATEMIA(HP:0002148), GROWTH RETARDATION(HP:0001510), POOR MOTOR COORDINATION(HP:0002275)]
8805	TRIM24	[AGE OF ONSET(HP:0003674), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PAPILLARY THYROID CARCINOMA(HP:0002895), SPORADIC(HP:0003745)]
8813	DPM1	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KNEE CONTRACTURES(HP:0002978), MICROCEPHALY, ACQUIRED(HP:0000259), OCCIPITAL PLAGIOCEPHALY(HP:0005469), HIGH, NARROW PALATE(HP:0002705), HYPERTELORISM(HP:0000316), HYPOPLASIA INVOLVING BONES OF THE UPPER LIMBS(HP:0009824), HEMANGIOMAS(HP:0001028), HEPATOMEGALY(HP:0002240), CORTICAL BLINDNESS(HP:0000595), INCREASED LIVER FUNCTION TESTS(HP:0003156), RESPIRATORY DISTRESS(HP:0002098), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), EEG ABNORMALITIES(HP:0002353), SPLENOMEGALY(HP:0001744), FLATTENED NASAL BRIDGE(HP:0000425), FAILURE TO THRIVE(HP:0001508), PROLONGED PARTIAL THROMBOPLASTIN TIME(HP:0003645), ABNORMAL ISOELECTRIC FOCUSING OF SERUM TRANSFERRIN (TYPE 1 PATTERN)(HP:0003642), GLOBAL DEVELOPMENTAL DELAY, SEVERE(HP:0007228), TELANGIECTASIA(HP:0001009), ANTITHROMBIN III DEFICIENCY(HP:0001976), SMALL HANDS(HP:0001165), PROTEIN C DEFICIENCY(HP:0005543), LOWER LIMB HYPERREFLEXIA(HP:0002395), NAIL DYSPLASIA(HP:0002164), CONTRACTURES OF THE ANKLES(HP:0006466), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), INCREASED SERUM CREATINE KINASE(HP:0002147), STRABISMUS(HP:0000486), PROTEIN S DEFICIENCY(HP:0004855)]
8820	HESX1	[HYPOPLASTIC OPTIC DISCS WITH DOUBLE MARGIN(HP:0007890), GROWTH HORMONE DEFICIENCY(HP:0000824), ABSENT SEPTUM PELLUCIDUM(HP:0001331), ABNORMALITY OF THE CORPUS CALLOSUM(HP:0001273)]
8833	GMPS	[FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
8838	WISP3	[KYPHOSCOLIOSIS(HP:0002751), ABNORMALITY OF THE FEET(HP:0001760), CONTRACTURES(HP:0001371), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CAMPTODACTYLY (HANDS)(HP:0010563), ENLARGED EPIPHYSES(HP:0010580), DECREASED CERVICAL SPINE MOBILITY(HP:0004637), PLATYSPONDYLY(HP:0000926), ENLARGED METACARPOPHALANGEAL JOINTS(HP:0006163), DIFFICULTY WALKING(HP:0002355), GENU VARUM(HP:0002970), JOINT SWELLING(HP:0001386), JOINT STIFFNESS(HP:0001387), FLATTENED, ENLARGED EPIPHYSES(HP:0005082), COXA VARA(HP:0002812), ARTHROPATHY(HP:0003040), ENLARGED INTERPHALANGEAL JOINTS(HP:0006247), SCLEROTIC VERTEBRAL ENDPLATES(HP:0004576), WADDLING GAIT(HP:0002515), METAPHYSEAL WIDENING(HP:0003016), ENLARGED CAPITAL FEMORAL EPIPHYSES(HP:0003371), METABOLISM ABNORMALITY(HP:0001939), MUSCLE WEAKNESS(HP:0001324), OSTEOARTHRITIS(HP:0002758)]
8842	PROM1	[ABNORMAL COLOR VISION(HP:0000551), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL MACULAR RETINAL PIGMENT EPITHELIAL MOTTLING(HP:0007793), GRADUAL PROGRESSIVE LOSS OF CENTRAL VISUAL ACUITY(HP:0007693), MACULAR DYSTROPHY(HP:0007754), CENTRAL SCOTOMA(HP:0000603)]
8869	ST3GAL5	[GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FEEDING DIFFICULTIES(HP:0002022), VISUAL LOSS(HP:0000572), ABSENT SPEECH DEVELOPMENT(HP:0001344), MUSCULAR HYPOTONIA(HP:0001252), OPTIC ATROPHY(HP:0000648), DEVELOPMENTAL STAGNATION AT ONSET OF SEIZURES(HP:0006834), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), HYPOREFLEXIA(HP:0001265), IRRITABILITY(HP:0000737), DEVELOPMENTAL REGRESSION(HP:0002376), NON-PURPOSEFUL ARM MOVEMENTS, CHOREOATHETOID-LIKE(HP:0007337), LOWER LIMB HYPERREFLEXIA(HP:0002395), DIFFUSE BRAIN ATROPHY(HP:0002283)]
8878	SQSTM1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), DEAFNESS(HP:0000404), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), AGE OF ONSET(HP:0003674), VERTEBRAL COMPRESSION FRACTURES(HP:0002953), CRANIAL NERVE PARALYSIS(HP:0006824), OSTEOSCLEROSIS(HP:0010738), HETEROGENEOUS(HP:0001425), ARTHROPATHY(HP:0003040), HYDROXYPROLINURIA(HP:0003080), FRACTURES OF THE LONG BONES(HP:0003084), PARAPARESIS(HP:0002385), BRAIN STEM COMPRESSION(HP:0002512), ABNORMALITY OF THE PELVIS(HP:0002644), BONE PAIN(HP:0002653), LONG-TRACT SIGNS(HP:0002423), TETRAPARESIS(HP:0002273)]
8890	EIF2B4	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MACROCEPHALY(HP:0000256), LETHARGY(HP:0001254), COGNITIVE DEFICITS(HP:0002337), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), HYPOMYELINATION(HP:0003429), LEUKOENCEPHALOPATHY, SEVERE(HP:0007073), SPASTICITY(HP:0001257), MEMORY LOSS(HP:0002081), ONSET IN ADULTHOOD(HP:0003581), CESSATION OF HEAD GROWTH IN AFFECTED INFANTS(HP:0004485), DELUSIONS(HP:0000746), PRIMARY GONADAL INSUFFICIENCY(HP:0008193), PERSONALITY CHANGES(HP:0000751), BLINDNESS(HP:0000618), APATHY(HP:0000741), DEVELOPMENTAL REGRESSION(HP:0002376), PREMATURE OVARIAN FAILURE(HP:0008209), GAIT DISTURBANCE(HP:0001288), SECONDARY AMENORRHEA(HP:0000869), EMOTIONAL LABILITY(HP:0000712), DECREASED SERUM PROGESTERONE(HP:0008233), FEVER(HP:0001945), DEMYELINATION(HP:0003381), LATE ONSET(HP:0003584)]
8891	EIF2B3	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MACROCEPHALY(HP:0000256), LETHARGY(HP:0001254), COGNITIVE DEFICITS(HP:0002337), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), HYPOMYELINATION(HP:0003429), LEUKOENCEPHALOPATHY, SEVERE(HP:0007073), SPASTICITY(HP:0001257), MEMORY LOSS(HP:0002081), ONSET IN ADULTHOOD(HP:0003581), CESSATION OF HEAD GROWTH IN AFFECTED INFANTS(HP:0004485), DELUSIONS(HP:0000746), PRIMARY GONADAL INSUFFICIENCY(HP:0008193), PERSONALITY CHANGES(HP:0000751), BLINDNESS(HP:0000618), APATHY(HP:0000741), DEVELOPMENTAL REGRESSION(HP:0002376), PREMATURE OVARIAN FAILURE(HP:0008209), GAIT DISTURBANCE(HP:0001288), SECONDARY AMENORRHEA(HP:0000869), EMOTIONAL LABILITY(HP:0000712), DECREASED SERUM PROGESTERONE(HP:0008233), FEVER(HP:0001945), DEMYELINATION(HP:0003381), LATE ONSET(HP:0003584)]
8892	EIF2B2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MACROCEPHALY(HP:0000256), LETHARGY(HP:0001254), COGNITIVE DEFICITS(HP:0002337), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), HYPOMYELINATION(HP:0003429), LEUKOENCEPHALOPATHY, SEVERE(HP:0007073), SPASTICITY(HP:0001257), MEMORY LOSS(HP:0002081), ONSET IN ADULTHOOD(HP:0003581), CESSATION OF HEAD GROWTH IN AFFECTED INFANTS(HP:0004485), DELUSIONS(HP:0000746), PRIMARY GONADAL INSUFFICIENCY(HP:0008193), PERSONALITY CHANGES(HP:0000751), BLINDNESS(HP:0000618), APATHY(HP:0000741), DEVELOPMENTAL REGRESSION(HP:0002376), PREMATURE OVARIAN FAILURE(HP:0008209), GAIT DISTURBANCE(HP:0001288), SECONDARY AMENORRHEA(HP:0000869), EMOTIONAL LABILITY(HP:0000712), DECREASED SERUM PROGESTERONE(HP:0008233), FEVER(HP:0001945), DEMYELINATION(HP:0003381), LATE ONSET(HP:0003584)]
8893	EIF2B5	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MACROCEPHALY(HP:0000256), LETHARGY(HP:0001254), COGNITIVE DEFICITS(HP:0002337), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), HYPOMYELINATION(HP:0003429), LEUKOENCEPHALOPATHY, SEVERE(HP:0007073), SPASTICITY(HP:0001257), MEMORY LOSS(HP:0002081), ONSET IN ADULTHOOD(HP:0003581), CESSATION OF HEAD GROWTH IN AFFECTED INFANTS(HP:0004485), DELUSIONS(HP:0000746), PRIMARY GONADAL INSUFFICIENCY(HP:0008193), PERSONALITY CHANGES(HP:0000751), BLINDNESS(HP:0000618), APATHY(HP:0000741), DEVELOPMENTAL REGRESSION(HP:0002376), PREMATURE OVARIAN FAILURE(HP:0008209), GAIT DISTURBANCE(HP:0001288), SECONDARY AMENORRHEA(HP:0000869), EMOTIONAL LABILITY(HP:0000712), DECREASED SERUM PROGESTERONE(HP:0008233), FEVER(HP:0001945), DEMYELINATION(HP:0003381), LATE ONSET(HP:0003584)]
8898	MTMR2	[TALIPES EQUINOVARUS(HP:0001762), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PROXIMAL MUSCLE WEAKNESS(HP:0003701), DISTAL AMYOTROPHY(HP:0003693), AGE OF ONSET(HP:0003674), ABNORMAL AUDITORY EVOKED POTENTIALS(HP:0006958), MOTOR RETARDATION(HP:0001270), HETEROGENEOUS(HP:0001425), FACIAL MUSCLE WEAKNESS(HP:0010628), IRREGULAR LOOPS AND FOCAL FOLDING OF MYELIN SHEATHS(HP:0007208), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), SEVERELY DECREASED MOTOR NERVE CONDUCTION VELOCITY(HP:0006907), SCOLIOSIS(HP:0002650)]
8910	SGCE	[REDUCED PENETRANCE(HP:0003830), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TORTICOLLIS(HP:0000473), ANXIETY(HP:0000739), AGORAPHOBIA(HP:0000756), TREMOR(HP:0001337), MYOCLONUS(HP:0001336), DEPRESSION(HP:0000716), ONSET IN CHILDHOOD OR EARLY ADOLESCENCE(HP:0003604), WRITER'S CRAMP(HP:0002356), OBSESSIVE-COMPULSIVE DISORDER(HP:0000722)]
8929	PHOX2B	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE MOUTH(HP:0000153), ENTEROCOLITIS(HP:0004387), CONSTIPATION(HP:0002019), ABDOMINAL DISTENTION(HP:0003270), CONGENITAL MEGACOLON(HP:0002251), BARIUM ENEMA SHOWS TRANSITION ZONE BETWEEN AGANGLIONIC CONTRACTED SEGMENT AND DILATED PROXIMAL BOWEL(HP:0002606), LOW-SET EARS(HP:0000369), METABOLISM ABNORMALITY(HP:0001939), NEUROLOGICAL ABNORMALITY(HP:0000707), VOMITING(HP:0002013), POSTERIORLY ROTATED EARS(HP:0000358), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
9049	AIP	[HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), COARSE FACIAL FEATURES(HP:0000280), CARDIOMYOPATHY(HP:0001638), ELEVATED PLASMA ACTH(HP:0003154), OSTEOPOROSIS(HP:0000939), PSYCHOTIC MENTATION(HP:0001345), KIDNEY STONES(HP:0000787), VERTEBRAL COMPRESSION FRACTURES(HP:0002953), CODFISH VERTEBRAE(HP:0002952), GROWTH ABNORMALITY(HP:0001507), ABNORMALITY OF THE BREASTS(HP:0000769), KYPHOSIS(HP:0002808), SOMATIC MUTATION(HP:0001428), MOOD ALTERATIONS(HP:0001296), AMYOTROPHY(HP:0003202), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), HIRSUTISM(HP:0001007), OLIGOMENORRHEA(HP:0000876), PURPLISH STRIAE(HP:0001066), RUDDY FACE AND NECK(HP:0001068), ECCHYMOSES(HP:0000978), MENSTRUAL IRREGULARITIES(HP:0000858), PURPURA(HP:0000979), EDEMA(HP:0000969), GLUCOSE INTOLERANCE(HP:0000833), HYPOKALEMIA(HP:0002900), THIN SKIN(HP:0000963), PROLACTIN-SECRETING PITUITARY ADENOMA(HP:0006767), ACROMEGALY(HP:0000845)]
9051	PSTPIP1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE ABDOMEN(HP:0001438), SEPTIC ARTHRITIS(HP:0003095), ACNE(HP:0001061), PANCYTOPENIA(HP:0001876)]
9056	SLC7A7	[DELAYED SKELETAL MATURATION(HP:0002750), INCREASED SERUM FERRITIN(HP:0003281), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NAUSEA(HP:0002018), HIGHLY VARIABLE PHENOTYPE(HP:0003815), OSTEOPOROSIS(HP:0000939), ANEMIA(HP:0001903), LEUKOPENIA(HP:0001882), MUSCULAR HYPOTONIA(HP:0001252), PANCREATITIS(HP:0001733), THIN HAIR(HP:0002237), THROMBOCYTOPENIA(HP:0001873), COMA(HP:0001259), DIARRHEA(HP:0002014), VOMITING(HP:0002013), SPLENOMEGALY(HP:0001744), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508), ONSET IN INFANCY(HP:0003576), RESPIRATORY INSUFFICIENCY(HP:0002093), OROTICACIDURIA(HP:0003218), END STAGE RENAL DISEASE(HP:0003774), TRUNCAL OBESITY(HP:0001956), AMYOTROPHY(HP:0003202), HEPATOMEGALY(HP:0002240), CHRONIC RENAL FAILURE(HP:0000101), SPARSE, FINE HAIR(HP:0002291), INCREASED SERUM LACTATE(HP:0002151), MUSCLE WEAKNESS(HP:0001324), CUTIS LAXA(HP:0000973), PSYCHOTIC EPISODES(HP:0000725)]
9060	PAPSS2	[KYPHOSCOLIOSIS(HP:0002751), FIBULAR OVERGROWTH(HP:0003099), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GENU VALGUM(HP:0002857), LATE OSSIFYING EPIPHYSES(HP:0002663), PLATYSPONDYLY(HP:0000926), SHORT, BOWED LOWER LIMBS(HP:0005049), MILD BRACHYDACTYLY(HP:0001189), NEUROLOGICAL ABNORMALITY(HP:0000707), SPONDYLOEPIMETAPHYSEAL DYSPLASIA(HP:0002651), SHORT STATURE, DISPROPORTIONATE(HP:0003498), IRREGULAR VERTEBRAL ENDPLATES(HP:0003301), GENU VARUM(HP:0002970), OSTEOARTHRITIS(HP:0002758)]
9076	CLDN1	[DRY SKIN(HP:0000958), JAUNDICE(HP:0000952), PARAKERATOSIS(HP:0001036), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ICHTHYOSIS(HP:0000955), OLIGODONTIA(HP:0000677), ALOPECIA(HP:0001596), CONGENITAL ICHTHYOSIS(HP:0007484), HYPOTRICHOSIS(HP:0001006), HEPATOMEGALY(HP:0002240), SPARSE EYELASHES(HP:0000653), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), HYPODONTIA(HP:0000668), HEMATOLOGICAL ABNORMALITY(HP:0001871)]
9095	TBX19	[ADRENAL HYPOPLASIA(HP:0000835), PLASMA CORTISOL LOW(HP:0008163), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FASTING HYPOGLYCEMIA(HP:0003162)]
9103	FCGR2C	[PLATELET ANTIBODY POSITIVE(HP:0003454), THROMBOCYTOPENIA(HP:0001873), BLEEDING DIATHESIS(HP:0001892)]
9129	PRPF3	[CONSTRICTED RETINAL ARTERIOLES(HP:0008043), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NIGHT BLINDNESS(HP:0000662), PROGRESSIVE VISUAL FIELD DEFECTS(HP:0007987)]
9132	KCNQ4	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
9150	CTDP1	[TALIPES EQUINOVARUS(HP:0001762), KYPHOSCOLIOSIS(HP:0002751), NEUROPATHY(HP:0003407), PES CAVUS(HP:0001761), RHABDOMYOLYSIS, ACUTE(HP:0008942), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CHOREA(HP:0002072), CEREBRAL ATROPHY(HP:0002059), COGNITIVE DEFICITS(HP:0002337), CONGENITAL CATARACT(HP:0000519), ATAXIA(HP:0001251), GENU RECURVATUM(HP:0002816), PROMINENT MIDFACE(HP:0000310), DEVELOPMENTAL RETARDATION(HP:0001263), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003431), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), ABNORMALITY OF THE TEETH(HP:0000164), MOTOR RETARDATION(HP:0001270), FACIAL DYSMORPHISM(HP:0001999), ONSET IN INFANCY(HP:0003576), DECREASED BODY HEIGHT(HP:0004322), ECTRODACTYLY (HANDS)(HP:0001171), DECREASED SERUM ESTRADIOL(HP:0008214), AXONAL DEGENERATION(HP:0000764), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), HYPOMYELINATION ON NERVE BIOPSY(HP:0007182), DEMYELINATION(HP:0003381), MICROCORNEA(HP:0000482)]
9152	SLC6A5	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EXAGGERATED STARTLE RESPONSE(HP:0002267), HYPERTONICITY(HP:0002388), INGUINAL HERNIA(HP:0000023), MYOCLONUS(HP:0001336), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), UMBILICAL HERNIA(HP:0001537), DISLOCATED HIPS(HP:0002827), FREQUENT FALLS(HP:0002359), ONSET IN INFANCY(HP:0003576)]
9163	AMLCR2	[FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
9180	OSMR	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PRURITUS(HP:0000989), NEUROLOGICAL ABNORMALITY(HP:0000707), LATTICE CORNEAL DYSTROPHY(HP:0001149), CUTIS LAXA(HP:0000973), ONSET IN THIRD DECADE(HP:0003585)]
9211	LGI1	[AGE OF ONSET(HP:0003674), REDUCED PENETRANCE(HP:0003830), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SIMPLE PARTIAL SEIZURES(HP:0002349), COMPLEX PARTIAL SEIZURES(HP:0002384), SECONDARY GENERALIZED TONIC-CLONIC SEIZURES(HP:0002602), EPILEPSY(HP:0001275), CEREBROVASCULAR ACCIDENT(HP:0002452)]
9215	LARGE	[MUSCLE WEAKNESS, PREDOMINANTLY PROXIMAL(HP:0009075), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL MALFORMATION(HP:0007901), MENTAL RETARDATION, PROFOUND(HP:0002187), EXCESSIVE DAYTIME SLEEPINESS(HP:0002189), MICROPHTHALMOS(HP:0000568), MUSCULAR DYSTROPHY, CONGENITAL(HP:0003793), CATARACT(HP:0000518), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), DETACHED RETINA(HP:0000541), NEURONAL MIGRATION DISORDER(HP:0002269), DANDY-WALKER MALFORMATION(HP:0001305), OPTIC NERVE HYPOPLASIA(HP:0000609), CONGENITAL CONTRACTURES(HP:0002803), ABNORMALITY OF THE GENITAL TRACT(HP:0000078), PACHYGYRIA(HP:0001302), LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS(HP:0003483), BABINSKI SIGN(HP:0003487), RENAL DYSPLASIA(HP:0000110), CONGENITAL MUSCULAR DYSTROPHY(HP:0003741), COLOBOMA(HP:0000589), THICK CEREBRAL CORTEX(HP:0006891), MENINGOENCEPHALOCELE(HP:0006888), FACIAL MUSCLE WEAKNESS, MILD(HP:0000353), CAMPTODACTYLY (HANDS)(HP:0010563), EXTERNAL AUDITORY CANAL ATRESIA(HP:0000413), HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079), MICROTIA(HP:0000393), ANAL ATRESIA(HP:0002023), TYPE II LISSENCEPHALY(HP:0007260), DECREASED ELECTRORETINOGRAM (ERG)(HP:0000654), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), NYSTAGMUS, HORIZONTAL(HP:0000666), OCCIPITAL ENCEPHALOCELE(HP:0002085), ACHILLES TENDON CONTRACTURES, MILD(HP:0005031), HYPOPLASIA OF THE BRAINSTEM(HP:0002365), AGENESIS OF CORPUS CALLOSUM(HP:0001274), PETERS ANOMALY(HP:0000659), CLEFT LIP(HP:0000204), DECREASED BODY HEIGHT(HP:0004322), ANTERIOR CHAMBER MALFORMATION(HP:0007699), VENTRICULOMEGALY(HP:0002119), LOWER LIMB HYPERREFLEXIA(HP:0002395), INCREASED CREATINE KINASE(HP:0003078), HYDROCEPHALUS(HP:0000238), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), RETINAL DYSPLASIA(HP:0007973), GLAUCOMA(HP:0000501), ONSET WITHIN FIRST 6 MONTHS OF LIFE(HP:0003600), MICROCEPHALY(HP:0000252), INCREASED SERUM CREATINE KINASE(HP:0002147), MEGALOCORNEA(HP:0000485)]
9217	VAPB	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), FASCICULATIONS(HP:0002380), HYPOREFLEXIA(HP:0001265), EMG SHOWS NEUROGENIC ABNORMALITIES(HP:0002178)]
9241	NOG	[NARROW FACE(HP:0000275), SHORT FEET(HP:0001766), TRANSVERSE PALMAR CREASES(HP:0000954), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROXIMALLY PLACED THUMB(HP:0009623), HUMERAL RADIAL SYNOSTOSIS(HP:0003936), COLUMELLA, LOW HANGING(HP:0009765), HYPOPLASTIC/SHORT 1ST METACARPAL(HP:0010034), APLASTIC/HYPOPLASTIC FINGERNAILS(HP:0008384), SPINAL CANAL STENOSIS(HP:0003416), FUSION OF MIDPHALANGEAL JOINTS(HP:0006187), BROAD PHALANGES OF THE THUMB(HP:0009651), ENLARGEMENT OF THE COSTOCHONDRAL JUNCTION(HP:0000920), LONG NOSE(HP:0003189), FUSED CERVICAL VERTEBRAE(HP:0002949), HYPOPLASTIC NASAL ALAE(HP:0000430), PROXIMAL SYMPHALANGISM(HP:0006152), HYPERMETROPIA(HP:0000540), CUBITUS VALGUS(HP:0002967), CUTANEOUS SYNDACTYLY OF THE TOES(HP:0010621), METACARPOPHALANGEAL SYNOSTOSES(HP:0005880), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), APLASIA OF THE DISTAL INTERPHALANGEAL CREASES(HP:0001032), CLINODACTYLY OF HANDS(HP:0001157), HYPOPLASTIC/SMALL HALLUX(HP:0010109), PROGRESSIVE CONDUCTIVE DEAFNESS(HP:0008607), CONGENITAL STAPES ANKYLOSIS(HP:0007943), APLASTIC/HYPOPLASTIC TOENAILS(HP:0010624), LIMITED NECK RANGE OF MOTION(HP:0000466), DISLOCATED RADIAL HEAD(HP:0003083), 2-3 TOE SYNDACTYLY(HP:0004691), SHORT PHILTRUM(HP:0000322), PECTUS EXCAVATUM(HP:0000767), APLASIA/HYPOPLASIA OF THE MIDDLE PHALANGES OF THE HAND(HP:0009843), HYPOPLASTIC SPINAL PROCESSES(HP:0008460), WADDLING GAIT(HP:0002515), SHORT STERNUM(HP:0000879), APLASIA/HYPOPLASIA OF THE MIDDLE PHALANGES OF THE TOES(HP:0010194), THIN VERMILLION BORDER OF UPPER LIP(HP:0000231), ABSENT DISTAL PHALANGES(HP:0005807), HYPOPLASTIC NASAL SEPTUM(HP:0005104), SHORT HUMERI(HP:0003014), SYNOSTOSIS INVOLVING THE CARPAL BONES(HP:0009702), HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS(HP:0009816), DISTAL SYMPHALANGISM(HP:0001204), SENSORINEURAL HEARING LOSS, MILD TO MODERATE(HP:0008611), APLASIA/HYPOPLASIA OF THE DISTAL PHALANGES OF THE TOES(HP:0010185), SYNOSTOSIS INVOLVING TARSAL BONES(HP:0008368), CUTANEOUS SYNDACTYLY OF THE FINGERS(HP:0010554), STRABISMUS(HP:0000486), BROAD HALLUX(HP:0010055)]
9244	CRLF1	[PES PLANUS(HP:0001763), KYPHOSCOLIOSIS(HP:0002751), BILATERAL CAMPTODACTYLY(HP:0005617), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE SKIN(HP:0000951), GENERALIZED SEIZURES(HP:0002197), HIGH-ARCHED PALATE(HP:0000156), OPISTHOTONUS(HP:0002179), NASAL SPEECH(HP:0001611), BROAD NOSE(HP:0000445), FLATTENED NASAL BRIDGE(HP:0000425), EXCESSIVE SALIVATION(HP:0003781), LIMITED ELBOW EXTENSION(HP:0001377), LONG PHILTRUM(HP:0000343), CLINODACTYLY OF HANDS(HP:0001157), ABNORMALITY OF THE ABDOMEN(HP:0001438), SMALL HANDS(HP:0001165), ABNORMALITY OF THE NECK(HP:0000464), NARES, ANTEVERTED(HP:0000463), TAPERED FINGERS(HP:0001182), CHUBBY CHEEKS(HP:0004427)]
9247	GCM2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPOPARATHYROIDISM(HP:0000829), CATARACT(HP:0000518), SEIZURES(HP:0001250), INTRACEREBRAL CALCIFICATION ON CT SCAN(HP:0005806), HYPOCALCEMIA(HP:0002901), HYPERPHOSPHATEMIA(HP:0002905)]
9289	GPR56	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MENTAL RETARDATION, MODERATE TO SEVERE(HP:0002316), TRUNCAL ATAXIA(HP:0002078), ESOTROPIA(HP:0000565), HYPERREFLEXIA(HP:0001347), SEIZURES(HP:0001250), MENTAL RETARDATION, MODERATE(HP:0002342), DEVELOPMENTAL RETARDATION(HP:0001263), HYPERTONIA(HP:0001276), POLYMICROGYRIA, MOST SEVERE IN THE FRONTOPARIETAL REGIONS(HP:0007095), POLYMICROGYRIA, ANTERIOR TO POSTERIOR GRADIENT(HP:0006821), HYPOPLASIA OF THE BRAINSTEM(HP:0002365), AREAS OF DYSMYELINATION ON MRI(HP:0007217), BROAD-BASED GAIT(HP:0002136), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), EXOTROPIA(HP:0000577), CEREBELLAR HYPOPLASIA(HP:0001321)]
9321	TRIP11	[ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MICROMELIA(HP:0002983), HYDROPS FETALIS(HP:0001789), SHORT RADIUS(HP:0002995), SHORT TRUNK(HP:0001524), NASAL HYPOPLASIA(HP:0003196), BEADED RIBS(HP:0000923), FLATTENED NASAL BRIDGE(HP:0000425), STILLBIRTH(HP:0001624), HYPOPLASTIC ISCHIA(HP:0003175), ABNORMALITY OF THE HAND(HP:0001155), HYPOPLASTIC SCAPULAE(HP:0000882), UNOSSIFIED VERTEBRAL BODIES(HP:0004606), DECREASED SKULL OSSIFICATION(HP:0004331), SHORT NECK(HP:0000470), NARES, ANTEVERTED(HP:0000463), HYDROPS(HP:0000990), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), PROTUBERANT ABDOMEN(HP:0001538), POLYHYDRAMNIOS(HP:0001561), MARKED MICROMELIC DWARFISM(HP:0003509), BARREL-SHAPED CHEST(HP:0001552)]
9333	TGM5	[ATYPICAL SCARRING(HP:0000987), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), ABNORMALITY OF THE NAILS(HP:0001597), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
9342	SNAP29	[NEUROPATHY(HP:0003407), ICHTHYOSIS(HP:0000955), LONG FACE(HP:0000276), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOPLASTIC OPTIC DISKS(HP:0007766), HYPERTELORISM(HP:0000316), FAILURE TO THRIVE(HP:0001508), POLYNEUROPATHY(HP:0001271), BROAD, FLAT NASAL ROOT(HP:0005284), PACHYGYRIA(HP:0001302), AREFLEXIA(HP:0001284), CORTICAL DYSPLASIA(HP:0002539), MRI SHOWS DEFECTS OF THE CORPUS CALLOSUM(HP:0007323), PALMOPLANTAR KERATODERMA(HP:0000982), POOR HEAD CONTROL(HP:0002421), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), MICROCEPHALY, PROGRESSIVE(HP:0000253), ONSET IN FIRST MONTHS OF LIFE(HP:0003594), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), MAJOR DEVELOPMENTAL MILESTONES ARE NOT ATTAINED(HP:0006885)]
9365	KL	[ANGIOID STREAKS(HP:0001102), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CALCINOSIS(HP:0003761), TAURODONTIA(HP:0000679), ABNORMALITY OF THE SKIN(HP:0000951), THIN DENTAL ENAMEL(HP:0003770), PULP STONES(HP:0003771), VASCULAR CALCIFICATIONS(HP:0004934), CONJUNCTIVAL WHITISH 'SALT-LIKE' DEPOSITS(HP:0007799), DECREASED RENAL TUBULAR PHOSPHATE EXCRETION(HP:0005572), INCREASED RENAL TUBULAR PHOSPHATE REABSORPTION(HP:0005571), HYPERPHOSPHATEMIA(HP:0002905), ONSET IN FIRST DECADE(HP:0003582)]
9380	GRHPR	[CALCIUM OXALATE UROLITHIASIS(HP:0008700), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPEROXALURIA(HP:0003159)]
9381	OTOF	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABSENCE OF ACOUSTIC MIDDLE EAR MUSCLE REFLEXES(HP:0008595), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), ABSENT BRAINSTEM AUDITORY RESPONSES(HP:0004463)]
9401	RECQL4	[JOINT DISLOCATION(HP:0001373), LONG FACE(HP:0000276), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), EPICANTHUS(HP:0000286), PERINEAL FISTULA(HP:0004871), LIMITED ELBOW MOVEMENT(HP:0002996), SHORT ULNA(HP:0002998), APLASIA OF THE THUMB(HP:0009777), CRYPTORCHIDISM(HP:0000028), RADIAL APLASIA/HYPOPLASIA(HP:0005718), HYPOPLASTIC/SMALL THUMB(HP:0009778), MICROPHTHALMOS(HP:0000568), STIFF INTERPHALANGEAL JOINTS(HP:0005198), LIMITED KNEE MOVEMENT(HP:0005192), HYPERTELORISM(HP:0000316), PREMATURE GRAYING OF HAIR(HP:0002216), SPINA BIFIDA OCCULTA(HP:0003298), ANOMALOUS SPLENOPORTAL VENOUS SYSTEM(HP:0005201), MANDIBULAR PROGNATHIA(HP:0000303), MOTTLED OR STIPPLED PIGMENTATION(HP:0007584), SPARSE HAIR(HP:0008070), ABNORMALITY OF THE KIDNEYS(HP:0000077), POIKILODERMA(HP:0001029), ABNORMALITIES OF THE VERTEBRAE(HP:0003468), PATELLAR HYPOPLASIA(HP:0003065), ABNORMALITY OF THE NAILS(HP:0001597), ALOPECIA(HP:0001596), SMALL CHIN(HP:0000331), FOREARM REDUCTION DEFECTS(HP:0006368), BLEPHAROPHIMOSIS(HP:0000581), ANTERIORLY PLACED ANUS(HP:0001545), LOW-SET, POSTERIORLY ROTATED EARS(HP:0000368), ABSENT OR HYPOPLASTIC RADII(HP:0004989), ABSENCE OF PERMANENT TEETH(HP:0006349), ULNAR BOWING(HP:0003031), FLATTENED FOREHEAD(HP:0004425), TALIPES EQUINOVARUS(HP:0001762), DELAYED DENTITION(HP:0000684), RECTOVAGINAL FISTULA(HP:0000143), SMALL FEET(HP:0001764), SQUAMOUS CELL CARCINOMA(HP:0002860), HYPOGONADISM(HP:0000135), HEARING LOSS, CONDUCTIVE(HP:0000405), SUPERNUMERARY TEETH(HP:0000672), HIGH-ARCHED PALATE(HP:0000156), ANAL ATRESIA(HP:0002023), OSTEOPOROSIS(HP:0000939), MICRODONTIA(HP:0000691), NASAL HYPOPLASIA(HP:0003196), CLEFT PALATE(HP:0000175), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), FRONTAL BOSSING(HP:0002007), MENTAL RETARDATION(HP:0001249), ANNULAR PANCREAS(HP:0001734), MICROSTOMIA(HP:0000160), CARDIAC MALFORMATION(HP:0002564), PROMINENT NASAL BRIDGE(HP:0000426), HYPOPLASTIC NASAL ALAE(HP:0000430), RIB FUSION(HP:0000902), AGENESIS OF CORPUS CALLOSUM(HP:0001274), DERMAL ATROPHY(HP:0004334), TELANGIECTASIA(HP:0001009), BIFID UVULA(HP:0000193), DECREASED BODY HEIGHT(HP:0004322), SMALL HANDS(HP:0001165), CRANIOSYNOSTOSIS (CORONAL, SAGITTAL, LAMBDOID SUTURES)(HP:0002685), PHOTOSENSITIVITY(HP:0000992), ABSENT CARPALS, METACARPALS, AND PHALANGES(HP:0005056), POLYMICROGYRIA(HP:0002126), CHOANAL STENOSIS(HP:0000452), BASAL CELL CARCINOMA(HP:0002671), MICROGNATHIA(HP:0000210), OSTEOGENIC SARCOMA(HP:0002669), HYDROCEPHALUS(HP:0000238), LIMITED SHOULDER MOVEMENT(HP:0006467), HUMERAL HYPOPLASIA(HP:0005792), GLAUCOMA(HP:0000501), SCOLIOSIS(HP:0002650), SYNOSTOSIS INVOLVING THE CARPAL BONES(HP:0009702), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), MIDFACE CAPILLARY HEMANGIOMA(HP:0007452), BRACHYTURRICEPHALY(HP:0000244), STRABISMUS(HP:0000486), JUVENILE ZONULAR CATARACTS(HP:0007713), MICROCORNEA(HP:0000482)]
9420	CYP7B1	[SPASTIC GAIT(HP:0002064), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), URINARY INCONTINENCE(HP:0000020), HYPERREFLEXIA(HP:0001347), LOWER LIMB SPASTICITY(HP:0002061), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), DECREASED VIBRATORY SENSE IN THE LOWER LIMBS(HP:0002166), AGE OF ONSET(HP:0003674), PROGRESSIVE DISORDER(HP:0003676), DYSARTHRIA(HP:0001260), SPASTIC PARAPLEGIA(HP:0001258)]
9445	ITM2B	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), POSTERIOR POLAR CATARACT(HP:0001115), RIGIDITY(HP:0002063), AGE OF ONSET(HP:0003674), ATAXIA(HP:0001251), METABOLISM ABNORMALITY(HP:0001939), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), PSYCHOSIS(HP:0000709), INTENTION TREMOR(HP:0002080), HEARING LOSS(HP:0000365), HYPERTONIA(HP:0001276), DEMENTIA(HP:0000726)]
9451	EIF2AK3	[DEFECTIVE, IRREGULAR TARSAL OSSIFICATION(HP:0008134), DIABETES MELLITUS(HP:0000819), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BOWING OF THE LEGS(HP:0002979), HYPERTELORISM(HP:0000316), IRREGULAR VERTEBRAL ENDPLATES(HP:0003301), GENU VARUM(HP:0002970), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), REDUCED PANCREATIC BETA CELLS(HP:0006274), GENU VARUS(HP:0003052), PREAURICULAR SINUS(HP:0004467), RENAL FAILURE(HP:0000083), HEPATOMEGALY(HP:0002240), UPSLANTING PALPEBRAL FISSURES(HP:0000582), BARREL-SHAPED CHEST(HP:0001552), CARPAL BONE HYPOPLASIA(HP:0001498), GENU VALGUM(HP:0002857), DISPROPORTIONATELY SHORT MIDDLE PHALANGES(HP:0006110), NARROW ILIAC WINGS(HP:0002868), HIGH-ARCHED PALATE(HP:0000156), OSTEOPOROSIS(HP:0000939), PLATYSPONDYLY(HP:0000926), SMALL, FLATTENED EPIPHYSES(HP:0005051), DEVELOPMENTAL RETARDATION(HP:0001263), DISLOCATED HIPS(HP:0002827), FLATTENED NASAL BRIDGE(HP:0000425), HYPERTONIA(HP:0001276), COXA VALGA(HP:0002673), CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230), DECREASED BODY HEIGHT(HP:0004322), EPIPHYSEAL DYSPLASIA(HP:0002656), LORDOSIS(HP:0002939), SMALL, IRREGULAR CARPAL CENTERS(HP:0006227), SMALL, IRREGULAR CARPALS(HP:0006072), MULTIPLE EPIPHYSEAL DYSPLASIA(HP:0002654), MICROCEPHALY(HP:0000252), EARLY ONSET(HP:0003593)]
9459	ARHGEF6	[MENTAL RETARDATION, NONSPECIFIC(HP:0002543), HEARING LOSS, SENSORINEURAL(HP:0000407), X-LINKED RECESSIVE INHERITANCE(HP:0001419)]
9469	CHST3	[DELAYED SKELETAL MATURATION(HP:0002750), KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DELAYED GROSS MOTOR DEVELOPMENT(HP:0002194), LIMITED HIP ABDUCTION/EXTENSION(HP:0008810), PROGRESSIVE INTERVERTEBRAL SPACE NARROWING(HP:0004622), PROGRESSIVE ENDPLATE IRREGULARITY(HP:0004628), RHIZOMELIC SHORTENING(HP:0002968), CUBITUS VALGUS(HP:0002967), JOINT CONTRACTURES, ONSET SCHOOL AGE(HP:0005660), CAMPTODACTYLY (FEET)(HP:0001836), SYMPHALANGISM OF THE 5TH FINGER(HP:0004218), WADDLING GAIT(HP:0002515), SHORT HUMERI(HP:0003014), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), WIDE INTERMAMILLARY DISTANCE(HP:0006610), BARREL-SHAPED CHEST(HP:0001552), WIDELY SPACED TEETH(HP:0000687), TALIPES EQUINOVARUS(HP:0001762), DELAYED DENTITION(HP:0000684), TRANSVERSE PALMAR CREASES(HP:0000954), CAMPTODACTYLY (HANDS)(HP:0010563), JOINT DISLOCATIONS IN YOUNG ADULT(HP:0005837), GENU VALGUM(HP:0002857), CORONAL CLEFT VERTEBRAE(HP:0003417), MICRODONTIA(HP:0000691), DEVIATION OF THE 5TH FINGER(HP:0009179), ARTHRALGIA(HP:0002829), CARDIAC MALFORMATION(HP:0002564), HYPOPLASIA OF THE DISTAL PHALANGES OF THE HAND(HP:0009882), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), FIXED ELBOW FLEXION(HP:0006471), SPONDYLOEPIPHYSEAL DYSPLASIA(HP:0002655)]
9496	TBX4	[PES PLANUS(HP:0001763), LESSER TROCHANTER HYPOPLASIA(HP:0008801), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PATELLAR APLASIA(HP:0006443), HIGH-ARCHED PALATE(HP:0000156), DISLOCATION OF PATELLA(HP:0002999), CLEFT PALATE(HP:0000175), FLAT, WIDE CAPITAL FEMORAL EPIPHYSES(HP:0008784), GAP BETWEEN FIRST AND SECOND TOES(HP:0001852), PATELLAR HYPOPLASIA(HP:0003065), ABNORMALITY OF THE NAILS(HP:0001597), MICROGNATHIA(HP:0000210)]
9499	MYOT	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ACHILLES TENDON CONTRACTURES(HP:0001771), CARDIOMYOPATHY(HP:0001638), DISTAL MUSCLE WEAKNESS OCCURS LATER(HP:0003810), MUSCLE WEAKNESS, DISTAL, PROGRESSIVE(HP:0009063), DISTAL AMYOTROPHY(HP:0003693), SHOULDER GIRDLE MUSCLE WEAKNESS(HP:0003547), LIMB-GIRDLE MUSCULAR DYSTROPHY(HP:0006785), ABSENT ANKLE REFLEXES(HP:0003438), SLOW PROGRESSION(HP:0003677), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), RIMMED VACUOLES(HP:0003805), MUSCULAR DYSTROPHY(HP:0003560), POLYNEUROPATHY(HP:0001271), ONSET IN ADULTHOOD(HP:0003581), ABNORMAL MUSCLE FIBERS WITH AMORPHOUS, GRANULAR, OR HYALINE DEPOSITS(HP:0003790), MUSCLE STIFFNESS OR ACHING(HP:0009014), HETEROGENEOUS(HP:0001425), HIP GIRDLE MUSCLE WEAKNESS(HP:0008999), PROXIMAL MUSCLE INVOLVEMENT MAY OCCUR(HP:0003475), HYPOREFLEXIA/AREFLEXIA IN LOWER LIMBS(HP:0006861), INCREASED CREATINE KINASE(HP:0003078), NASAL, DYSARTHIC SPEECH(HP:0008376), INCREASED SERUM CREATINE KINASE(HP:0002147), MUSCLE BIOPSY SHOWS MYOFIBRILLAR MYOPATHY(HP:0003715), ONSET IN ADOLESCENCE(HP:0003590)]
9509	ADAMTS2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), EPICANTHUS(HP:0000286), INGUINAL HERNIA(HP:0000023), WIDE ANTERIOR FONTANEL(HP:0000260), SPONTANEOUS NEONATAL PNEUMOTHORAX(HP:0004876), JOINT LAXITY(HP:0001388), PREMATURE BIRTH(HP:0001622), LOOSE, REDUNDANT SKIN(HP:0001582), HYPOPLASIA INVOLVING BONES OF THE EXTREMITIES(HP:0009826), SOFT, DOUGHY SKIN(HP:0001027), FRAGILE SKIN(HP:0001030), PUFFY EYELIDS(HP:0000626), HYPOPLASIA OF THE TOES(HP:0004701), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), UMBILICAL HERNIA(HP:0001537), BLUE SCLERAE(HP:0000592), DECIDUOUS MOLARS SHOW ABNORMAL MORPHOLOGY(HP:0006344), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), DELAYED CLOSURE OF THE ANTERIOR FONTANELLE(HP:0001476), OSTEOPENIA(HP:0000938), PREMATURE RUPTURE OF MEMBRANES(HP:0001788), HYPODONTIA(HP:0000668), RECURRENT MANDIBULAR SUBLUXATIONS(HP:0005332), PROMINENT LIPS(HP:0000184), DELAYED MOTOR MILESTONES(HP:0002130), DECREASED BODY HEIGHT(HP:0004322), GINGIVAL HYPERKERATOSIS(HP:0000222), HIRSUTISM(HP:0001007), GINGIVAL HYPERPLASIA(HP:0000212), MICROGNATHIA(HP:0000210), ECCHYMOSES(HP:0000978), GINGIVAL BLEEDING(HP:0000225), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
9516	LITAF	[PES CAVUS(HP:0001761), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SEGMENTAL DEMYELINATION(HP:0007107), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV) (LESS THAN 38 M/S)(HP:0000760), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL AMYOTROPHY(HP:0003693), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), SEGMENTAL DEMYELINATION/REMYELINATION ON NERVE BIOPSY(HP:0003425), HYPOREFLEXIA(HP:0001265), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383), ONSET IN CHILDHOOD(HP:0003578), HYPERTROPHIC NERVE CHANGES(HP:0003382)]
9562	MINPP1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), FOLLICULAR THYROID CARCINOMA(HP:0006731)]
9622	KLK4	[ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AMELOGENESIS IMPERFECTA(HP:0000705)]
9639	ARHGEF10	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), ONSET IN ADULTHOOD(HP:0003581), DEMYELINATION(HP:0003381), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383)]
9657	IQCB1	[RETINITIS PIGMENTOSA(HP:0000510), HETEROGENEOUS(HP:0001425), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), END STAGE RENAL DISEASE(HP:0003774), ONSET IN INFANCY(HP:0003576), NEPHRONOPHTHISIS(HP:0000090)]
9719	ADAMTSL2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), AORTIC STENOSIS(HP:0001650), ROUND, FULL FACE(HP:0000304), LONG, SMOOTH PHILTRUM(HP:0000299), HIGH PITCHED VOICE(HP:0001620), HEPATOMEGALY(HP:0002240), TRACHEAL STENOSIS(HP:0002777), UPSLANTING PALPEBRAL FISSURES(HP:0000582), SMALL NAILS(HP:0001813), SHORTENED LONG TUBULAR BONES(HP:0004988), THICKENED SKIN(HP:0001072), SHORT FEET(HP:0001766), CAMPTODACTYLY (HANDS)(HP:0010563), WIDE MOUTH(HP:0000154), WRIST CONTRACTURES(HP:0001239), OSTEOPENIA(HP:0000938), THICKENED HELICES(HP:0000391), SHORT METACARPALS WITH ROUNDED PROXIMAL ENDS(HP:0006161), NASAL HYPOPLASIA(HP:0003196), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), SMALL, IRREGULAR CAPITAL FEMORAL EPIPHYSES(HP:0005041), COXA VALGA(HP:0002673), J-SHAPED SELLA TURCICA(HP:0002680), SMALL HANDS(HP:0001165), DECREASED BODY HEIGHT(HP:0004322), MITRAL STENOSIS(HP:0001718), NARES, ANTEVERTED(HP:0000463), PECTUS EXCAVATUM(HP:0000767)]
9723	SEMA3E	[ABNORMALITY OF THE NIPPLES(HP:0004404), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TETRALOGY OF FALLOT(HP:0001636), CRYPTORCHIDISM(HP:0000028), HYPOPLASTIC/SMALL THUMB(HP:0009778), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), MICROPENIS(HP:0000054), ATRIAL SEPTAL DEFECT(HP:0001631), LABIAL HYPOPLASIA(HP:0000066), HORSESHOE KIDNEY(HP:0000085), RENAL HYPOPLASIA(HP:0000089), UMBILICAL HERNIA(HP:0001537), RENAL AGENESIS(HP:0000104), OMPHALOCELE(HP:0001539), HYPOPLASTIC MALE GENITALIA(HP:0008721), SLOPING SHOULDERS(HP:0001556), HYDRONEPHROSIS(HP:0000126), CLEFT PALATE(HP:0000175), MENTAL RETARDATION(HP:0001249), POSTERIOR CHOANAL ATRESIA(HP:0004496), TRACHEOESOPHAGEAL FISTULA(HP:0002575), CLEFT LIP(HP:0000204), POLYDACTYLY (HANDS)(HP:0001161), ARRHINENCEPHALY(HP:0002139), DOUBLE OUTLET RIGHT VENTRICLE(HP:0001719), ECTRODACTYLY (HANDS)(HP:0001171), MICROGNATHIA(HP:0000210), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), OCULAR COLOBOMA(HP:0007995), DELAYED PUBERTY(HP:0000823), GROWTH HORMONE DEFICIENCY(HP:0000824), HYPERTELORISM(HP:0000316), ABNORMALITY OF THE RIBS(HP:0000772), FACIAL MUSCLE WEAKNESS(HP:0010628), ABNORMALITY OF THE CRANIAL NERVES(HP:0001291), FACIAL ASYMMETRY(HP:0000324), SQUARE FACE(HP:0000321), PARATHYROID HYPOPLASIA(HP:0000860), CUP-SHAPED EARS(HP:0000378), MIXED HEARING LOSS(HP:0000410), SMALL EARS(HP:0000409), DEAFNESS(HP:0000404), LOP EARS(HP:0000394), ANAL ATRESIA(HP:0002023), FEEDING DIFFICULTIES(HP:0002022), ANAL STENOSIS(HP:0002025), ANOPHTHALMIA, CLINICAL(HP:0001485), COLOBOMA OF IRIS, CHOROID AND RETINA(HP:0007748), DYSPHAGIA(HP:0002015), ABNORMAL PALMAR DERMATOGLYPHICS(HP:0001018), WEBBED NECK(HP:0000465), HEMIVERTEBRAE(HP:0002937), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), RETINAL COLOBOMA(HP:0000480)]
9733	SART3	[ABNORMALITY OF KERATINIZATION(HP:0001035), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
9782	MATR3	[NEUROPATHY(HP:0003407), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WEAKNESS(HP:0002309), BOWING OF THE LEGS(HP:0002979), DISTAL MUSCLE WEAKNESS(HP:0002460), SHOULDER GIRDLE MUSCLE WEAKNESS(HP:0003547), ABNORMALITY OF THE VOICE(HP:0001608), MYOPATHY(HP:0003198), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), GENERALIZED MUSCLE WEAKNESS(HP:0003324), DYSPHAGIA(HP:0002015), RIMMED VACUOLES(HP:0003805), GENU VARUM(HP:0002970), ASPIRATION(HP:0002835), GENU VARUS(HP:0003052), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), BOWING OF THE VOCAL CORDS(HP:0008756), ELEVATED SERUM CREATINE PHOSPHOKINASE(HP:0003236)]
9820	CUL7	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ENDOCRINE ABNORMALITY(HP:0000818), DOLICHOCEPHALY(HP:0000268), HYPOPLASTIC/SMALL 5TH FINGER(HP:0009237), HYPOSPADIAS(HP:0000047), SPINA BIFIDA OCCULTA(HP:0003298), JOINT HYPERMOBILITY(HP:0001382), HYPERLORDOSIS(HP:0003307), LONG PHILTRUM(HP:0000343), TRIANGULAR FACIES(HP:0000325), HAIR ABNORMALITY(HP:0001595), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), DISPROPORTIONATELY TALL VERTEBRAL BODIES(HP:0005693), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE FEET(HP:0001760), FULL LIPS(HP:0000170), FRONTAL BOSSING(HP:0002007), FLATTENED NASAL BRIDGE(HP:0000425), INTRAUTERINE GROWTH RETARDATION(HP:0001511), HYPOPLASTIC RIBS(HP:0000908), ABNORMALITY OF THE NASAL ALA(HP:0000429), LOW NASAL BRIDGE(HP:0000428), LOW BIRTH WEIGHT(HP:0001518), ABNORMALITY OF THE EYES(HP:0000478), CLINODACTYLY OF HANDS(HP:0001157), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), PECTUS EXCAVATUM(HP:0000767), NEONATAL RESPIRATORY DISTRESS(HP:0002643), SMALL PELVIS(HP:0003373), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462)]
9821	RB1CC1	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BREAST CANCER(HP:0003002)]
9839	ZEB2	[PULMONIC STENOSIS(HP:0001642), PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), FLESHY UPTURNED LOBULES(HP:0009764), COLUMELLA, LOW HANGING(HP:0009765), PULMONARY ARTERY STENOSIS(HP:0004415), ESOTROPIA(HP:0000565), ABDOMINAL DISTENTION(HP:0003270), CRYPTORCHIDISM(HP:0000028), POINTED CHIN(HP:0000307), HYPOSPADIAS(HP:0000047), HYPERTELORISM(HP:0000316), BIFID SCROTUM(HP:0000048), VENTRICULAR SEPTAL DEFECT(HP:0001629), PECTUS CARINATUM(HP:0000768), ATRIAL SEPTAL DEFECT(HP:0001631), IRIS COLOBOMA(HP:0000612), MALPOSITION OF TEETH(HP:0001569), HAIR ABNORMALITY(HP:0001595), CONGENITAL MEGACOLON(HP:0002251), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), CUP-SHAPED EARS(HP:0000378), PULMONARY ARTERY SLING(HP:0004961), SUPERNUMERARY NIPPLES(HP:0002558), GENERALIZED MUSCLE HYPERTROPHY(HP:0003720), WIDELY SPACED TEETH(HP:0000687), DROOLING(HP:0002307), DELAYED DENTITION(HP:0000684), HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079), MENTAL RETARDATION, MODERATE TO SEVERE(HP:0002316), CONSTIPATION(HP:0002019), BARIUM ENEMA SHOWS TRANSITION ZONE BETWEEN AGANGLIONIC CONTRACTED SEGMENT AND DILATED PROXIMAL BOWEL(HP:0002606), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), MENTAL RETARDATION, MODERATE(HP:0002342), VOMITING(HP:0002013), MOTOR RETARDATION(HP:0001270), BROAD NASAL BRIDGE(HP:0000431), SUBMUCOUS CLEFT PALATE(HP:0000176), AGENESIS OF CORPUS CALLOSUM(HP:0001274), DECREASED BODY HEIGHT(HP:0004322), DEFICIENCY OF SPEECH DEVELOPMENT(HP:0002116), PECTUS EXCAVATUM(HP:0000767), PTOSIS(HP:0000508), METABOLISM ABNORMALITY(HP:0001939), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), MICROCEPHALY(HP:0000252), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), DEEP SET EYES(HP:0000490), PROMINENT NASAL TIP(HP:0005274)]
9897	KIAA0196	[SPASTIC GAIT(HP:0002064), PES CAVUS(HP:0001761), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DEGENERATION OF THE LATERAL CORTICOSPINAL TRACTS(HP:0002314), URINARY URGENCY(HP:0000012), SPHINCTER DISTURBANCE(HP:0000018), URINARY INCONTINENCE(HP:0000020), HYPERREFLEXIA(HP:0001347), LOWER LIMB SPASTICITY(HP:0002061), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), DECREASED VIBRATORY SENSE IN THE LOWER LIMBS(HP:0002166), PROGRESSIVE DISORDER(HP:0003676), SPASTIC PARAPLEGIA(HP:0001258), SPHINCTER DISTURBANCES (BLADDER)(HP:0002839), ONSET IN ADULTHOOD(HP:0003581), INSIDIOUS ONSET(HP:0003587)]
9927	MFN2	[SUBACUTE DETERIORATION OF VISUAL ACUITY(HP:0007652), PES CAVUS(HP:0001761), HAMMER TOES(HP:0001765), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCOMPLETE PENETRANCE(HP:0003829), PROXIMAL MUSCLE WEAKNESS(HP:0003701), DISTAL AMYOTROPHY(HP:0003693), HYPERREFLEXIA(HP:0001347), DISTAL SENSORY IMPAIRMENT OF ALL MODALITIES(HP:0003409), NORMAL OR MILDLY DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003437), SLOW PROGRESSION(HP:0003677), ABNORMALITY OF VISION EVOKED POTENTIALS(HP:0000649), OPTIC ATROPHY(HP:0000648), DYSMETRIC SACCADES(HP:0000641), PEAK AGE OF ONSET IN SECOND DECADE (RANGE CHILDHOOD TO 50 YEARS)(HP:0003668), HYPOREFLEXIA(HP:0001265), HYPERTONIA(HP:0001276), PALE OPTIC DISKS(HP:0000543), HETEROGENEOUS(HP:0001425), VOCAL CORD PARESIS IN SEVERE CASES(HP:0008745), MILD NEUROSENSORY HEARING LOSS(HP:0008587), ANOSMIA(HP:0000458), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), LUMBAR HYPERLORDOSIS(HP:0002938), BABINSKI SIGN(HP:0003487), AREFLEXIA(HP:0001284), PYRAMIDAL SIGNS (LESS COMMON)(HP:0003488), SUBNORMAL VISUAL ACUITY(HP:0007860), POSITIVE ROMBERG SIGN(HP:0002403), SCOLIOSIS(HP:0002650), DECREASED NUMBER OF MYELINATED FIBERS MAY BE FOUND(HP:0003385), AXONAL ATROPHY ON NERVE BIOPSY(HP:0003384), SMALL 'ONION BULBS' MAY BE PRESENT(HP:0003389), EARLY ONSET(HP:0003593), FOOT DROP(HP:0003377), NERVE BIOPSY SHOWS AXONAL DEGENERATION(HP:0007304), 'STEPPAGE' GAIT(HP:0003376), CENTRAL SCOTOMA(HP:0000603), AXONAL DEGENERATION/REGENERATION ON NERVE BIOPSY(HP:0003378), LATE ONSET(HP:0003584), TINNITUS(HP:0000360)]
9940	DLEC1	[ALVEOLAR CELL CARCINOMA(HP:0006519), RESPIRATORY ABNORMALITY(HP:0002086), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
9950	GOLGA5	[AGE OF ONSET(HP:0003674), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PAPILLARY THYROID CARCINOMA(HP:0002895), SPORADIC(HP:0003745)]
9968	MED12	[FACIAL WRINKLING(HP:0009762), MACROCEPHALY, POSTNATAL(HP:0005490), INGUINAL HERNIA(HP:0000023), CRYPTORCHIDISM(HP:0000028), HYPERNASAL SPEECH(HP:0001614), FRONTAL HAIR UPSWEEP(HP:0002236), HYPOSPADIAS(HP:0000047), CHOROIDAL SCLEROSIS(HP:0001150), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), HIGH PITCHED VOICE(HP:0001620), FINE HAIR(HP:0002213), SPARSE HAIR(HP:0008070), NEURONAL MIGRATION DISORDER(HP:0002269), ANTERIORLY PLACED ANUS(HP:0001545), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), UMBILICAL HERNIA(HP:0001537), HETEROTOPIA(HP:0002282), DENTAL OVERCROWDING(HP:0000678), HIGH-ARCHED PALATE(HP:0000156), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), LONG NOSE(HP:0003189), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), MOTOR RETARDATION(HP:0001270), INTESTINAL MALROTATION(HP:0002566), PROMINENT LOWER LIP(HP:0000179), MACROSTOMIA(HP:0000181), CLEFT LIP(HP:0000204), LOW FRUSTRATION TOLERANCE(HP:0000744), CLINODACTYLY OF HANDS(HP:0001157), SYNDACTYLY(HP:0001159), ARACHNODACTYLY(HP:0001166), OPEN MOUTH(HP:0000194), ECTRODACTYLY (HANDS)(HP:0001171), PECTUS EXCAVATUM(HP:0000767), THIN UPPER LIP(HP:0000219), HYPERACTIVITY(HP:0000752), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), MICROGNATHIA(HP:0000210), EMOTIONAL LABILITY(HP:0000712), HYDROCEPHALUS(HP:0000238), AUTISM(HP:0000717), AGGRESSIVE BEHAVIOR(HP:0000718), ATTENTION DEFICIT HYPERACTIVITY DISORDER(HP:0007018), PSYCHOSIS(HP:0000709), IMPAIRED SOCIAL INTERACTIONS(HP:0000735), ASCENDING AORTIC ANEURYSM(HP:0002631), OBSESSIVE-COMPULSIVE DISORDER(HP:0000722), PROMINENT FINGERTIP PADS(HP:0001212), NARROW FACE(HP:0000275), LONG FACE(HP:0000276), EPICANTHUS(HP:0000286), PLAGIOCEPHALY(HP:0001357), WIDE ANTERIOR FONTANEL(HP:0000260), MILD VERTEBRAL ANOMALIES(HP:0005719), HYPERTELORISM(HP:0000316), JOINT LAXITY(HP:0001388), ABNORMALLY FOLDED HELIX(HP:0008544), LONG PHILTRUM(HP:0000343), MANDIBULAR HYPOPLASIA(HP:0000347), GENERALIZED HYPOTONIA(HP:0001290), HYPOPLASIA OF THE MAXILLA(HP:0000327), SHORT PHILTRUM(HP:0000322), PARTIAL AGENESIS OF THE CORPUS CALLOSUM(HP:0001338), LOW-SET EARS(HP:0000369), SMALL, SIMPLE EARS(HP:0000379), BROAD HALLUX(HP:0010055), NEONATAL HYPOTONIA(HP:0001319), SMALL EARS(HP:0000409), TRANSVERSE PALMAR CREASES(HP:0000954), CAMPTODACTYLY (HANDS)(HP:0010563), JOINT SWELLING ONSET LATE INFANCY(HP:0005833), HEARING LOSS, SENSORINEURAL(HP:0000407), CONSTIPATION(HP:0002019), DELAYED CLOSURE OF THE ANTERIOR FONTANELLE(HP:0001476), PYLORIC STENOSIS(HP:0002021), ANAL ATRESIA(HP:0002023), ANAL STENOSIS(HP:0002025), DEEP PHILTRUM(HP:0002002), BROAD PHALANGES OF THE THUMB(HP:0009651), HIGH NASAL BRIDGE(HP:0000442), FRONTAL BOSSING(HP:0002007), NARROW NASAL BRIDGE(HP:0000446), MULTIPLE JOINT CONTRACTURES(HP:0002828), DOLICHOSTENOMELIA(HP:0001519), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), X-LINKED RECESSIVE INHERITANCE(HP:0001419), CHOANAL ATRESIA(HP:0000453), LUMBAR HYPERLORDOSIS(HP:0002938), PROMINENT NOSE(HP:0000448), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), STRABISMUS(HP:0000486), SACRAL DIMPLE(HP:0000960)]
9990	SLC12A6	[PERIPHERAL SENSORY NEUROPATHY, SEVERE(HP:0006815), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MENTAL RETARDATION, MILD TO SEVERE(HP:0002458), FACIAL DIPLEGIA(HP:0001349), EMG SHOWS EVIDENCE OF DENERVATION(HP:0007059), HYPERTELORISM(HP:0000316), NARROW FOREHEAD(HP:0000341), DECREASED MOTOR AND SENSORY NERVE CONDUCTION VELOCITIES(HP:0007118), GENERALIZED HYPOTONIA(HP:0001290), HYPOPLASIA OF THE MAXILLA(HP:0000327), FACIAL ASYMMETRY(HP:0000324), AMYOTROPHY(HP:0003202), HAIR ABNORMALITY(HP:0001595), AXONAL NEUROPATHY(HP:0003477), AREFLEXIA(HP:0001284), NEONATAL HYPOTONIA(HP:0001319), ABNORMALITY OF THE FEET(HP:0001760), LARGE EARS(HP:0000400), PERIPHERAL MOTOR NEUROPATHY, SEVERE(HP:0007278), HIGH-ARCHED PALATE(HP:0000156), NASAL HYPOPLASIA(HP:0003196), SEIZURES(HP:0001250), PROGRESSIVE DISORDER(HP:0003676), DEVELOPMENTAL RETARDATION(HP:0001263), RESTRICTIVE RESPIRATORY INSUFFICIENCY(HP:0002111), BROAD NASAL ROOT(HP:0000424), AGENESIS OF CORPUS CALLOSUM(HP:0001274), LONG TAPERED FINGERS(HP:0006125), DELAYED MOTOR MILESTONES(HP:0002130), INCREASED CSF PROTEIN(HP:0002922), VENTRICULOMEGALY(HP:0002119), PTOSIS(HP:0000508), SCOLIOSIS(HP:0002650), BRACHYCEPHALY(HP:0000248), AXONAL DEGENERATION/REGENERATION ON NERVE BIOPSY(HP:0003378), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383)]
9992	KCNE2	[HETEROGENEOUS(HP:0001425), TORSADE DE POINTES(HP:0001664), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SUDDEN CARDIAC DEATH(HP:0001645), PROLONGED QT INTERVAL ON EKG(HP:0001657), SYNCOPE(HP:0001279)]
9997	SCO2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LIMITED EXTRAOCULAR MOVEMENTS(HP:0007941), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), FEEDING DIFFICULTIES(HP:0002022), RESPIRATORY DIFFICULTIES(HP:0002880), MUSCULAR HYPOTONIA(HP:0001252), LACTIC ACIDEMIA(HP:0003128), NEURONAL LOSS(HP:0002400), DEATH IN INFANCY(HP:0001522), DEVELOPMENTAL RETARDATION(HP:0001263), GLIOSIS(HP:0002171), INCREASED SERUM LACTATE(HP:0002151), INCREASED CSF LACTATE(HP:0002490), ONSET AT BIRTH(HP:0003577)]
10002	NR2E3	[ABOLISHED ELECTRORETINOGRAM (ERG)(HP:0000550), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PHOTOPHOBIA(HP:0000613), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABSENT ROD-AND CONE-MEDIATED RESPONSES ON ERG(HP:0007688), CYSTOID MACULAR DEGENERATION(HP:0008028), VITREORETINAL DEGENERATION(HP:0000655), CATARACT(HP:0000518), PIGMENTARY RETINOPATHY(HP:0000580), PIGMENTARY RETINAL DEGENERATION(HP:0001146), NIGHT BLINDNESS(HP:0000662)]
10020	GNE	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TOE SYNDACTYLY(HP:0001770), COARSE FACIAL FEATURES(HP:0000280), EPICANTHUS(HP:0000286), HIGH-ARCHED PALATE(HP:0000156), DISTAL MUSCLE WEAKNESS(HP:0002460), INGUINAL HERNIA(HP:0000023), DISTAL AMYOTROPHY(HP:0003693), SEIZURES(HP:0001250), FRONTAL BOSSING(HP:0002007), LIMB-GIRDLE MUSCLE ATROPHY(HP:0003797), DEVELOPMENTAL RETARDATION(HP:0001263), LIMB-GIRDLE MUSCLE WEAKNESS(HP:0003325), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), GENERALIZED HIRSUTISM(HP:0002230), RIMMED VACUOLES(HP:0003805), HYPERTELORISM(HP:0000316), SPLENOMEGALY(HP:0001744), SYNOPHRYS(HP:0000664), RESPIRATORY ABNORMALITY(HP:0002086), BROAD NASAL BRIDGE(HP:0000431), LONG, SMOOTH PHILTRUM(HP:0000299), DEPOSITS IMMUNOREACTIVE TO BETA-AMYLOID PROTEIN(HP:0003791), INCREASED LENGTH OF THE HALLUX(HP:0001847), GAIT DISTURBANCE(HP:0001288), ONSET IN EARLY ADULTHOOD(HP:0003627), PERIORBITAL FULLNESS(HP:0000629), THIN UPPER LIP(HP:0000219), SMALL CHEST(HP:0001590), HEPATOMEGALY(HP:0002240), INCREASED CREATINE KINASE(HP:0003078), LOW-SET EARS(HP:0000369), LOW POSTERIOR HAIRLINE(HP:0002162), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), ATTENTION DEFICIT HYPERACTIVITY DISORDER(HP:0007018), SCOLIOSIS(HP:0002650), PROTUBERANT ABDOMEN(HP:0001538), HYPOPLASTIC NIPPLES(HP:0002557)]
10021	HCN4	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET IN UTERO OR AT BIRTH(HP:0003601), ATRIAL FIBRILLATION MAY OCCUR(HP:0005179), SINUS BRADYCARDIA, ISOLATED(HP:0005137)]
10082	GPC6	[MALAR HYPOPLASIA(HP:0000272), SHORT FIBULAE(HP:0002985), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), PULMONARY ARTERY STENOSIS(HP:0004415), SHORT TIBIA(HP:0002993), CRYPTORCHIDISM(HP:0000028), VENTRICULAR SEPTAL DEFECT(HP:0001629), RHIZOMELIC SHORTENING(HP:0002968), ATRIAL SEPTAL DEFECT(HP:0001631), LONG PHILTRUM(HP:0000343), LIMITED KNEE FLEXION(HP:0006389), HEMANGIOMAS(HP:0001028), LIMITED ELBOW FLEXION(HP:0006376), BLEPHAROPHIMOSIS(HP:0000581), PTERYGIA(HP:0001059), SHORT HUMERI(HP:0003014), UMBILICAL HERNIA(HP:0001537), NASAL HYPOPLASIA(HP:0003196), FRONTAL BOSSING(HP:0002007), ANTERIOR/LATERAL RADIAL HEAD DISLOCATION(HP:0005050), FLATTENED NASAL BRIDGE(HP:0000425), BROAD NASAL BRIDGE(HP:0000431), DWARFISM(HP:0001516), HYPOPLASTIC DISTAL HUMERII(HP:0005025), SHORT NECK(HP:0000470), MICROGNATHIA(HP:0000210), ABNORMALITY OF THE PELVIS(HP:0002644)]
10083	USH1C	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), SENSORINEURAL HEARING LOSS, PROFOUND CONGENITAL(HP:0008520), ABNORMALITY OF THE FACE(HP:0000271), PROGRESSIVE RETINITIS PIGMENTOSA(HP:0001127), VESTIBULAR HYPOFUNCTION(HP:0001756)]
10084	PQBP1	[MALAR HYPOPLASIA(HP:0000272), EPICANTHUS(HP:0000286), TETRALOGY OF FALLOT(HP:0001636), HYPERREFLEXIA(HP:0001347), CATARACT(HP:0000518), HYPOSPADIAS(HP:0000047), LONG, NARROW FACIES(HP:0000318), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), MANDIBULAR PROGNATHIA(HP:0000303), BLINDNESS(HP:0000618), SHORT PHILTRUM(HP:0000322), HAIR ABNORMALITY(HP:0001595), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), SYMPHALANGISM OF THE 5TH FINGER(HP:0004218), UPSLANTING PALPEBRAL FISSURES(HP:0000582), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), CUP-SHAPED EARS(HP:0000378), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), PROTRUDING EARS(HP:0000411), PES CAVUS(HP:0001761), BULBOUS NOSE(HP:0000414), CAMPTODACTYLY (HANDS)(HP:0010563), LARGE EARS(HP:0000400), HIGH-ARCHED PALATE(HP:0000156), ANAL ATRESIA(HP:0002023), SLENDER FEET(HP:0001786), CEREBRAL ATROPHY(HP:0002059), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), MICROSTOMIA(HP:0000160), SPASTICITY(HP:0001257), BROAD NASAL BRIDGE(HP:0000431), SITUS INVERSUS(HP:0001696), DECREASED BODY HEIGHT(HP:0004322), PECTUS EXCAVATUM(HP:0000767), X-LINKED RECESSIVE INHERITANCE(HP:0001419), MICROGNATHIA(HP:0000210), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), BRACHYCEPHALY(HP:0000248), OCULAR COLOBOMA(HP:0007995)]
10102	TSFM	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE PHENOTYPE(HP:0003813), FEEDING DIFFICULTIES(HP:0002022), PATENT FORAMEN OVALE(HP:0001655), SEIZURES(HP:0001250), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HYPOKINESIA(HP:0002375), HETEROGENEOUS(HP:0001425), ENCEPHALOPATHY(HP:0001298), EARLY DEATH(HP:0001432), CONCENTRIC HYPERTROPHIC CARDIOMYOPATHY(HP:0005157), RHABDOMYOLYSIS(HP:0003201), DECREASED ACTIVITY OF MITOCHONDRIAL RESPIRATORY COMPLEXES I, II+III, AND IV(HP:0008347), VENTRICULOMEGALY(HP:0002119), LACTIC ACIDEMIA(HP:0003128), INCREASED SERUM LACTATE(HP:0002151), MUSCLE WEAKNESS(HP:0001324), INCREASED SERUM CREATINE KINASE(HP:0002147), DECREASED FETAL MOVEMENT(HP:0001558), NEONATAL HYPOTONIA(HP:0001319)]
10117	ENAM	[AMELOGENESIS IMPERFECTA, HYPOPLASTIC(HP:0006331), HETEROGENEOUS(HP:0001425), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED ENAMEL MINERALISATION(HP:0006359), ANTERIOR OPENBITE MALOCCLUSION(HP:0009102), YELLOW-BROWN DISCOLORATION OF THE TEETH(HP:0006286), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
10128	LRPPRC	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LIVER BIOPSY SHOWS INCREASED LIPID DROPLETS(HP:0006565), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), FRONTAL BOSSING(HP:0002007), DEVELOPMENTAL RETARDATION(HP:0001263), INCREASED CSF LACTATE(HP:0002490), LOW FRONTAL HAIRLINE(HP:0000294), ONSET IN INFANCY(HP:0003576), NARES, ANTEVERTED(HP:0000463), TREMOR(HP:0001337), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), LACTIC ACIDEMIA(HP:0003128), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), INCREASED SERUM LACTATE(HP:0002151), DEMYELINATION(HP:0003381)]
10133	OPTN	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), GLAUCOMA(HP:0000501)]
10157	AASS	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED BODY HEIGHT(HP:0004322), HISTIDINURIA(HP:0002927), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), HYPERLYSINEMIA(HP:0002161), MENTAL RETARDATION(HP:0001249), GENITOURINARY ABNORMALITY(HP:0000119), ECTOPIA LENTIS(HP:0001083), EEG ABNORMALITIES(HP:0002353), MILD ANEMIA(HP:0001926), SPASTIC DIPLEGIA(HP:0001264), LYSINURIA(HP:0002158)]
10159	ATP6AP2	[GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), DELAYED SPEECH ACQUISITION(HP:0002498), MOTOR RETARDATION(HP:0001270), X-LINKED RECESSIVE INHERITANCE(HP:0001419), ONSET IN INFANCY(HP:0003576)]
10161	LPAR6	[WOOLLY HAIR(HP:0002224), BLOND HAIR(HP:0002214), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
10165	SLC25A13	[INTRAHEPATIC CHOLESTASIS(HP:0001406), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCREASED TOTAL BILIRUBIN(HP:0003573), HYPERBILIRUBINEMIA(HP:0002904)]
10166	SLC25A15	[PROTEIN AVOIDANCE(HP:0002038), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), APRAXIA(HP:0002186), PHENOTYPIC VARIABILITY(HP:0003812), LIVER DYSFUNCTION(HP:0004393), RETINAL DEPIGMENTATION(HP:0001111), HYPERREFLEXIA(HP:0001347), ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062), ACUTE ENCEPHALOPATHY(HP:0006846), CHORIORETINAL THINNING(HP:0007931), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508), IMPAIRED VIBRATORY SENSE(HP:0002495), EPISODIC VOMITING(HP:0002572), POOR COORDINATION(HP:0002370), ABNORMALITY OF THE CEREBRAL WHITE MATTER(HP:0002500), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), CEREBRAL CORTICAL ATROPHY(HP:0002120), HEPATOMEGALY(HP:0002240), MYOCLONIC SEIZURES(HP:0002123), PROGRESSIVE SPASTIC PARAPARESIS(HP:0007199), LEARNING DISABILITY(HP:0001328), CLONUS(HP:0002169), COAGULOPATHY(HP:0001925)]
10195	ALG3	[CONTRACTURES(HP:0001371), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), HYPERREFLEXIA(HP:0001347), LONG, HYPEREXTENSIBLE FINGERS(HP:0006010), SEVERE VISUAL IMPAIRMENT(HP:0001141), IRIS COLOBOMA(HP:0000612), ARTHROGRYPOSIS MULTIPLEX CONGENITA(HP:0002804), HYPSARRHYTHMIA(HP:0002521), TALIPES EQUINOVARUS(HP:0001762), MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), CONTRACTURES OF THE HANDS(HP:0006096), BULBOUS NOSE(HP:0000414), LARGE EARS(HP:0000400), SMALL, DYSPLASTIC NAILS(HP:0008412), HIGH-ARCHED PALATE(HP:0000156), CEREBRAL ATROPHY(HP:0002059), PSYCHOMOTOR RETARDATION(HP:0001255), DECREASED ELECTRORETINOGRAM (ERG)(HP:0000654), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), DIARRHEA(HP:0002014), VOMITING(HP:0002013), FLAT, BROAD NASAL BRIDGE(HP:0000439), FAILURE TO THRIVE(HP:0001508), HYPERTONIA(HP:0001276), CEREBELLAR ATROPHY(HP:0001272), CLINODACTYLY OF HANDS(HP:0001157), ABNORMAL ISOELECTRIC FOCUSING OF SERUM TRANSFERRIN (TYPE 1 PATTERN)(HP:0003642), BIFID UVULA(HP:0000193), ADDUCTED THUMBS(HP:0001181), MICROCEPHALY(HP:0000252), STRABISMUS(HP:0000486)]
10216	PRG4	[GENERALIZED MORNING STIFFNESS(HP:0005197), COXA VARA(HP:0002812), FLATTENED METATARSAL AND METACARPAL HEADS(HP:0005194), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ARTHROPATHY(HP:0003040), SYNOVIAL HYPERTROPHY(HP:0005186), CONGENITAL FINGER FLEXION CONTRACTURES(HP:0005879), CONSTRICTIVE PERICARDITIS(HP:0002563)]
10225	CD96	[DELAYED SKELETAL MATURATION(HP:0002750), PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DELAYED MYELINATION(HP:0002188), CRYPTORCHIDISM(HP:0000028), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), CLITOROMEGALY(HP:0000057), PROMINENT EYES(HP:0000536), VESICOURETERAL REFLUX(HP:0000076), HYPOPLASIA INVOLVING BONES OF THE EXTREMITIES(HP:0009826), NEVUS FLAMMEUS(HP:0001052), HEPATOMEGALY(HP:0002240), FUSED STERNAL OSSIFICATION CENTERS(HP:0006643), UPSLANTING PALPEBRAL FISSURES(HP:0000582), OMPHALOCELE(HP:0001539), POLYHYDRAMNIOS(HP:0001561), WIDE INTERMAMILLARY DISTANCE(HP:0006610), TOE SYNDACTYLY(HP:0001770), HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079), HIGH-ARCHED PALATE(HP:0000156), PSYCHOMOTOR RETARDATION(HP:0001255), NASAL HYPOPLASIA(HP:0003196), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), BROAD ALVEOLAR RIDGES(HP:0000187), INTESTINAL MALROTATION(HP:0002566), ORAL FRENULA(HP:0000191), AGENESIS OF CORPUS CALLOSUM(HP:0001274), MACROSTOMIA(HP:0000181), CLEFT LIP(HP:0000204), CLINODACTYLY OF HANDS(HP:0001157), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), BROAD HANDS(HP:0001169), DISLOCATED RADIAL HEAD(HP:0003083), TAPERED FINGERS(HP:0001182), MICROGNATHIA(HP:0000210), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), ULNAR DEVIATION OF FINGERS(HP:0009465), TRIGONOCEPHALY(HP:0000243), LONG FACE(HP:0000276), EPICANTHUS(HP:0000286), RENAL CORTICAL CYSTS(HP:0000803), HYPERTELORISM(HP:0000316), DEEP PLANTAR CREASES(HP:0001869), HYPERECHOGENIC PANCREAS(HP:0006276), DANDY-WALKER MALFORMATION(HP:0001305), OVERRIDING TOES(HP:0001845), POSTAXIAL POLYDACTYLY (FEET)(HP:0001830), HYPOPLASIA OF THE TOES(HP:0004701), FACIAL HEMANGIOMA(HP:0000329), LOW-SET EARS(HP:0000369), SUPERNUMERARY NIPPLES(HP:0002558), POSTERIORLY ROTATED EARS(HP:0000358), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), CAMPTODACTYLY (HANDS)(HP:0010563), FRONTAL BOSSING(HP:0002007), DISLOCATED HIPS(HP:0002827), FAILURE TO THRIVE(HP:0001508), INTRAUTERINE GROWTH RETARDATION(HP:0001511), BROAD NASAL BRIDGE(HP:0000431), DECREASED BODY HEIGHT(HP:0004322), NARES, ANTEVERTED(HP:0000463), HIRSUTISM(HP:0001007), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), THICK ANTERIOR ALVEOLAR RIDGES(HP:0009100), CUTIS LAXA(HP:0000973), SACRAL DIMPLE(HP:0000960), STRABISMUS(HP:0000486)]
10243	GPHN	[INCREASED URINARY SULFITE, THIOSULFATE, S-SULFOCYSTEINE, TAURINE, HYPOXANTHINE, AND XANTHINE(HP:0003166), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), XANTHINE DEHYDROGENASE DEFICIENCY(HP:0003534), URINARY XANTHINE STONES(HP:0000804), ABNORMAL MUSCLE TONE(HP:0003808), INGUINAL HERNIA(HP:0000023), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL ATROPHY(HP:0002059), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DISLOCATED HIPS(HP:0002827), LENS DISLOCATION(HP:0000665), FREQUENT FALLS(HP:0002359), MOLYBDENUM COFACTOR DEFICIENCY(HP:0003570), ONSET IN INFANCY(HP:0003576), SULFITE OXIDASE DEFICIENCY(HP:0003643), EXAGGERATED STARTLE RESPONSE(HP:0002267), HYPERTONICITY(HP:0002388), DECREASED URINARY SULFATE AND URATE(HP:0003359), ALDEHYDE OXIDASE DEFICIENCY(HP:0002932), SPASTIC TETRAPARESIS(HP:0001285), MYOCLONUS(HP:0001336), ABSENT URINARY UROTHIONE(HP:0003606), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), UMBILICAL HERNIA(HP:0001537), MYOCLONIC SPASMS(HP:0003739)]
10269	ZMPSTE24	[PATENT DUCTUS ARTERIOSUS(HP:0001643), KYPHOSCOLIOSIS(HP:0002751), JOINT CONTRACTURES(HP:0001372), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INSULIN-RESISTANT DIABETES MELLITUS(HP:0000831), THIN, DYSPLASTIC BIPARTITE CLAVICLES(HP:0006585), ABNORMALITY OF HAIR TEXTURE(HP:0010719), PROMINENT SUPERFICIAL BLOOD VESSELS(HP:0007394), GENERALIZED LIPODYSTROPHY(HP:0009064), DELAYED CLOSURE OF FONTANELLES(HP:0000270), POORLY OSSIFIED CALVARIA(HP:0005474), HYPOSPADIAS(HP:0000047), HYPERTELORISM(HP:0000316), STILLBIRTH(HP:0001624), DECREASED ADIPOSE TISSUE AROUND NECK(HP:0005995), LOSS OF FACIAL ADIPOSE TISSUE(HP:0000292), ACROOSTEOLYSIS OF DISTAL PHALANGES (FEET)(HP:0001870), ATRIAL SEPTAL DEFECT(HP:0001631), PROMINENT EYES(HP:0000536), PREMATURE BIRTH(HP:0001622), SPARSE HAIR(HP:0008070), OSTEOLYTIC DEFECTS OF THE DISTAL PHALANGES OF THE HAND(HP:0009839), OVERTUBULATED LONG BONES(HP:0006391), MANDIBULAR HYPOPLASIA(HP:0000347), URETERAL DUPLICATION(HP:0000073), ENTROPION(HP:0000621), BIRD-LIKE FACIES(HP:0000320), LOSS OF SUBCUTANEOUS TRUNCAL ADIPOSE TISSUE(HP:0009002), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), LOW-SET EARS(HP:0000369), MOTTLED PIGMENTATION(HP:0001070), BLEPHAROPHIMOSIS(HP:0000581), ADRENAL HYPOPLASIA(HP:0000835), SPARSE TO ABSENT EYELASHES(HP:0002284), GLUCOSE INTOLERANCE(HP:0000833), POLYHYDRAMNIOS(HP:0001561), HYPERINSULINEMIA(HP:0000842), SHORT NAILS(HP:0001799), DECREASED FETAL ACTIVITY(HP:0001559), DENTAL OVERCROWDING(HP:0000678), LOSS OF TEETH(HP:0000701), DYSPLASTIC EARS(HP:0000398), NEONATAL TEETH(HP:0000695), EPIDERMAL HYPERKERATOSIS(HP:0007543), PREMATURE RUPTURE OF MEMBRANES(HP:0001788), MICROSTOMIA(HP:0000160), INTRAUTERINE GROWTH RETARDATION(HP:0001511), PROGRESSIVE ACROOSTEOLYSIS OF THE CLAVICLE(HP:0000905), SUBMUCOUS CLEFT PALATE(HP:0000176), PULMONARY HYPOPLASIA(HP:0002089), PINCHED NOSE(HP:0000418), HYPOPLASTIC CLAVICLES(HP:0000898), DERMAL ATROPHY(HP:0004334), HETEROGENEOUS(HP:0001425), LOSS OF SUBCUTANEOUS ADIPOSE TISSUE IN LIMBS(HP:0003635), ABNORMALITY OF THE NECK(HP:0000464), DECREASED SUBCUTANEOUS FAT(HP:0001002), CONGENITAL VERTICAL TALUS(HP:0010218), CHOANAL ATRESIA(HP:0000453), HYPERGLYCEMIA(HP:0003074), ADIPOSE TISSUE LOSS(HP:0008887), HYPERLIPIDEMIA(HP:0003077), MICROGNATHIA(HP:0000210), LARGE FONTANELLES(HP:0000239), INCREASED ANTERIOPOSTERIOR DIAMETER OF CHEST(HP:0005253), SHORT UMBILICAL CORD(HP:0001196)]
10312	TCIRG1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), SANDWICH APPEARANCE OF VERTEBRAL BODIES(HP:0004618), MACROCEPHALY(HP:0000256), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), FRONTAL BOSSING(HP:0002007), PANCYTOPENIA(HP:0001876), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), CARIOUS TEETH(HP:0000670), CRANIAL NERVE PARALYSIS(HP:0006824), COXA VARA(HP:0002812), BLINDNESS(HP:0000618), FACIAL MUSCLE WEAKNESS(HP:0010628), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), HYDROCEPHALUS(HP:0000238), OPHTHALMOPARESIS(HP:0000597), OSTEOMYELITIS(HP:0002754), PATHOLOGIC FRACTURE(HP:0002756)]
10381	TUBB3	[CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES(HP:0001491), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), COMPENSATORY CHIN ELEVATION(HP:0001477), NONPROGRESSIVE DISORDER(HP:0003680), OPHTHALMOPLEGIA, NONPROGRESSIVE RESTRICTIVE, BILATERAL OR UNILATERAL(HP:0007682), PTOSIS(HP:0000508), EXOTROPIA(HP:0000577), AMBLYOPIA(HP:0000646)]
10397	NDRG1	[INTRAAXONAL ACCUMULATION OF CURVILINEAR PROFILES(HP:0006916), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMAL BRAINSTEM AUDITORY EVOKED POTENTIALS, SUGGESTING DEMYELINATION(HP:0006923), DEAFNESS(HP:0000404), DISTAL AMYOTROPHY(HP:0003693), ABNORMAL AUDITORY EVOKED POTENTIALS(HP:0006958), SEGMENTAL DEMYELINATION/REMYELINATION ON NERVE BIOPSY(HP:0003425), HYPOREFLEXIA(HP:0001265), AXONAL LOSS(HP:0003447), ONSET IN FIRST DECADE(HP:0003582), ABNORMALITY OF THE HAND(HP:0001155), SEVERELY REDUCED NERVE CONDUCTION VELOCITIES(HP:0007231), SEGMENTAL DEMYELINATION(HP:0007107), CHRONIC IMMUNE THROMBOCYTOPENIA(HP:0004806), GAIT DISTURBANCE(HP:0001288), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), TALIPES CAVUS EQUINOVARUS(HP:0004696), DISTAL SENSORY IMPAIRMENT(HP:0002936), AREFLEXIA(HP:0001284), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383)]
10436	EMG1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE JOINTS(HP:0001367), LOW BIRTH WEIGHT(HP:0001518), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), CONGENITAL VERTICAL TALUS(HP:0010218), MICROGNATHIA(HP:0000210), PROMINENT NOSE(HP:0000448), MICROCEPHALY(HP:0000252)]
10461	MERTK	[RETINITIS PIGMENTOSA(HP:0000510), CONSTRICTED VISUAL FIELDS(HP:0001133), NIGHT BLINDNESS(HP:0000662)]
10468	FST	[AMENORRHEA(HP:0000141), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ALOPECIA(HP:0001596), HIRSUTISM(HP:0001007), OLIGOMENORRHEA(HP:0000876), HYPERTRICHOSIS(HP:0000998), METABOLISM ABNORMALITY(HP:0001939), OBESITY(HP:0001513), ENLARGED POLYCYSTIC OVARIES(HP:0008675)]
10479	SLC9A6	[CONTRACTURES(HP:0001371), URINARY INCONTINENCE(HP:0000020), LOSS OF ABILITY TO WALK IN FIRST DECADE(HP:0006794), THICK EYEBROWS(HP:0000574), LONG, NARROW FACIES(HP:0000318), NARROW CHEST(HP:0000774), HYPERKINESIS(HP:0002487), MANDIBULAR PROGNATHIA(HP:0000303), AMYOTROPHY(HP:0003202), HAIR ABNORMALITY(HP:0001595), LOW WEIGHT(HP:0001823), MUTISM(HP:0002300), OPHTHALMOPLEGIA(HP:0000602), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), DROOLING(HP:0002307), ABNORMALITY OF THE FEET(HP:0001760), LARGE EARS(HP:0000400), TRUNCAL ATAXIA(HP:0002078), BOWEL INCONTINENCE(HP:0002607), DEVELOPMENTAL RETARDATION(HP:0001263), LONG NOSE(HP:0003189), DYSPHAGIA(HP:0002015), SLEEP DISTURBANCES(HP:0002360), CEREBELLAR ATROPHY(HP:0001272), OPEN MOUTH(HP:0000194), HYPERACTIVITY(HP:0000752), X-LINKED DOMINANT INHERITANCE(HP:0001423), SEIZURES, TONIC-CLONIC, PHOTOSENSITIVE(HP:0007207), ADDUCTED THUMBS(HP:0001181), MICROCEPHALY(HP:0000252), STRABISMUS(HP:0000486)]
10483	SEC23B	[INEFFECTIVE ERYTHROPOIESIS(HP:0005553), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ENDOPOLYPLOIDY ON CHROMOSOME STUDIES OF BONE MARROW(HP:0003352), DEFICIENT N-ACETYLGLUCOSAMINYLTRANSFERASE II(HP:0003655)]
10484	SEC23A	[MALAR HYPOPLASIA(HP:0000272), PUNCTATE LENTICULAR OPACITIES(HP:0007648), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HIGH, NARROW ILIAC WINGS(HP:0008808), WIDE ANTERIOR FONTANEL(HP:0000260), CRYPTORCHIDISM(HP:0000028), HYPERTELORISM(HP:0000316), JOINT LAXITY(HP:0001388), COARSE HAIR(HP:0002208), LONG, SMOOTH PHILTRUM(HP:0000299), SPARSE HAIR(HP:0008070), PROMINENT SUPRAORBITAL RIDGES(HP:0000336), CONGENITAL EARLOBE SINUSES(HP:0004461), PES PLANUS(HP:0001763), HYPOPLASTIC TEETH(HP:0000685), DELAYED DENTITION(HP:0000684), WIDE MOUTH(HP:0000154), DELAYED CLOSURE OF THE ANTERIOR FONTANELLE(HP:0001476), FRONTAL BOSSING(HP:0002007), POSTERIOR WEDGING OF VERTEBRAL BODIES(HP:0008444), CARIOUS TEETH(HP:0000670), BROAD NASAL BRIDGE(HP:0000431), FOREHEAD HYPERPIGMENTATION(HP:0005336), DECREASED BODY HEIGHT(HP:0004322), THIN UPPER LIP(HP:0000219), CAPILLARY HEMANGIOMAS(HP:0005306), SCOLIOSIS(HP:0002650)]
10491	CRTAP	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MICROMELIA(HP:0002983), BOWING OF THE LEGS(HP:0002979), WIDE ANTERIOR FONTANEL(HP:0000260), OSTEOPENIA(HP:0000938), MULTIPLE PRENATAL FRACTURES(HP:0005855), POORLY OSSIFIED CALVARIA(HP:0005474), OPEN SUTURES(HP:0003794), ROUND FACE(HP:0000311), DEATH IN INFANCY(HP:0001522), VERTEBRAL COMPRESSION FRACTURES(HP:0002953), PROPTOSIS(HP:0000520), ABNORMALITY OF THE TEETH(HP:0000164), NARROW CHEST(HP:0000774), PROTRUSIO ACETABULI(HP:0003179), EXTERNALLY ROTATED/ABDUCTED LEGS(HP:0003783), RHIZOMELIC SHORTENING(HP:0002968), TYPE 1 COLLAGEN OVERMODIFICATION(HP:0003784), BREECH PRESENTATION(HP:0001623), RESPIRATORY INSUFFICIENCY(HP:0002093), LONG PHILTRUM(HP:0000343), COXA VARA(HP:0002812), DECREASED BODY HEIGHT(HP:0004322), PECTUS EXCAVATUM(HP:0000767), HYPOPLASTIC PULMONARY VEINS(HP:0005304), MULTIPLE RIB FRACTURES(HP:0006640), WORMIAN BONES(HP:0002645), SCOLIOSIS(HP:0002650), BLUE SCLERAE(HP:0000592), ABSENT PULMONARY ARTERY(HP:0004960), ABNORMALITY OF THE EARS(HP:0000598), HYDRONEPHROSIS(HP:0000126), RECURRENT FRACTURES(HP:0002757)]
10516	FBLN5	[RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BLADDER DIVERTICULA(HP:0000015), AORTIC INSUFFICIENCY(HP:0001659), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), INGUINAL HERNIA(HP:0000023), ABNORMALITY OF THE FACE(HP:0000271), MITRAL REGURGITATION(HP:0001653), EMPHYSEMA(HP:0002097), SUPRAVALVULAR AORTIC STENOSIS(HP:0004381), JOINT LAXITY(HP:0001388), DIAPHRAGMATIC HERNIA(HP:0000776), LOOSE, REDUNDANT SKIN(HP:0001582), HETEROGENEOUS(HP:0001425), VASCULAR TORTUOSITY(HP:0004948), PECTUS EXCAVATUM(HP:0000767), UMBILICAL HERNIA(HP:0001537), ASCENDING AORTIC ANEURYSM(HP:0002631), OLIGOHYDRAMNIOS(HP:0001562)]
10555	AGPAT2	[ACANTHOSIS NIGRICANS(HP:0000956), ACCELERATED SKELETAL MATURATION(HP:0005616), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED SERUM LEPTIN(HP:0003292), NEARLY COMPLETE ABSENCE OF METABOLICALLY ACTIVE ADIPOSE TISSUE (SUBCUTANEOUS, INTRAABDOMINAL, INTRATHORACIC)(HP:0003809), DECREASED FERTILITY(HP:0000144), POLYCYSTIC OVARIES(HP:0000147), PANCREATITIS, ACUTE(HP:0001735), HEPATIC STEATOSIS(HP:0001397), POLYPHAGIA(HP:0002591), CIRRHOSIS(HP:0001394), SPLENOMEGALY(HP:0001744), LYTIC CYSTIC LESIONS IN APPENDICULAR BONES (OCCURS AFTER PUBERTY)(HP:0002833), CLITOROMEGALY(HP:0000057), MANDIBULAR PROGNATHIA(HP:0000303), HETEROGENEOUS(HP:0001425), LABIAL HYPERTROPHY(HP:0000065), DECREASED FERTILITY IN FEMALES(HP:0000868), LARGE FEET(HP:0001833), HIRSUTISM(HP:0001007), LARGE HANDS(HP:0001176), LIPODYSTROPHY(HP:0009125), INSULIN-RESISTANT DIABETES MELLITUS AT PUBERTY(HP:0000877), HEPATOMEGALY(HP:0002240), PROMINENT UMBILICUS(HP:0001544), UMBILICAL HERNIA(HP:0001537), GENERALIZED MUSCULAR APPEARANCE FROM BIRTH(HP:0003716), HYPERINSULINEMIA(HP:0000842), INCREASED LINEAR GROWTH(HP:0003515), HYPERTRIGLYCERIDEMIA(HP:0002155)]
10558	SPTLC1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOAMPUTATION(HP:0001218), ABNORMALITY OF THE SKIN(HP:0000951), DISTAL SENSORY LOSS OF ALL MODALITIES(HP:0006984), HEARING LOSS, SENSORINEURAL(HP:0000407), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS(HP:0003483), EMG SHOWS CHRONIC AXONAL NEUROPATHY(HP:0007267), OSTEOMYELITIS OR NECROSIS, DISTAL, DUE TO SENSORY NEUROPATHY (FEET)(HP:0001886), METABOLISM ABNORMALITY(HP:0001939), LOSS OF LARGE MYELINATED FIBERS(HP:0003387), DECREASED SENSORY NERVE CONDUCTION VELOCITIES (NCV)(HP:0003448), AUTOAMPUTATION (FEET)(HP:0001868)]
10559	SLC35A1	[RECURRENT BACTERIAL INFECTIONS(HP:0002718), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEUTROPENIA(HP:0001875), THROMBOCYTOPENIA(HP:0001873), ONSET IN INFANCY(HP:0003576)]
10560	SLC19A2	[DIABETES MELLITUS(HP:0000819), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE SKIN(HP:0000951), HEARING LOSS, SENSORINEURAL(HP:0000407), CONGENITAL SEPTAL DEFECT(HP:0004760), PROGRESSIVE SCAPULOPERONEAL ATROPHY(HP:0008957), HOARSE VOICE(HP:0001609), MITOCHONDRIAL INHERITANCE(HP:0001427), SITUS INVERSUS(HP:0001696), ABDOMINAL SITUS INVERSUS(HP:0003363), AMINOACIDURIA(HP:0002903), MEGALOBLASTIC ANEMIA RESPONSIVE ONLY TO THIAMINE(HP:0004860)]
10568	SLC34A2	[SLOW PROGRESSION(HP:0003677), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RESTRICTIVE RESPIRATORY INSUFFICIENCY(HP:0002111), INTRAALVEOLAR NODULAR CALCIFICATIONS(HP:0006514), PROGRESSIVE PULMONARY FUNCTION IMPAIRMENT(HP:0006520), VARIABLE AGE AT ONSET(HP:0003618)]
10577	NPC2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEUROFIBRILLARY TANGLES(HP:0002185), HIGHLY VARIABLE PHENOTYPE(HP:0003815), FETAL ASCITES(HP:0001791), CEREBELLAR ATAXIA(HP:0001253), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), HIGHLY VARIABLE PHENOTYPE AND AGE OF ONSET(HP:0003664), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), SPASTICITY(HP:0001257), SPLENOMEGALY(HP:0001744), MENTAL DETERIORATION(HP:0001268), FOAM CELLS CONTAIN POLYMORPHIC CYTOPLASMIC INCLUSIONS CONSISTING OF LAMELLAR OSMIOPHILIC MEMBRANES ON ELECTRON MICROSCOPY(HP:0003650), RESPIRATORY INSUFFICIENCY(HP:0002093), HYPOKINESIA(HP:0002375), FOAM CELLS ON BONE MARROW BIOPSY(HP:0004333), HETEROGENEOUS(HP:0001425), LOSS OF SPEECH(HP:0002371), FOAM CELLS IN VISCERAL ORGANS AND CNS(HP:0003640), EARLY DEATH(HP:0001432), 'SEA-BLUE' HISTIOCYTES(HP:0001982), ABNORMAL CHOLESTEROL HOMEOSTASIS(HP:0003464), PERSEVERATIVE BEHAVIOR(HP:0008759), CATAPLEXY(HP:0002524), HEPATOMEGALY(HP:0002240), LOW CHOLESTEROL ESTERIFICATION RATES(HP:0003349), NEONATAL JAUNDICE(HP:0000986), VERTICAL SUPRANUCLEAR GAZE PALSY(HP:0000511), PSYCHOSIS(HP:0000709), DYSTONIA(HP:0001332), POOR SCHOOL PERFORMANCE(HP:0000730), DEMENTIA(HP:0000726)]
10585	POMT1	[EXTERNAL AUDITORY CANAL ATRESIA(HP:0000413), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL MALFORMATION(HP:0007901), HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079), MICROTIA(HP:0000393), MENTAL RETARDATION, PROFOUND(HP:0002187), EXCESSIVE DAYTIME SLEEPINESS(HP:0002189), ANAL ATRESIA(HP:0002023), MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES(HP:0003544), MICROPHTHALMOS(HP:0000568), MILD JOINT CONTRACTURES(HP:0005053), TYPE II LISSENCEPHALY(HP:0007260), CATARACT(HP:0000518), MUSCULAR HYPOTONIA(HP:0001252), SLOW PROGRESSION(HP:0003677), SEIZURES(HP:0001250), DIFFICULTY WALKING, RUNNING, CLIMBING STAIRS(HP:0009046), DEVELOPMENTAL RETARDATION(HP:0001263), LIMB-GIRDLE MUSCLE WEAKNESS(HP:0003325), MOTOR RETARDATION(HP:0001270), DIFFICULTY WALKING, RUNNING(HP:0009030), OCCIPITAL ENCEPHALOCELE(HP:0002085), DETACHED RETINA(HP:0000541), AGENESIS OF CORPUS CALLOSUM(HP:0001274), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), PETERS ANOMALY(HP:0000659), CLEFT LIP(HP:0000204), DANDY-WALKER MALFORMATION(HP:0001305), HETEROGENEOUS(HP:0001425), OPTIC NERVE HYPOPLASIA(HP:0000609), CONGENITAL CONTRACTURES(HP:0002803), ABNORMALITY OF THE GENITAL TRACT(HP:0000078), PACHYGYRIA(HP:0001302), ANTERIOR CHAMBER MALFORMATION(HP:0007699), VENTRICULOMEGALY(HP:0002119), LUMBAR HYPERLORDOSIS(HP:0002938), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), INCREASED CREATINE KINASE(HP:0003078), HYDROCEPHALUS(HP:0000238), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), RETINAL DYSPLASIA(HP:0007973), RENAL DYSPLASIA(HP:0000110), GLAUCOMA(HP:0000501), CONGENITAL MUSCULAR DYSTROPHY(HP:0003741), COLOBOMA(HP:0000589), THICK CEREBRAL CORTEX(HP:0006891), MICROCEPHALY(HP:0000252), MENINGOENCEPHALOCELE(HP:0006888), EASY FATIGABILITY(HP:0003388), INCREASED SERUM CREATINE KINASE(HP:0002147), MEGALOCORNEA(HP:0000485)]
10594	PRPF8	[CONSTRICTED VISUAL FIELDS(HP:0001133), RETINAL DEGENERATION(HP:0000546), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RETINITIS PIGMENTOSA TYPE I(HP:0007645), NIGHT BLINDNESS(HP:0000662)]
10653	SPINT2	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABDOMINAL DISTENTION(HP:0003270), CONGENITAL SECRETORY DIARRHEA(HP:0005208), POLYHYDRAMNIOS(HP:0001561)]
10682	EBP	[PUNCTATE CALCIFICATIONS OF TARSALS(HP:0008131), MALAR HYPOPLASIA(HP:0000272), DISLOCATION OF PATELLA(HP:0002999), MICROPHTHALMOS(HP:0000568), CATARACT(HP:0000518), SPARSE EYEBROWS(HP:0000535), DANDY-WALKER MALFORMATION(HP:0001305), ELEVATED 8-DEHYDROCHOLESTEROL(HP:0003462), STIPPLING OF THE EPIPHYSES(HP:0010655), TRACHEAL CALCIFICATIONS(HP:0002787), NYSTAGMUS(HP:0000639), TRACHEAL STENOSIS(HP:0002777), POLYHYDRAMNIOS(HP:0001561), HYDRONEPHROSIS(HP:0000126), HEARING LOSS(HP:0000365), ICHTHYOSIS(HP:0000955), BILATERAL CLUB FEET(HP:0001776), DYSPLASTIC EARS(HP:0000398), SPARSE EYELASHES(HP:0000653), FRONTAL BOSSING(HP:0002007), VERTEBRAL CALCIFICATIONS(HP:0008420), MILD-TO-MODERATE GROWTH DEFICIENCY(HP:0008901), FAILURE TO THRIVE(HP:0001508), STIPPLED CALCIFICATION IN CARPAL BONES(HP:0004241), SHORT NECK(HP:0000470), VENTRICULOMEGALY(HP:0002119), ABNORMALITY OF THE THORAX(HP:0000765), HEMIVERTEBRAE(HP:0002937), X-LINKED DOMINANT INHERITANCE(HP:0001423), ABNORMALITY OF THE PELVIS(HP:0002644), GLAUCOMA(HP:0000501), SCOLIOSIS(HP:0002650), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA(HP:0007431), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), ASYMMETRIC LIMB SHORTENING(HP:0005091)]
10683	DLL3	[RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SHORT NECK(HP:0000470), HEMIVERTEBRAE(HP:0002937), SHORT TRUNK(HP:0001524), DEATH IN INFANCY(HP:0001522), VERTEBRAL FUSION(HP:0002948), RIB FUSION(HP:0000902), DWARFISM(HP:0001516), ABNORMALITY OF THE ODONTOID PROCESS(HP:0003310), BLOCK VERTEBRAE(HP:0003305)]
10686	CLDN16	[MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RECURRENT URINARY TRACT INFECTIONS(HP:0000010), FEEDING DIFFICULTIES(HP:0002022), ABDOMINAL PAIN(HP:0002027), HEMATURIA(HP:0000790), KIDNEY STONES(HP:0000787), SEIZURES(HP:0001250), FAILURE TO THRIVE(HP:0001508), ONSET IN EARLY CHILDHOOD(HP:0003580), HYPERMETROPIA(HP:0000540), HYPOMAGNESEMIA(HP:0002917), RENAL MAGNESIUM WASTING(HP:0005567), POLYDIPSIA(HP:0001959), TETANY(HP:0001281), NYSTAGMUS(HP:0000639), POLYURIA(HP:0000103), PROGRESSIVE RENAL INSUFFICIENCY(HP:0000106), HYPERCALCIURIA(HP:0002150), HYPERURICEMIA(HP:0002149), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483), NEPHROCALCINOSIS(HP:0000121)]
10743	RAI1	[MALAR HYPOPLASIA(HP:0000272), BROAD FACE(HP:0000283), HOARSE VOICE(HP:0001609), KIDNEY MALFORMATION(HP:0000792), CARDIAC MALFORMATION(HP:0002564), POLYNEUROPATHY(HP:0001271), BROAD NASAL BRIDGE(HP:0000431), SLEEP DISTURBANCES(HP:0002360), BRACHYDACTYLY(HP:0001156), SPEECH DELAY(HP:0002117), HYPERACTIVITY(HP:0000752), ISOLATED CASES(HP:0001420), SCOLIOSIS(HP:0002650), BRACHYCEPHALY(HP:0000248), HEARING LOSS(HP:0000365), WEAK OR ABSENT DEEP TENDON REFLEXES(HP:0001316)]
10786	SLC17A3	[DELAYED PUBERTY(HP:0000823), HYPERTENSION(HP:0000822), GOUTY ARTHRITIS(HP:0001368), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KETONEMIA(HP:0003543), HEMATURIA(HP:0000790), HEPATOCELLULAR CARCINOMA(HP:0001402), CHRONIC PANCREATITIS(HP:0006280), HEMATOLOGICAL ABNORMALITY(HP:0001871), PULMONARY HYPERTENSION(HP:0002092), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), CAPILLARY HEMANGIOMAS(HP:0005306), HEPATOMEGALY(HP:0002240), HYPERLIPIDEMIA(HP:0003077), METABOLIC ACIDOSIS(HP:0001942), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), XANTHOMATOSIS(HP:0000991), HEPATOBLASTOMA(HP:0002884), FOCAL SEGMENTAL GLOMERULOSCLEROSIS(HP:0000097), HYPERURICEMIA(HP:0002149), REDUCED CREATININE CLEARANCE(HP:0000120)]
10801	SEPT9	[NERVE BIOPSY OF AFFECTED REGION MAY SHOW AXONAL DEGENERATION(HP:0006876), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DECREASED BODY HEIGHT(HP:0004322), EPICANTHUS(HP:0000286), FACIAL ASYMMETRY(HP:0000324), CLEFT PALATE(HP:0000175), HYPOTELORISM(HP:0000601)]
10804	GJB6	[ABNORMALITY OF THE FEET(HP:0001760), HYPERPIGMENTATION(HP:0000953), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), FINE, BRITTLE, SLOW-GROWING HAIR(HP:0004767), ONYCHODYSTROPHY, SEVERE(HP:0008408), SPARSE EYELASHES(HP:0000653), CATARACT(HP:0000518), ABNORMALITY OF THE TEETH(HP:0000164), SPARSE EYEBROWS(HP:0000535), ABSENT AXILLARY HAIR(HP:0002221), ABNORMALITY OF THE HAND(HP:0001155), PHOTOPHOBIA(HP:0000613), DECREASED BODY HEIGHT(HP:0004322), CONJUNCTIVITIS(HP:0000509), BLEPHARITIS(HP:0000498), ONYCHOLYSIS(HP:0001806), PALMOPLANTAR HYPERKERATOSIS(HP:0000972), ABSENT PUBIC HAIR(HP:0002555), STRABISMUS(HP:0000486), NAIL HYPOPLASIA(HP:0001792)]
10841	FTCD	[POSITIVE FERRIC CHLORIDE TEST(HP:0003612), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GROWTH RETARDATION(HP:0001510), MENTAL DEFICIENCY(HP:0001267), MEGALOBLASTIC ANEMIA(HP:0001889), HYPERSEGMENTATION OF NEUTROPHIL NUCLEI(HP:0004821)]
10913	EDAR	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANODONTIA(HP:0000674), INTOLERANCE TO HEAT AND FEVER(HP:0002046), MISSHAPEN TEETH(HP:0000697), MICRODONTIA(HP:0000691), PERIORBITAL HYPERPIGMENTATION(HP:0001106), FINE, SLOW-GROWING HAIR(HP:0004781), FRONTAL BOSSING(HP:0002007), FLATTENED NASAL BRIDGE(HP:0000425), HYPODONTIA(HP:0000668), PROMINENT LIPS(HP:0000184), SPARSE EYEBROWS AND EYELASHES(HP:0002222), HYPOTRICHOSIS(HP:0001006), NAIL DYSPLASIA(HP:0002164), HYPOHIDROSIS(HP:0000966), PERIORBITAL WRINKLES(HP:0000607)]
10984	KCNQ1OT1	[CARDIOMEGALY(HP:0001640), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), COARSE FACIAL FEATURES(HP:0000280), CARDIOMYOPATHY(HP:0001638), MACROGLOSSIA(HP:0000158), CRYPTORCHIDISM(HP:0000028), GONADOBLASTOMA(HP:0000150), PROMINENT OCCIPUT(HP:0000269), HEMIHYPERTROPHY(HP:0001528), ADRENOCORTICAL CYTOMEGALY(HP:0008186), NEONATAL HYPOGLYCEMIA(HP:0001998), PANCREATIC HYPERPLASIA(HP:0006277), ABNORMALITY OF THE EYES(HP:0000478), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), HEPATOMEGALY(HP:0002240), LARGE FONTANELLES(HP:0000239), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), HEPATOBLASTOMA(HP:0002884), DIASTASIS RECTI(HP:0001540), ADRENAL CARCINOMA(HP:0002889), OMPHALOCELE(HP:0001539), ENLARGED KIDNEYS(HP:0000105), ABNORMALITY OF THE EARS(HP:0000598), OVERGROWTH OF EXTERNAL GENITALIA(HP:0003247)]
11005	SPINK5	[ERYTHRODERMA(HP:0001019), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), URTICARIA(HP:0001025), INCREASED IGE LEVEL(HP:0003212), ASTHMA(HP:0002099), RECURRENT INFECTIONS(HP:0002719), SPARSE, BRITTLE SCALP HAIR(HP:0004779), ABNORMALITY OF MUSCULATURE(HP:0003011), DEVELOPMENTAL RETARDATION(HP:0001263), CONGENITAL LAMELLAR ICHTHYOSIS(HP:0007388), FAILURE TO THRIVE(HP:0001508), SPARSE EYEBROWS(HP:0000535), ENTEROPATHY(HP:0002628), ECZEMA(HP:0000964), HYPERNATREMIC DEHYDRATION(HP:0004906)]
11078	TRIOBP	[HEARING LOSS, SENSORINEURAL, SEVERE TO PROFOUND(HP:0008534), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), PRELINGUAL ONSET(HP:0003631), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
11081	KERA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CORNEAL PARENCHYMAL OPACITIES(HP:0007662)]
11093	ADAMTS13	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SCHISTOCYTES(HP:0001981), CONFUSION(HP:0001289), RENAL FUNCTIONAL ABNORMALITY(HP:0000082), PROTEINURIA(HP:0000093), DECREASED HEMOGLOBIN(HP:0003136), INCREASED BLOOD UREA NITROGEN (BUN)(HP:0003138), TREMOR(HP:0001337), MICROANGIOPATHIC HEMOLYTIC ANEMIA(HP:0001937), INCREASED CREATININE(HP:0003259), THROMBOCYTOPENIA(HP:0001873), FEVER(HP:0001945), RETICULOCYTOSIS(HP:0001923), RESPIRATORY ABNORMALITY(HP:0002086), MICROSCOPIC HEMATURIA(HP:0002907)]
11136	SLC7A9	[CYSTINURIA(HP:0003131), KIDNEY STONES(HP:0000787), NEUROLOGICAL ABNORMALITY(HP:0000707), AMINOACIDURIA(HP:0002903)]
11141	IL1RAPL1	[MENTAL RETARDATION, MODERATE(HP:0002342), X-LINKED RECESSIVE INHERITANCE(HP:0001419), LEARNING DISABILITY(HP:0001328)]
11146	GLMN	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE SKIN(HP:0000951)]
11155	LDB3	[MUSCLE WEAKNESS, PROGRESSIVE, PROXIMAL(HP:0009073), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CARDIOMYOPATHY(HP:0001638), MUSCLE WEAKNESS, DISTAL, PROGRESSIVE(HP:0009063), EMG SHOWS NEUROGENIC ABNORMALITIES(HP:0002178), HYPOREFLEXIA OF LOWER LIMBS(HP:0002600), MUSCLE FIBER SPLITTING(HP:0003555), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), AUTOPHAGIC VACUOLES(HP:0003736), MUSCLE WEAKNESS, PROGRESSIVE(HP:0003323), POLYNEUROPATHY(HP:0001271), INCREASED SERUM CREATINE KINASE(HP:0002147), MUSCLE BIOPSY SHOWS MYOFIBRILLAR MYOPATHY(HP:0003715), LATE ONSET(HP:0003584)]
11178	LZTS1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
11181	TREH	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DIARRHEA(HP:0002014), VOMITING(HP:0002013), MALABSORPTION(HP:0002024)]
11186	RASSF1	[ALVEOLAR CELL CARCINOMA(HP:0006519), RESPIRATORY ABNORMALITY(HP:0002086), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
11200	CHEK2	[ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), METABOLISM ABNORMALITY(HP:0001939), OSTEOGENIC SARCOMA(HP:0002669)]
11231	SEC63	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE URINARY TRACT(HP:0000079), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), ABDOMINAL DISTENTION(HP:0003270), BACK PAIN(HP:0003418), BLEEDING DIATHESIS(HP:0001892), RESPIRATORY DIFFICULTIES(HP:0002880), INCREASED TOTAL BILIRUBIN MAY OCCUR(HP:0008168), NEUROLOGICAL ABNORMALITY(HP:0000707), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), POLYCYSTIC LIVER DISEASE(HP:0006557), DYSPNEA(HP:0002094)]
11234	HPS5	[INFLAMMATORY BOWEL DISEASE(HP:0002037), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTERSTITIAL FIBROSIS(HP:0000129), CARDIOMYOPATHY(HP:0001638), ABDOMINAL PAIN(HP:0002027), BLEEDING DIATHESIS(HP:0001892), OCULAR ALBINISM(HP:0001107), FRECKLING(HP:0001480), RESTRICTIVE LUNG DISEASE(HP:0002091), EPISTAXIS(HP:0000421), LIFELONG REDUCED VISUAL ACUITY, LEGAL BLINDNESS TO LOW VISION(HP:0007640), HETEROGENEOUS(HP:0001425), ALBINISM(HP:0001022), BLOODY DIARRHEA(HP:0002255), FRECKLES IN SUN-EXPOSED AREAS(HP:0007603), HAIR ABNORMALITY(HP:0001595), RENAL FAILURE(HP:0000083), PIGMENTED NEVI(HP:0000995), NYSTAGMUS(HP:0000639), ECCHYMOSES(HP:0000978), PROLONGED BLEEDING TIME(HP:0003010), GINGIVAL BLEEDING(HP:0000225)]
11236	RNF139	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MULTIPLE TUMORS(HP:0003008), EARLY ONSET(HP:0003593), ERYTHROCYTOSIS(HP:0001901), PAPILLARY RENAL CELL CARCINOMA(HP:0006766)]
11277	TREX1	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), JAUNDICE(HP:0000952), EXTRAPYRAMIDAL SIGNS(HP:0002071), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), MENTAL RETARDATION, PROFOUND(HP:0002187), FEEDING DIFFICULTIES(HP:0002022), ENCEPHALOPATHY, PROGRESSIVE(HP:0002448), RETINAL HEMORRHAGE(HP:0000573), MULTIPLE GASTRIC POLYPS(HP:0004394), ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062), SEIZURES(HP:0001250), RAPIDLY PROGRESSIVE(HP:0003678), IMMUNOLOGICAL ABNORMALITY(HP:0002715), DEVELOPMENTAL RETARDATION(HP:0001263), ELEVATED ERYTHROCYTE SEDIMENTATION RATE(HP:0003565), THROMBOCYTOPENIA(HP:0001873), ARTHRALGIA(HP:0002829), DYSARTHRIA(HP:0001260), HEMIPARESIS(HP:0001269), RETINAL EXUDATES(HP:0001147), ONSET IN EARLY CHILDHOOD(HP:0003580), PERIVENTRICULAR LEUKOMALACIA(HP:0006970), BASAL GANGLIA CALCIFICATION(HP:0002135), HETEROGENEOUS(HP:0001425), HEPATOSPLENOMEGALY(HP:0001433), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), ABNORMALITY OF THE NAILS(HP:0001597), CEREBRAL CALCIFICATION(HP:0002514), NYSTAGMUS(HP:0000639), LOWER LIMB HYPERREFLEXIA(HP:0002395), CENTRAL NERVOUS SYSTEM DEGENERATION(HP:0007009), ANTINUCLEAR ANTIBODY POSITIVE(HP:0003493), IMPAIRED VISION(HP:0000505), DEEP WHITE MATTER HYPODENSITIES(HP:0007321), PROGRESSIVE FORGETFULNESS(HP:0007017), PURPURA(HP:0000979), DYSTONIA(HP:0001332), ACROCYANOSIS(HP:0001063), FEVER(HP:0001945), POOR HEAD CONTROL(HP:0002421), MICROCEPHALY, PROGRESSIVE(HP:0000253), CEREBRAL ATROPHY, PROGRESSIVE(HP:0002422), CHILBLAIN LESIONS(HP:0009710), VASCULITIS(HP:0002633), INCREASED CSF INTERFERON ALPHA(HP:0009709), STRABISMUS(HP:0000486), PETECHIAE(HP:0000967), CHRONIC CSF LYMPHOCYTOSIS(HP:0009704)]
11285	B4GALT7	[PES PLANUS(HP:0001763), SMALL FACE(HP:0000274), TRANSVERSE PALMAR CREASES(HP:0000954), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MACROCEPHALY(HP:0000256), OSTEOPENIA(HP:0000938), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), MICROSTOMIA(HP:0000160), NARROW CHEST(HP:0000774), JOINT LAXITY(HP:0001388), RADIOULNAR SYNOSTOSIS(HP:0002974), FAILURE TO THRIVE(HP:0001508), BROAD NASAL BRIDGE(HP:0000431), SPARSE SCALP HAIR(HP:0002209), PROMINENT EYES(HP:0000536), COXA VALGA(HP:0002673), CUTIS GYRATA OF PALMS AND SOLES(HP:0007469), BIFID UVULA(HP:0000193), DECREASED BODY HEIGHT(HP:0004322), ARACHNODACTYLY(HP:0001166), SHORT CLAVICLES(HP:0000894), METABOLISM ABNORMALITY(HP:0001939), THIN, ATROPHIC SCARS(HP:0007567), ABNORMALITY OF THE EARS(HP:0000598)]
11315	PARK7	[BRADYKINESIA(HP:0002067), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RESTING TREMOR(HP:0002322), RIGIDITY(HP:0002063), SLOW PROGRESSION(HP:0003677), POSTURAL TREMOR(HP:0002174), ONSET BEFORE AGE 2 YEARS(HP:0003667), BLEPHAROSPASM MAY OCCUR(HP:0007907), ONSET BEFORE AGE 40 YEARS(HP:0003598), PSYCHOTIC EPISODES(HP:0000725)]
11322	TMC6	[METABOLISM ABNORMALITY(HP:0001939), BASAL CELL CARCINOMA(HP:0002671)]
22845	DOLK	[ABNORMAL ISOELECTRIC FOCUSING OF SERUM TRANSFERRIN(HP:0003160), DILATED CARDIOMYOPATHY(HP:0001644), ICHTHYOSIS(HP:0000955), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MICROCEPHALY, ACQUIRED(HP:0000259), SPARSE EYELASHES(HP:0000653), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEATH IN INFANCY(HP:0001522), FAILURE TO THRIVE(HP:0001508), HYPOKETOTIC HYPOGLYCEMIA(HP:0001985), SPARSE EYEBROWS(HP:0000535), HYPSARRHYTHMIA(HP:0002521)]
22868	FASTKD2	[RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LIVER BIOPSY SHOWS INCREASED LIPID DROPLETS(HP:0006565), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), ANEMIA(HP:0001903), LIVER DYSFUNCTION(HP:0004393), EXERCISE INTOLERANCE(HP:0003546), EXERTIONAL DYSPNEA(HP:0002875), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), DEVELOPMENTAL RETARDATION(HP:0001263), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), RENAL FANCONI SYNDROME(HP:0001994), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HYPOKINESIA(HP:0002375), HETEROGENEOUS(HP:0001425), MUSCLE BIOPSY SHOWS DECREASE OR ABSENCE OF CYTOCHROME C OXIDASE(HP:0009006), PROTEINURIA(HP:0000093), GLYCOSURIA(HP:0003076), HEPATOMEGALY(HP:0002240), PTOSIS(HP:0000508), RESPIRATORY DIFFICULTIES(HP:0002880), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), INCREASED SERUM LACTATE(HP:0002151), AMINOACIDURIA(HP:0002903), RENAL TUBULAR DYSFUNCTION(HP:0000124), HYPERPHOSPHATURIA(HP:0003109)]
22930	RAB3GAP1	[KYPHOSCOLIOSIS(HP:0002751), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LARGE EARS(HP:0000400), HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079), OSTEOPOROSIS(HP:0000939), CEREBRAL ATROPHY(HP:0002059), CRYPTORCHIDISM(HP:0000028), HYPERREFLEXIA(HP:0001347), MICROPHTHALMOS(HP:0000568), MUSCULAR HYPOTONIA(HP:0001252), CONGENITAL CATARACT(HP:0000519), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), FACIAL HYPERTRICHOSIS(HP:0002219), SPASTIC DIPLEGIA(HP:0001264), AGENESIS OF CORPUS CALLOSUM(HP:0001274), POSTNATAL FAILURE TO THRIVE(HP:0008916), DECREASED BODY HEIGHT(HP:0004322), PTOSIS(HP:0000508), MICROCEPHALY(HP:0000252), GENITAL HYPOPLASIA(HP:0003241), MICROCORNEA(HP:0000482)]
22934	RPIA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PSYCHOMOTOR RETARDATION(HP:0001255), CEREBELLAR ATAXIA(HP:0001253), METABOLISM ABNORMALITY(HP:0001939), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), SPASTICITY(HP:0001257), LEUKOENCEPHALOPATHY(HP:0002352)]
22948	CCT5	[NEUROPATHY(HP:0003407), SPASTIC GAIT(HP:0002064), ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DISTAL AMYOTROPHY(HP:0003693), LOWER LIMB SPASTICITY(HP:0002061), HYPERREFLEXIA(HP:0001347), NORMAL OR MILDLY DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003437), DISTAL SENSATION LOSS(HP:0006843), RAPIDLY PROGRESSIVE(HP:0003678), SPASTIC PARAPLEGIA(HP:0001258), DISTAL ULCERATION AND OSTEOMYELITIS LEADING TO AUTOAMPUTATION(HP:0005040), MRI SHOWS ATROPHY OF THE SPINAL CORD(HP:0006827), ONSET IN EARLY CHILDHOOD(HP:0003580), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), DISTAL SENSORY LOSS OF ALL MODALITIES(HP:0006984), AXONAL NEUROPATHY(HP:0003477), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), BABINSKI SIGN(HP:0003487), METABOLISM ABNORMALITY(HP:0001939), CLONUS(HP:0002169), OSTEOMYELITIS(HP:0002754)]
22954	TRIM32	[HYPERTENSION(HP:0000822), DIABETES MELLITUS(HP:0000819), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), SHOULDER GIRDLE MUSCLE WEAKNESS(HP:0003547), MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES(HP:0003544), HIGHLY VARIABLE PHENOTYPE AND SEVERITY(HP:0003821), INCREASED VARIABILITY IN MUSCLE FIBER SIZE(HP:0003557), CATARACT(HP:0000518), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), ABNORMALITY OF THE KIDNEYS(HP:0000077), FACIAL MUSCLE WEAKNESS(HP:0010628), PELVIC GIRDLE MUSCLE WEAKNESS(HP:0003749), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), WADDLING GAIT(HP:0002515), AREFLEXIA(HP:0001284), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), QUADRICEPS MUSCLE WEAKNESS(HP:0003731), PELVIC GIRDLE MUSCLE ATROPHY(HP:0008988), LEARNING DISABILITY(HP:0001328), EXERCISE-INDUCED MYALGIA(HP:0003738), BILIARY TRACT ABNORMALITY(HP:0001080), SHOULDER GIRDLE MUSCLE ATROPHY(HP:0003724), DECREASED TESTICULAR SIZE(HP:0008734), HEARING LOSS(HP:0000365), NECK FLEXOR WEAKNESS(HP:0003722), CALF MUSCLE PSEUDOHYPERTROPHY(HP:0003707), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), SHORT, BROAD FEET(HP:0001773), HYPOGONADISM(HP:0000135), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), CENTRALIZED NUCLEI(HP:0003687), ASTHMA(HP:0002099), SLOW PROGRESSION(HP:0003677), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), HYPOREFLEXIA(HP:0001265), OBESITY(HP:0001513), POOR COORDINATION(HP:0002370), CLINODACTYLY OF HANDS(HP:0001157), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), HIRSUTISM(HP:0001007), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), INCREASED SERUM CREATINE KINASE(HP:0002147), GOWER SIGN(HP:0003391), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
23064	SETX	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE SEVERITY(HP:0003814), DISTAL MUSCLE WEAKNESS(HP:0002460), HYPERREFLEXIA(HP:0001347), CONJUNCTIVAL TELANGIECTASIA(HP:0000524), GENERALIZED MUSCLE WEAKNESS(HP:0003324), PALLOR OF DORSAL COLUMNS OF THE SPINAL CORD(HP:0006825), PONTOCEREBELLAR ATROPHY(HP:0006879), AMYOTROPHIC LATERAL SCLEROSIS(HP:0007354), SURAL NERVE BIOPSY SHOWS LOSS OF LARGE MYELINATED FIBERS(HP:0006868), BABINSKI SIGN(HP:0003487), AREFLEXIA(HP:0001284), SPINOCEREBELLAR ATAXIA(HP:0002513), TREMOR(HP:0001337), HYPERGAMMAGLOBULINEMIA(HP:0004435), LOSS OF SPINAL CORD ANTERIOR HORN CELLS(HP:0007136), DECREASED DISTAL VIBRATION SENSE(HP:0006886), PES CAVUS(HP:0001761), DIFFUSE AXONAL SWELLING(HP:0003405), LIMB ATAXIA(HP:0002070), WEAKNESS(HP:0002309), CHOREA(HP:0002072), DISTAL AMYOTROPHY(HP:0003693), SLOW PROGRESSION(HP:0003677), PROGRESSIVE DISORDER(HP:0003676), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003431), DYSARTHRIA(HP:0001260), GAZE-EVOKED NYSTAGMUS(HP:0000640), DYSPHAGIA(HP:0002015), DIFFICULTY WALKING(HP:0002355), SURAL NERVE BIOPSY SHOWS CHRONIC AXONAL NEUROPATHY(HP:0003446), OCULOMOTOR APRAXIA(HP:0000657), LOWER MOTOR NEURON SIGNS(HP:0002366), SACCADIC SMOOTH PURSUIT(HP:0001152), DECREASED DISTAL TOUCH SENSE(HP:0006981), GAIT ATAXIA, PROGRESSIVE(HP:0002142), ELEVATED ALPHA-FETOPROTEIN(HP:0006254), JUVENILE ONSET(HP:0003621), SCOLIOSIS(HP:0002650), CLONUS(HP:0002169), PALLOR(HP:0000980), INCREASED SERUM CREATINE KINASE(HP:0002147), ONSET IN ADOLESCENCE(HP:0003590), STRABISMUS(HP:0000486)]
23095	KIF1B	[CAFE-AU-LAIT SPOTS(HP:0000957), PES CAVUS(HP:0001761), HAMMER TOES(HP:0001765), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), HYPERTENSIVE RETINOPATHY(HP:0001095), DISTAL AMYOTROPHY(HP:0003693), TACHYCARDIA(HP:0001649), NORMAL OR MILDLY DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003437), CONGENITAL CATARACT(HP:0000519), SLOW PROGRESSION(HP:0003677), PEAK AGE OF ONSET IN SECOND DECADE (RANGE CHILDHOOD TO 50 YEARS)(HP:0003668), POSITIVE REGITINE TEST(HP:0003574), HYPOREFLEXIA(HP:0001265), HETEROGENEOUS(HP:0001425), HEMANGIOMAS(HP:0001028), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), HYPERCALCEMIA(HP:0003072), PROTEINURIA(HP:0000093), PHEOCHROMOCYTOMA(HP:0002666), DISTAL SENSORY IMPAIRMENT(HP:0002936), ELEVATED URINARY NOREPINEPHRINE(HP:0003345), EPISODIC HYPERTENSION(HP:0000875), AREFLEXIA(HP:0001284), CEREBRAL HEMORRHAGE(HP:0001342), DECREASED NUMBER OF MYELINATED FIBERS MAY BE FOUND(HP:0003385), AXONAL ATROPHY ON NERVE BIOPSY(HP:0003384), SMALL 'ONION BULBS' MAY BE PRESENT(HP:0003389), HYPERHIDROSIS(HP:0000975), RENAL ARTERY STENOSIS(HP:0001920), FOOT DROP(HP:0003377), 'STEPPAGE' GAIT(HP:0003376), AXONAL DEGENERATION/REGENERATION ON NERVE BIOPSY(HP:0003378)]
23111	SPG20	[DROOLING(HP:0002307), SPASTIC GAIT(HP:0002064), PES CAVUS(HP:0001761), CONTRACTURES(HP:0001371), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DISTAL AMYOTROPHY(HP:0003693), LOWER LIMB SPASTICITY(HP:0002061), HYPERREFLEXIA(HP:0001347), DYSARTHRIA(HP:0001260), SPASTIC PARAPLEGIA(HP:0001258), MENTAL RETARDATION, MILD(HP:0001256), DIFFICULTY WALKING(HP:0002355), ONSET IN EARLY CHILDHOOD(HP:0003580), HETEROGENEOUS(HP:0001425), DECREASED BODY HEIGHT(HP:0004322), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), KNEE AND ANKLE CLONUS(HP:0002541), EMOTIONAL LABILITY(HP:0000712), ABNORMALITY OF THE CEREBELLUM(HP:0001317)]
23169	SLC35D1	[STILLBORN OR NEONATAL DEATH(HP:0003826), MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MACROCEPHALY(HP:0000256), ADVANCED MATURATION/ADVANCED OSSIFICATION OF CARPAL BONES(HP:0004233), CLEFT PALATE(HP:0000175), ABNORMAL FORM OF THE VERTEBRAL BODIES(HP:0003312), NARROW CHEST(HP:0000774), STILLBIRTH(HP:0001624), FLAT ACETABULAR ROOFS(HP:0003180), SHORT RIBS(HP:0000773), HYPOPLASTIC SCAPULAE(HP:0000882), BRACHYDACTYLY(HP:0001156), SHORT NECK(HP:0000470), DUMBBELL-SHAPED SHORT LONG BONES(HP:0005075), MICROMELIC DWARFISM(HP:0008869), HOOKED CLAVICLES(HP:0000895), ADVANCED TARSAL OSSIFICATION(HP:0008108), POLYHYDRAMNIOS(HP:0001561), IRREGULAR METAPHYSES(HP:0003025)]
23175	LPIN1	[MYOGLOBINURIA(HP:0002913), ACUTE RENAL FAILURE(HP:0001919), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYALGIA(HP:0003326), RHABDOMYOLYSIS(HP:0003201), MUSCLE WEAKNESS(HP:0001324), HYPERKALEMIA(HP:0002153)]
23209	MLC1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MEGALENCEPHALY(HP:0001355), DIFFUSE SPONGIFORM LEUKOENCEPHALOPATHY(HP:0006943), DIFFUSE SWELLING OF CEREBRAL WHITE MATTER(HP:0007341), HYDROPS(HP:0000990), ATAXIA(HP:0001251), SEIZURES(HP:0001250), SPASTICITY(HP:0001257), MENTAL RETARDATION, MILD(HP:0001256), MOTOR RETARDATION(HP:0001270), EDEMA(HP:0000969), ONSET IN INFANCY(HP:0003576)]
23230	VPS13A	[DROOLING(HP:0002307), OROFACIAL DYSKINESIA(HP:0002310), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AGE OF ONSET(HP:0003674), CAUDATE ATROPHY(HP:0002340), SEIZURES(HP:0001250), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), HYPOREFLEXIA(HP:0001265), PERSONALITY CHANGES(HP:0000751), ANXIETY(HP:0000739), MOOD CHANGES(HP:0001575), PARKINSONISM(HP:0001300), SENSORY NEUROPATHY(HP:0000763), AMYOTROPHY(HP:0003202), SELF-MUTILATION OF TONGUE AND LIPS DUE TO INVOLUNTARY MOVEMENTS(HP:0008767), INCREASED CREATINE KINASE(HP:0003078), AGGRESSIVE BEHAVIOR(HP:0000718), PSYCHOSIS(HP:0000709), DYSTONIA(HP:0001332), PROGRESSIVE CHOREOATHETOSIS(HP:0007326), RED CELL ACANTHOCYTOSIS(HP:0001927), DISINHIBITION(HP:0000734), DEMENTIA(HP:0000726)]
23314	SATB2	[CLEFT PALATE(HP:0000175), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
23322	RPGRIP1L	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BOWING OF THE LEGS(HP:0002979), ANENCEPHALY(HP:0002323), MICROPHTHALMOS(HP:0000568), CLEFT PALATE(HP:0000175), GENU VARUM(HP:0002970), OCCIPITAL ENCEPHALOCELE(HP:0002085), CLEFT LIP(HP:0000204), HETEROGENEOUS(HP:0001425), GENU VARUS(HP:0003052), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), ABNORMALITY OF THE URINARY TRACT(HP:0000079), BILE DUCT PROLIFERATION(HP:0001408), POSTAXIAL POLYDACTYLY (FEET)(HP:0001830)]
23365	ARHGEF12	[FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
23400	ATP13A2	[HYPOKINESIA(HP:0002375), AKINESIA(HP:0002304), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HALLUCINATIONS(HP:0000738), PARKINSONISM(HP:0001300), BABINSKI SIGN(HP:0003487), HYPERREFLEXIA(HP:0001347), RIGIDITY(HP:0002063), AGE OF ONSET(HP:0003674), RAPIDLY PROGRESSIVE(HP:0003678), AGGRESSIVE BEHAVIOR(HP:0000718), SPASTICITY(HP:0001257), FAVORABLE RESPONSE TO LEVODOPA(HP:0002548), MASK-LIKE FACIES(HP:0000298), ANARTHRIA(HP:0002425), SUPRANUCLEAR GAZE PALSY(HP:0000605), PSYCHOTIC EPISODES(HP:0000725), DEMENTIA(HP:0000726)]
23405	DICER1	[METABOLISM ABNORMALITY(HP:0001939), FAMILIAL PREDISPOSITION(HP:0001472), NEOPLASIA(HP:0002664)]
23414	ZFPM2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BROAD FOREHEAD(HP:0000337), PREAURICULAR SINUS(HP:0004467), TETRALOGY OF FALLOT(HP:0001636), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), PROMINENT EYES(HP:0000536)]
23417	MLYCD	[MITOCHONDRIAL INHERITANCE(HP:0001427), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED BODY HEIGHT(HP:0004322), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), ABDOMINAL PAIN(HP:0002027), CHRONIC CONSTIPATION(HP:0002241), DEVELOPMENTAL DELAY IN EARLY CHILDHOOD(HP:0007005), METABOLIC ACIDOSIS(HP:0001942), HYPOGLYCEMIA(HP:0001943), MUSCULAR HYPOTONIA(HP:0001252), LACTIC ACIDEMIA(HP:0003128), SEIZURES(HP:0001250), KETOSIS(HP:0001946), DIARRHEA(HP:0002014), VOMITING(HP:0002013)]
23418	CRB1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY(HP:0007903), ESOTROPIA(HP:0000565), BONE CORPUSCLE FUNDUS PIGMENTATION(HP:0007823), VITREORETINAL DEGENERATION(HP:0000655), RETINITIS PIGMENTOSA(HP:0000510), HYPERMETROPIA(HP:0000540)]
23474	ETHE1	[ABNORMALITY OF THE EYES(HP:0000478), ETHYLMALONIC ACIDURIA(HP:0003219), EXTRAPYRAMIDAL SIGNS(HP:0002071), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ENCEPHALOPATHY(HP:0001298), MUSCLE BIOPSY SHOWS DECREASED ACTIVITY OF CYTOCHROME C OXIDASE(HP:0003688), CHRONIC DIARRHEA(HP:0002028), MUSCULAR HYPOTONIA(HP:0001252), LACTIC ACIDEMIA(HP:0003128), ATAXIA(HP:0001251), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), HYPERINTENSE LESIONS IN THE BASAL GANGLIA ON MRI(HP:0007183), PETECHIAE(HP:0000967)]
23479	ISCU	[MYOGLOBINURIA(HP:0002913), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EXERCISE INTOLERANCE(HP:0003546), PALPITATIONS(HP:0001962), MYOPATHY(HP:0003198), LACTIC ACIDEMIA(HP:0003128), SIDEROBLASTIC ANEMIA(HP:0001924), ABNORMAL IRON DEPOSITION IN MITOCHONDRIA(HP:0008306), DYSPNEA(HP:0002094), ONSET IN CHILDHOOD(HP:0003578)]
23495	TNFRSF13B	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MARKEDLY REDUCED IGG LEVELS(HP:0003294), DECREASED IGM LEVEL(HP:0003147), LYMPHADENOPATHY(HP:0002716), RECURRENT BACTERIAL INFECTIONS(HP:0002718), LOW PLASMA CELLS NUMBER IN BONE MARROW(HP:0002956), DIARRHEA(HP:0002014), BRONCHIECTASIS(HP:0002110), SPLENOMEGALY(HP:0001744), PNEUMONIA(HP:0002090), VARIABLE DEGREE OF T CELL DYSFUNCTION(HP:0002844), MARKEDLY REDUCED IGA LEVELS(HP:0003460), LYMPHOMA(HP:0002665), MENINGITIS(HP:0001287), ISOLATED CASES(HP:0001420), CONJUNCTIVITIS(HP:0000509), ACUTE OTITIS MEDIA(HP:0000371), ACUTE SINUSITIS(HP:0000255)]
23503	ZFYVE26	[SPASTIC GAIT(HP:0002064), PES CAVUS(HP:0001761), RETINAL DEGENERATION(HP:0000546), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), URINARY URGENCY(HP:0000012), SPHINCTER DISTURBANCE(HP:0000018), URINARY INCONTINENCE(HP:0000020), VARIABLE PHENOTYPE(HP:0003813), DISTAL AMYOTROPHY(HP:0003693), BOWEL INCONTINENCE(HP:0002607), HYPERREFLEXIA(HP:0001347), LOWER LIMB SPASTICITY(HP:0002061), AGE OF ONSET(HP:0003674), PROGRESSIVE DISORDER(HP:0003676), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), SPASTIC PARAPLEGIA(HP:0001258), SPHINCTER DISTURBANCES (BLADDER)(HP:0002839), PIGMENTED MACULAR DEGENERATION(HP:0007694), AXONAL NEUROPATHY(HP:0003477), HYPODYSPLASIA OF THE CORPUS CALLOSUM(HP:0006849), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), IMPAIRED VISION(HP:0000505), PSYCHOSIS(HP:0000709), CLONUS(HP:0002169), MOOD SWINGS(HP:0000720), ABNORMALITY OF THE CEREBELLUM(HP:0001317)]
23529	CLCF1	[ABNORMALITY OF THE FEET(HP:0001760), PROMINENT EARS(HP:0000412), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HIGH-ARCHED PALATE(HP:0000156), THORACOLUMBAR SCOLIOSIS(HP:0002944), CUBITUS VALGUS(HP:0002967), LIMITED ELBOW EXTENSION(HP:0001377), CLINODACTYLY OF HANDS(HP:0001157), FEEDING PROBLEMS IN INFANCY(HP:0008872), SYNDACTYLY(HP:0001159), LUMBAR HYPERLORDOSIS(HP:0002938), DIAPHORESIS(HP:0001064), SENSORIMOTOR NEUROPATHY(HP:0007141), HYPERHIDROSIS(HP:0000975), FACIAL MUSCLE WEAKNESS, MILD(HP:0000353)]
23545	ATP6V0A2	[PES PLANUS(HP:0001763), NEONATAL WRINKLED SKIN OF HANDS AND FEET(HP:0007414), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SCAPULAR WINGING(HP:0003691), INGUINAL HERNIA(HP:0000023), MUSCULAR HYPOTONIA(HP:0001252), FRONTAL BOSSING(HP:0002007), MENTAL RETARDATION(HP:0001249), DISLOCATED HIPS(HP:0002827), CARIOUS TEETH(HP:0000670), INTRAUTERINE GROWTH RETARDATION(HP:0001511), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), POORLY DEVELOPED SKELETAL MUSCULATURE(HP:0009034), METABOLISM ABNORMALITY(HP:0001939), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
23590	PDSS1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), HIGHLY VARIABLE PHENOTYPE(HP:0003815), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), VISUAL LOSS(HP:0000572), CEREBELLAR ATAXIA(HP:0001253), SEIZURES(HP:0001250), DYSARTHRIA(HP:0001260), MUSCLE WEAKNESS, PROGRESSIVE(HP:0003323), MOTOR RETARDATION(HP:0001270), MEMORY IMPAIRMENT(HP:0002354), MYOGLOBINURIA, EPISODIC(HP:0008313), CEREBELLAR ATROPHY(HP:0001272), ONSET IN CHILDHOOD(HP:0003578), HYPOKINESIA(HP:0002375), MYOGLOBINURIA(HP:0002913), ENCEPHALOPATHY(HP:0001298), RAGGED-RED MUSCLE FIBERS(HP:0003200), VARIABLE AGE AT ONSET(HP:0003618), NYSTAGMUS(HP:0000639), RETINITIS PIGMENTOSA(HP:0000510), NEPHROTIC SYNDROME(HP:0000100), LACTIC ACIDEMIA(HP:0003128), GLOMERULOSCLEROSIS(HP:0000096), LEARNING DISABILITY(HP:0001328), POSTURAL INSTABILITY(HP:0002172), SCANNING SPEECH(HP:0002168), INCREASED SERUM CREATINE KINASE(HP:0002147)]
23592	LEMD3	[HOARSE VOICE(HP:0001609), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF MUSCULATURE(HP:0003011), ABNORMALITY OF THE SKIN(HP:0000951), JOINT STIFFNESS(HP:0001387), OSTEOSCLEROSIS(HP:0010738)]
23600	AMACR	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), MALABSORPTION(HP:0002024), ONSET IN NEONATAL PERIOD(HP:0003623), HEPATOMEGALY(HP:0002240), NEONATAL JAUNDICE(HP:0000986), INTRAHEPATIC CHOLESTASIS(HP:0001406), COAGULOPATHY(HP:0001925), HYPERBILIRUBINEMIA(HP:0002904)]
23636	NUP62	[MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), CHOREOATHETOSIS OF THE FACE, TRUNK, EXTREMITIES(HP:0006811), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEVELOPMENTAL REGRESSION(HP:0002376), DEVELOPMENTAL ARREST(HP:0007281), NYSTAGMUS(HP:0000639), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), DYSTONIA(HP:0001332), DYSPHAGIA(HP:0002015), SPASTICITY(HP:0001257), FAILURE TO THRIVE(HP:0001508)]
25782	RAB3GAP2	[RECURRENT RESPIRATORY INFECTIONS(HP:0002205), PROMINENT NIPPLES(HP:0004405), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), CARDIOMYOPATHY(HP:0001638), EPICANTHUS(HP:0000286), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), MILD MAXILLARY HYPOPLASIA(HP:0004644), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), MICROPENIS(HP:0000054), PECTUS CARINATUM(HP:0000768), METATARSUS VARUS(HP:0001840), SHORT PHILTRUM(HP:0000322), HYPOPLASIA OF THE TOES(HP:0004701), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), TRACHEOMALACIA(HP:0002779), POSTERIORLY ROTATED EARS(HP:0000358), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), SLENDER ULNA(HP:0003992), TALIPES EQUINOVARUS(HP:0001762), ABNORMALITY OF THE TOENAILS(HP:0008388), MALALIGNED TEETH(HP:0000693), LOW NASAL BRIDGE(HP:0000428), FEEDING PROBLEMS IN INFANCY(HP:0008872), PROMINENT ANTITRAGUS(HP:0008593), DECREASED BODY HEIGHT(HP:0004322), PECTUS EXCAVATUM(HP:0000767), HIGH PALATE(HP:0000218), BROAD NASAL TIP(HP:0000455), LUMBAR HYPERLORDOSIS(HP:0002938), MICROGNATHIA(HP:0000210), MICROCEPHALY(HP:0000252), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), BRACHYCEPHALY(HP:0000248)]
25793	FBXO7	[TALIPES EQUINOVARUS(HP:0001762), BRADYKINESIA(HP:0002067), EXTRAPYRAMIDAL SIGNS(HP:0002071), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PARKINSONISM(HP:0001300), HYPERREFLEXIA(HP:0001347), BABINSKI SIGN(HP:0003487), RIGIDITY(HP:0002063), TREMOR(HP:0001337), METABOLISM ABNORMALITY(HP:0001939), POSTURAL INSTABILITY(HP:0002172), SPASTICITY(HP:0001257), ONSET BEFORE ADOLESCENCE(HP:0003659), ONSET IN ADOLESCENCE(HP:0003590)]
25814	ATXN10	[GAIT ATAXIA(HP:0002066), REDUCED PENETRANCE(HP:0003830), INCOORDINATION(HP:0002311), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), EXTRAPYRAMIDAL SIGNS(HP:0002071), LIMB ATAXIA(HP:0002070), PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073), DYSDIADOCHOKINESIS(HP:0002075), URINARY URGENCY(HP:0000012), URINARY INCONTINENCE(HP:0000020), HYPERREFLEXIA(HP:0001347), ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062), AGE OF ONSET(HP:0003674), SEIZURES(HP:0001250), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), CEREBELLAR ATROPHY(HP:0001272), DYSMETRIA(HP:0001310), COGNITIVE IMPAIRMENT(HP:0002128), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), NYSTAGMUS(HP:0000639), DEPRESSION(HP:0000716), GENETIC ANTICIPATION(HP:0003743), SCANNING SPEECH(HP:0002168), DEMENTIA(HP:0000726)]
25836	NIPBL	[DELAYED SKELETAL MATURATION(HP:0002750), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MYOPIA(HP:0000545), HIGHLY VARIABLE PHENOTYPE(HP:0003815), INGUINAL HERNIA(HP:0000023), CRYPTORCHIDISM(HP:0000028), WEAK CRY(HP:0001612), DOWNTURNED CORNERS OF MOUTH(HP:0002714), PROPTOSIS(HP:0000520), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), HYPOPLASTIC LABIA MAJORA(HP:0000059), VESICOURETERAL REFLUX(HP:0000076), PHOCOMELIA(HP:0009829), MICROBRACHYCEPHALY(HP:0002258), IMPAIRED RENAL FUNCTION(HP:0000087), ECTOPIC KIDNEY(HP:0000086), PROTEINURIA(HP:0000093), NYSTAGMUS(HP:0000639), RENAL HYPOPLASIA(HP:0000089), ABNORMALITY OF THE UMBILICUS(HP:0001551), CORTICOMEDULLARY CYSTS(HP:0000108), OPTIC NERVE COLOBOMA(HP:0000588), POLYCYSTIC KIDNEY(HP:0000113), HYPOPLASTIC MALE GENITALIA(HP:0008721), WIDELY SPACED TEETH(HP:0000687), DELAYED DENTITION(HP:0000684), HIGH-ARCHED PALATE(HP:0000156), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), SYNOPHRYS(HP:0000664), PNEUMONIA(HP:0002090), CLEFT LIP(HP:0000204), ABSENT/POOR CORTICOMEDULLARY DIFFERENTIATION(HP:0005565), DISLOCATED RADIAL HEAD(HP:0003083), THIN UPPER LIP(HP:0000219), OLIGODACTYLY (HANDS)(HP:0001180), MICROGNATHIA(HP:0000210), LOW POSTERIOR HAIRLINE(HP:0002162), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), MICROCEPHALY(HP:0000252), BROAD, BUSHY EYEBROWS(HP:0004546), JOINT DISLOCATION(HP:0001373), HYPOPLASIA OF THE RADIUS(HP:0002984), ELBOW CONTRACTURES(HP:0002987), MICROMELIA(HP:0002983), DUPLICATION OF INTERNAL ORGANS(HP:0005217), THROMBOCYTOPENIA(HP:0001873), LIMITED ELBOW EXTENSION(HP:0001377), DIAPHRAGMATIC HERNIA(HP:0000776), LONG PHILTRUM(HP:0000343), 2-3 TOE SYNDACTYLY(HP:0004691), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), SHORT STERNUM(HP:0000879), LOW-SET EARS(HP:0000369), HYPOPLASTIC NIPPLES(HP:0002557), CONDUCTIVE DEAFNESS(HP:0000367), HYPOPLASTIC RADIAL HEAD(HP:0003997), STRUCTURAL ANOMALIES OF THE RENAL TRACT(HP:0004735), HIATUS HERNIA(HP:0002036), TRANSVERSE PALMAR CREASES(HP:0000954), PROXIMALLY PLACED THUMB(HP:0009623), HEARING LOSS, SENSORINEURAL(HP:0000407), PYLORIC STENOSIS(HP:0002021), GASTROESOPHAGEAL REFLUX(HP:0002020), LANGUAGE DELAY(HP:0002336), FLATTENED NASAL BRIDGE(HP:0000425), PRENATAL GROWTH DEFICIENCY(HP:0001515), MALROTATION OF COLON(HP:0004785), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), NARES, ANTEVERTED(HP:0000463), HYPERTONICITY(HP:0002388), HIRSUTISM(HP:0001007), CHOANAL ATRESIA(HP:0000453), ISOLATED CASES(HP:0001420), PTOSIS(HP:0000508), LONG, CURLY EYELASHES(HP:0000500), SUPERNUMERARY RIBS(HP:0005815), STRABISMUS(HP:0000486), CUTIS MARMORATA(HP:0000965), ASTIGMATISM(HP:0000483), MICROCORNEA(HP:0000482)]
25915	NDUFAF3	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BLINDNESS(HP:0000618), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), MUSCLE WEAKNESS(HP:0001324), HEARING LOSS, SENSORINEURAL(HP:0000407), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LEUKODYSTROPHY(HP:0002415), STRABISMUS(HP:0000486)]
25953	PNKD	[FACIAL GRIMACING(HP:0000273), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TORTICOLLIS(HP:0000473), INVOLUNTARY MOVEMENTS OF EXTREMITIES, NECK, TRUNK, AND/OR FACE(HP:0007120), DYSTONIA, EPISODIC(HP:0002412), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), CHOREOATHETOSIS, EPISODIC(HP:0002351), MYOKYMIA(HP:0002411), CHOREOATHETOSIS(HP:0001266), ONSET IN INFANCY OR CHILDHOOD(HP:0003583)]
25974	MMACHC	[CYSTATHIONINEMIA(HP:0003286), DECREASED METHIONINE SYNTHASE (MTR, 156570) ACTIVITY(HP:0003524), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LONG FACE(HP:0000276), THROMBOEMBOLISM(HP:0001907), MEGALOBLASTIC ANEMIA(HP:0001889), HEMATURIA(HP:0000790), NEUTROPENIA(HP:0001875), THROMBOCYTOPENIA(HP:0001873), FLAT PHILTRUM(HP:0000319), ONSET IN ADULTHOOD(HP:0003581), DECREASED METHYLCOBALAMIN (MECBL)(HP:0003223), HIGH FOREHEAD(HP:0000348), CONFUSION(HP:0001289), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), DECREASED METHYLMALONYL-COA MUTASE ACTIVITY(HP:0003210), NYSTAGMUS(HP:0000639), TREMOR(HP:0001337), LOW-SET EARS(HP:0000369), PIGMENTARY RETINOPATHY(HP:0000580), EXTRAPYRAMIDAL SIGNS(HP:0002071), CYSTATHIONINURIA(HP:0003153), DECREASED ADENOSYLCOBALAMIN (ADOCBL)(HP:0003145), FEEDING DIFFICULTIES(HP:0002022), LARGE, FLOPPY EARS(HP:0000386), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), FAILURE TO THRIVE(HP:0001508), HEMOLYTIC-UREMIC SYNDROME(HP:0005575), DECREASED SERUM METHIONINE(HP:0003658), METHYLMALONIC ACIDEMIA(HP:0002912), CEREBRAL CORTICAL ATROPHY(HP:0002120), METABOLIC ACIDOSIS(HP:0001942), HYDROCEPHALUS(HP:0000238), IMPAIRED VISION(HP:0000505), HOMOCYSTINEMIA(HP:0002160), MICROCEPHALY(HP:0000252), EARLY ONSET(HP:0003593), HOMOCYSTINURIA(HP:0002156), LATE ONSET(HP:0003584), DEMENTIA(HP:0000726)]
25978	CHMP2B	[DYSCALCULIA(HP:0002442), OROFACIAL DYSKINESIA(HP:0002310), ASTROCYTOSIS(HP:0002446), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), URINARY INCONTINENCE(HP:0000020), HYPERREFLEXIA(HP:0001347), RIGIDITY(HP:0002063), AGE OF ONSET(HP:0003674), MEMORY LOSS(HP:0002081), PERSONALITY CHANGES(HP:0000751), LOSS OF SPEECH(HP:0002371), APATHY(HP:0000741), GAIT DISTURBANCE(HP:0001288), CEREBRAL CORTICAL ATROPHY(HP:0002120), BABINSKI SIGN(HP:0003487), LACK OF INSIGHT(HP:0000757), MYOCLONUS(HP:0001336), MUTISM(HP:0002300), FRONTAL RELEASE REFLEXES(HP:0006911), INAPPROPRIATE BEHAVIOR(HP:0000719), AGGRESSIVE BEHAVIOR(HP:0000718), DYSTONIA(HP:0001332), RESTLESSNESS(HP:0000711), HYPERORALITY(HP:0000710), PROGRESSIVE COGNITIVE DECLINE(HP:0007298), STEREOTYPED, REPETITIVE BEHAVIOUR(HP:0000733), DISINHIBITION(HP:0000734), FRONTOTEMPORAL DEMENTIA(HP:0002145)]
26012	NELF	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ISOLATED HYPOGONADOTROPIC HYPOGONADISM(HP:0008224), PRIMARY AMENORRHEA(HP:0000786), DECREASED TESTICULAR SIZE(HP:0008734)]
26121	PRPF31	[RETINITIS PIGMENTOSA(HP:0000510), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
26128	KIAA1279	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BULBOUS NASAL TIP(HP:0000443), MENTAL RETARDATION(HP:0001249), PROMINENT NASAL BRIDGE(HP:0000426), SYNOPHRYS(HP:0000664), BROAD NASAL BRIDGE(HP:0000431), SHORT NECK(HP:0000470), SHORT PHILTRUM(HP:0000322), CONGENITAL MEGACOLON(HP:0002251), HIGH-ARCHED, DENSE EYEBROWS(HP:0007681), TAPERED FINGERS(HP:0001182), LOW-SET EARS(HP:0000369), TELECANTHUS(HP:0000506), BLUE SCLERAE(HP:0000592), RECURRENT CORNEAL EROSIONS(HP:0000495), MICROCEPHALY(HP:0000252), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), MEGALOCORNEA(HP:0000485), WIDE INTERMAMILLARY DISTANCE(HP:0006610)]
26154	ABCA12	[ECLABION(HP:0002264), ICHTHYOSIS(HP:0000955), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE ABDOMEN(HP:0001438), CONGENITAL ICHTHYOSIS(HP:0007484), RIGIDITY(HP:0002063), HYPOPLASTIC/SMALL FINGERS(HP:0009381), METABOLISM ABNORMALITY(HP:0001939), EXOPHTHALMOS(HP:0000645), PROPTOSIS(HP:0000520)]
26227	PHGDH	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MEGALOBLASTIC ANEMIA(HP:0001889), CONGENITAL CATARACT(HP:0000519), MENTAL RETARDATION(HP:0001249), THROMBOCYTOPENIA(HP:0001873), GROWTH RETARDATION(HP:0001510), HYPERTONIA(HP:0001276), EPILEPSY(HP:0001275), SPASTIC TETRAPLEGIA(HP:0002510), HYPOKINESIA(HP:0002375), DYSMYELINATION(HP:0003469), HYPSARRHYTHMIA(HP:0002521), NYSTAGMUS(HP:0000639), ADDUCTED THUMBS(HP:0001181), MICROCEPHALY(HP:0000252), DECREASED TESTICULAR SIZE(HP:0008734)]
26275	HIBCH	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TETRALOGY OF FALLOT(HP:0001636), FACIAL DYSMORPHISM(HP:0001999), AGENESIS OF CORPUS CALLOSUM(HP:0001274)]
26276	VPS33B	[JAUNDICE(HP:0000952), CHOLESTATIC LIVER DISEASE(HP:0002611), ARTHROGRYPOSIS MULTIPLEX CONGENITA(HP:0002804), RENAL FUNCTIONAL ABNORMALITY(HP:0000082), METABOLISM ABNORMALITY(HP:0001939), DEATH IN INFANCY(HP:0001522), NEPHROPATHY(HP:0000112)]
26277	TINF2	[APLASTIC ANEMIA(HP:0001915), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PULMONARY FIBROSIS(HP:0002206), ORAL LEUKOPLAKIA(HP:0002745), EXUDATIVE RETINOPATHY(HP:0007898), LEUKOCORIA(HP:0000555), ATAXIA(HP:0001251), FINE, RETICULATE SKIN PIGMENTATION(HP:0007617), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), CIRRHOSIS(HP:0001394), PANCYTOPENIA(HP:0001876), INTRAUTERINE GROWTH RETARDATION(HP:0001511), CARIOUS TEETH(HP:0000670), PREMATURE GRAYING OF HAIR(HP:0002216), HYPERTONIA(HP:0001276), SPARSE HAIR(HP:0008070), DERMAL ATROPHY(HP:0004334), SQUAMOUS CELL CARCINOMA OF THE SKIN(HP:0006739), HETEROGENEOUS(HP:0001425), RETICULAR HYPERPIGMENTATION(HP:0007588), ALOPECIA(HP:0001596), INTERSTITIAL PNEUMONITIS(HP:0006515), NYSTAGMUS(HP:0000639), CEREBRAL CALCIFICATION(HP:0002514), ISOLATED CASES(HP:0001420), NAIL DYSPLASIA(HP:0002164), HYPOPLASTIC MYELODYSPLASIA(HP:0004832), CEREBELLAR HYPOPLASIA(HP:0001321), EARLY TOOTH LOSS(HP:0001564), NAIL RIDGING(HP:0001807), NAIL PITTING(HP:0001803), MEGALOCORNEA(HP:0000485)]
26278	SACS	[RETINAL STRIATION(HP:0007654), PES CAVUS(HP:0001761), HAMMER TOES(HP:0001765), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), URINARY URGENCY(HP:0000012), DISTAL MUSCLE WEAKNESS(HP:0002460), HYPERREFLEXIA(HP:0001347), AMYOTROPHY, DISTAL, SEVERE(HP:0006786), HYPERMYELINATED RETINAL FIBERS(HP:0007922), ABSENT ANKLE REFLEXES(HP:0003438), DISTAL SENSATION LOSS(HP:0006843), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), SPASTICITY(HP:0001257), CORTICOSPINAL TRACT DYSFUNCTION(HP:0002493), DECREASED SENSORY NERVE CONDUCTION VELOCITIES (NCV)(HP:0003448), SWAN NECK-LIKE DEFORMITIES OF THE FINGERS(HP:0006150), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), DYSMETRIA(HP:0001310), GAIT ATAXIA, PROGRESSIVE(HP:0002142), ABNORMALITY OF OCULAR SMOOTH PURSUIT(HP:0000617), SPASTIC ATAXIA(HP:0002497), TRUNCAL ATAXIA, PROGRESSIVE(HP:0007221), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), LOSS OF PURKINJE CELLS IN THE CEREBELLAR VERMIS(HP:0007001), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), CEREBELLAR VERMIS ATROPHY(HP:0006855), DECREASED VIBRATORY SENSE IN THE LOWER LIMBS(HP:0002166), SCANNING SPEECH(HP:0002168), LOSS OF LARGE MYELINATED FIBERS(HP:0003387)]
26353	HSPB8	[PES CAVUS(HP:0001761), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MUSCLE WEAKNESS, DISTAL (LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS), DUE TO MOTOR NEURONOPATHY(HP:0002598), DISTAL AMYOTROPHY(HP:0003693), EMG SHOWS NEUROGENIC ABNORMALITIES(HP:0002178), EMG SHOWS EVIDENCE OF DENERVATION(HP:0007059), HYPOREFLEXIA OF LOWER LIMBS(HP:0002600), PARESIS OF EXTENSOR MUSCLES OF THE BIG TOE IS PRESENTING SYMPTOM(HP:0002601), NERVE BIOPSY SHOWS AXONAL NEUROPATHY(HP:0006842), DECREASED OR ABSENT SENSORY NERVE ACTION POTENTIALS(HP:0007078), MUSCLE WEAKNESS, LOWER LIMB, DISTAL(HP:0009053), HETEROGENEOUS(HP:0001425), PARALYSIS(HP:0003470), MEAN AGE OF ONSET 18 YEARS(HP:0003628), AREFLEXIA IN LOWER LIMBS(HP:0002522), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS(HP:0003483), SCOLIOSIS(HP:0002650), LOSS OF LARGE MYELINATED FIBERS(HP:0003387)]
26503	SLC17A5	[CARDIOMEGALY(HP:0001640), ATHETOSIS(HP:0002305), ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), COARSE FACIAL FEATURES(HP:0000280), EPICANTHUS(HP:0000286), APRAXIA(HP:0002186), HIGH-ARCHED PALATE(HP:0000156), OSTEOPENIA(HP:0000938), CEREBRAL ATROPHY(HP:0002059), HYDROPS FETALIS(HP:0001789), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), DYSARTHRIA(HP:0001260), SPASTICITY(HP:0001257), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), PREMATURE BIRTH(HP:0001622), ENLARGED LYSOSOMAL VACUOLES IN LYMPHOCYTES(HP:0008329), HYPOPIGMENTATION OF THE SKIN(HP:0001010), EARLY DEATH(HP:0001432), J-SHAPED SELLA TURCICA(HP:0002680), GINGIVAL HYPERTROPHY(HP:0000195), THICKENED CALVARIA(HP:0002684), NARES, ANTEVERTED(HP:0000463), SPEECH DELAY(HP:0002117), ABNORMALITY OF THE THORAX(HP:0000765), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), PTOSIS(HP:0000508), INABILITY TO WALK(HP:0002540), EXOTROPIA(HP:0000577), HYDROCEPHALUS(HP:0000238), NEPHROTIC SYNDROME(HP:0000100), FAIR HAIR(HP:0002294), ASCITES(HP:0001541), IRREGULAR METAPHYSES(HP:0003025), CONJUGATED HYPERBILIRUBINEMIA(HP:0002908)]
26504	CNNM4	[CONE-ROD DYSTROPHY(HP:0000548), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PHOTOPHOBIA(HP:0000613), NYSTAGMUS(HP:0000639), AMELOGENESIS IMPERFECTA(HP:0000705), CARIOUS TEETH(HP:0000670), PALE OPTIC DISKS(HP:0000543), NIGHT BLINDNESS(HP:0000662)]
26580	BSCL2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED SERUM LEPTIN(HP:0003292), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), NEARLY COMPLETE ABSENCE OF METABOLICALLY ACTIVE ADIPOSE TISSUE (SUBCUTANEOUS, INTRAABDOMINAL, INTRATHORACIC)(HP:0003809), HYPERREFLEXIA(HP:0001347), HEPATIC STEATOSIS(HP:0001397), CIRRHOSIS(HP:0001394), CLITOROMEGALY(HP:0000057), MANDIBULAR PROGNATHIA(HP:0000303), LABIAL HYPERTROPHY(HP:0000065), UPPER LIMB WEAKNESS AND ATROPHY PREDOMINATES(HP:0003471), GAIT DISTURBANCE(HP:0001288), DECREASED FERTILITY IN FEMALES(HP:0000868), LARGE FEET(HP:0001833), HEPATOMEGALY(HP:0002240), INSULIN-RESISTANT DIABETES MELLITUS AT PUBERTY(HP:0000877), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), PROMINENT UMBILICUS(HP:0001544), UMBILICAL HERNIA(HP:0001537), GENERALIZED MUSCULAR APPEARANCE FROM BIRTH(HP:0003716), HYPERINSULINEMIA(HP:0000842), INCREASED LINEAR GROWTH(HP:0003515), ACANTHOSIS NIGRICANS(HP:0000956), PES PLANUS(HP:0001763), SPASTIC GAIT(HP:0002064), PES CAVUS(HP:0001761), ACCELERATED SKELETAL MATURATION(HP:0005616), HAMMER TOES(HP:0001765), FIRST DORSAL INTEROSSEI MUSCLE WEAKNESS(HP:0003392), THENAR MUSCLE ATROPHY(HP:0003393), LIMB MUSCLE WEAKNESS(HP:0003690), DISTAL AMYOTROPHY(HP:0003693), DECREASED FERTILITY(HP:0000144), POLYCYSTIC OVARIES(HP:0000147), LOWER LIMB SPASTICITY(HP:0002061), SLOW PROGRESSION(HP:0003677), PANCREATITIS, ACUTE(HP:0001735), COLD-INDUCED HAND CRAMPS(HP:0003435), POLYPHAGIA(HP:0002591), ONSET AT BIRTH OR EARLY INFANCY(HP:0003666), FIRST DORSAL INTEROSSEI MUSCLE ATROPHY(HP:0003426), MENTAL RETARDATION, MILD(HP:0001256), THENAR MUSCLE WEAKNESS(HP:0003427), SPLENOMEGALY(HP:0001744), LYTIC CYSTIC LESIONS IN APPENDICULAR BONES (OCCURS AFTER PUBERTY)(HP:0002833), HETEROGENEOUS(HP:0001425), MEAN AGE OF ONSET 18 YEARS(HP:0003628), HIRSUTISM(HP:0001007), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), LARGE HANDS(HP:0001176), LIPODYSTROPHY(HP:0009125), DECREASED VIBRATORY SENSE IN THE LOWER LIMBS(HP:0002166), HYPERTRIGLYCERIDEMIA(HP:0002155)]
27019	DNAI1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEADACHE(HP:0002315), DEXTROCARDIA(HP:0001651), CHRONIC OTITIS MEDIA(HP:0000389), BRONCHIECTASIS(HP:0002110), ASPLENIA(HP:0001746), PNEUMONIA(HP:0002090), ABSENT FRONTAL SINUSES(HP:0002688), SITUS INVERSUS(HP:0001696), CHRONIC RHINITIS(HP:0002257), NASAL POLYPS(HP:0000462), ANOSMIA(HP:0000458), MALE INFERTILITY(HP:0003251), METABOLISM ABNORMALITY(HP:0001939), ABDOMINAL SITUS INVERSUS(HP:0003363), COMMUNICATING HYDROCEPHALUS(HP:0001334), SINUSITIS(HP:0000246), CONDUCTIVE DEAFNESS(HP:0000367), ABNORMALITY OF THE CORNEA(HP:0000481)]
27030	MLH3	[TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), UTERINE LEIOMYOSARCOMA(HP:0002891), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716)]
27031	NPHP3	[PATENT DUCTUS ARTERIOSUS(HP:0001643), BILIARY CIRRHOSIS(HP:0002613), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTERSTITIAL FIBROSIS(HP:0000129), AORTIC STENOSIS(HP:0001650), HEPATIC CYSTS(HP:0001407), PANCREATIC CYSTS(HP:0001737), CHOLESTASIS(HP:0001396), POTTER FACIES(HP:0002009), HEPATIC FIBROSIS(HP:0001395), CIRRHOSIS(HP:0001394), ASPLENIA(HP:0001746), INTESTINAL MALROTATION(HP:0002566), POLYSPLENIA(HP:0001748), URETERAL ATRESIA(HP:0005999), ATRIAL SEPTAL DEFECT(HP:0001631), PULMONARY HYPOPLASIA(HP:0002089), DANDY-WALKER MALFORMATION(HP:0001305), SITUS INVERSUS(HP:0001696), POLYDIPSIA(HP:0001959), BILE DUCT PROLIFERATION(HP:0001408), RENAL FAILURE(HP:0000083), TUBULAR ATROPHY(HP:0000092), HEPATOMEGALY(HP:0002240), POLYURIA(HP:0000103), RENAL DYSPLASIA(HP:0000110), CORTICOMEDULLARY CYSTS(HP:0000108), ABDOMINAL SITUS INVERSUS(HP:0003363), ENLARGED KIDNEYS(HP:0000105), POLYCYSTIC KIDNEY(HP:0000113), OLIGOHYDRAMNIOS(HP:0001562)]
27032	ATP2C1	[HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
27089	UQCRQ	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), DEAFNESS(HP:0000404), HIGHLY VARIABLE PHENOTYPE(HP:0003815), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), FEEDING DIFFICULTIES(HP:0002022), MITOCHONDRIAL ENCEPHALOPATHY(HP:0006789), EXERCISE INTOLERANCE(HP:0003546), CATARACT(HP:0000518), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), CHOLESTASIS(HP:0001396), EEG ABNORMALITIES(HP:0002353), FAILURE TO THRIVE(HP:0001508), DECREASED COMPLEX III ACTIVITY IN LIVER TISSUE(HP:0006558), CEREBELLAR ATROPHY(HP:0001272), MITOCHONDRIAL INHERITANCE(HP:0001427), HALLUCINATIONS(HP:0000738), ABNORMALITY OF THE URINARY TRACT(HP:0000079), RHABDOMYOLYSIS(HP:0003201), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), RAGGED-RED MUSCLE FIBERS(HP:0003200), DECREASED LIVER FUNCTION(HP:0001410), MICROVESICULAR STEATOSIS(HP:0001414), METABOLIC ACIDOSIS(HP:0001942), EMOTIONAL LABILITY(HP:0000712), HYPOGLYCEMIA(HP:0001943), RETINITIS PIGMENTOSA(HP:0000510), LACTIC ACIDEMIA(HP:0003128), DEPRESSION(HP:0000716), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), INCREASED SERUM LACTATE(HP:0002151), COAGULOPATHY(HP:0001925), AMINOACIDURIA(HP:0002903), MUSCLE WEAKNESS(HP:0001324)]
27130	INVS	[HYPERKALEMIC METABOLIC ACIDOSIS(HP:0005976), HYPERTENSION(HP:0000822), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CHRONIC TUBULOINTERSTITIAL NEPHRITIS(HP:0004743), ABSENCE OF CORTICOMEDULLARY DIFFERENTIATION(HP:0005564), INCREASED CREATININE(HP:0003259), ENLARGED, HYPERECHOGENIC KIDNEYS(HP:0004719), RENAL FAILURE BY AGE 3(HP:0005570), OLIGOHYDRAMNIOS(HP:0001562), PULMONARY HYPOPLASIA(HP:0002089), RENAL CORTICAL MICROCYSTS(HP:0004734), RESPIRATORY INSUFFICIENCY(HP:0002093), HYPERKALEMIA(HP:0002153)]
27184	DISC2	[DELUSIONS(HP:0000746), SOCIAL AND OCCUPATIONAL DETERIORATION(HP:0007086), METABOLISM ABNORMALITY(HP:0001939), MULTIPLE LOCI(HP:0001461), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HALLUCINATIONS(HP:0000738), EEG ABNORMALITIES(HP:0002353)]
27232	GNMT	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERMETHIONINEMIA(HP:0003235), ELEVATED TRANSAMINASES(HP:0002910), HEPATOMEGALY(HP:0002240)]
27235	COQ2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), HIGHLY VARIABLE PHENOTYPE(HP:0003815), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), VISUAL LOSS(HP:0000572), CEREBELLAR ATAXIA(HP:0001253), SEIZURES(HP:0001250), DYSARTHRIA(HP:0001260), MUSCLE WEAKNESS, PROGRESSIVE(HP:0003323), MOTOR RETARDATION(HP:0001270), MEMORY IMPAIRMENT(HP:0002354), MYOGLOBINURIA, EPISODIC(HP:0008313), CEREBELLAR ATROPHY(HP:0001272), ONSET IN CHILDHOOD(HP:0003578), HYPOKINESIA(HP:0002375), MYOGLOBINURIA(HP:0002913), ENCEPHALOPATHY(HP:0001298), RAGGED-RED MUSCLE FIBERS(HP:0003200), VARIABLE AGE AT ONSET(HP:0003618), NYSTAGMUS(HP:0000639), RETINITIS PIGMENTOSA(HP:0000510), NEPHROTIC SYNDROME(HP:0000100), LACTIC ACIDEMIA(HP:0003128), GLOMERULOSCLEROSIS(HP:0000096), LEARNING DISABILITY(HP:0001328), POSTURAL INSTABILITY(HP:0002172), SCANNING SPEECH(HP:0002168), INCREASED SERUM CREATINE KINASE(HP:0002147)]
27241	BBS9	[HYPERTENSION(HP:0000822), DIABETES MELLITUS(HP:0000819), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), CATARACT(HP:0000518), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), ABNORMALITY OF THE KIDNEYS(HP:0000077), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), LEARNING DISABILITY(HP:0001328), BILIARY TRACT ABNORMALITY(HP:0001080), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), HYPOGONADISM(HP:0000135), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), OBESITY(HP:0001513), CLINODACTYLY OF HANDS(HP:0001157), POOR COORDINATION(HP:0002370), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), HIRSUTISM(HP:0001007), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
27249	MMADHC	[DECREASED METHIONINE SYNTHASE (MTR, 156570) ACTIVITY(HP:0003524), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED ADENOSYLCOBALAMIN (ADOCBL)(HP:0003145), MEGALOBLASTIC ANEMIA(HP:0001889), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), DECREASED SERUM METHIONINE(HP:0003658), ONSET IN INFANCY(HP:0003576), METHYLMALONIC ACIDEMIA(HP:0002912), DECREASED METHYLCOBALAMIN (MECBL)(HP:0003223), SPASTIC ATAXIA(HP:0002497), DECREASED METHYLMALONYL-COA MUTASE ACTIVITY(HP:0003210), CEREBRAL CORTICAL ATROPHY(HP:0002120), NYSTAGMUS(HP:0000639), HOMOCYSTINEMIA(HP:0002160), DYSTONIA(HP:0001332), HOMOCYSTINURIA(HP:0002156), ERYTHROCYTE MACROCYTOSIS(HP:0005518)]
28956	ROBLD3	[HYPOKINESIA(HP:0002375), DECREASED IGM(HP:0002850), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPIGMENTATION OF THE SKIN(HP:0001010), COARSE FACIAL FEATURES(HP:0000280), DECREASED BODY HEIGHT(HP:0004322), IMMUNODEFICIENCY(HP:0002721), RECURRENT INFECTIONS(HP:0002719), RESPIRATORY ABNORMALITY(HP:0002086)]
28962	OSTM1	[HYDROCEPHALUS(HP:0000238), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
28976	ACAD9	[DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), MICROVESICULAR STEATOSIS(HP:0001414), CEREBRAL EDEMA(HP:0002181), DICARBOXYLIC ACIDURIA(HP:0003215), HYPOGLYCEMIA(HP:0001943), HEPATIC FAILURE(HP:0001399), THROMBOCYTOPENIA(HP:0001873), MUSCLE WEAKNESS(HP:0001324), ELEVATED TRANSAMINASES(HP:0002910)]
29078	NDUFAF4	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BLINDNESS(HP:0000618), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), MUSCLE WEAKNESS(HP:0001324), HEARING LOSS, SENSORINEURAL(HP:0000407), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LEUKODYSTROPHY(HP:0002415), STRABISMUS(HP:0000486)]
29851	ICOS	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MARKEDLY REDUCED IGG LEVELS(HP:0003294), DECREASED IGM LEVEL(HP:0003147), LYMPHADENOPATHY(HP:0002716), RECURRENT BACTERIAL INFECTIONS(HP:0002718), LOW PLASMA CELLS NUMBER IN BONE MARROW(HP:0002956), DIARRHEA(HP:0002014), BRONCHIECTASIS(HP:0002110), PNEUMONIA(HP:0002090), VARIABLE DEGREE OF T CELL DYSFUNCTION(HP:0002844), MARKEDLY REDUCED IGA LEVELS(HP:0003460), CONJUNCTIVITIS(HP:0000509), ACUTE OTITIS MEDIA(HP:0000371), ACUTE SINUSITIS(HP:0000255)]
29914	UBIAD1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CRYSTALLINE CORNEAL DYSTROPHY(HP:0007760)]
29929	ALG6	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), ABNORMAL ISOELECTRIC FOCUSING OF SERUM TRANSFERRIN (TYPE 1 PATTERN)(HP:0003642), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANTITHROMBIN III DEFICIENCY(HP:0001976), ELEVATED SERUM TRANSAMINASES DURING INFECTIONS(HP:0008150), AREFLEXIA(HP:0001284), PSYCHOMOTOR RETARDATION(HP:0001255), ATAXIA(HP:0001251), SEIZURES(HP:0001250), STRABISMUS(HP:0000486), FACTOR XI DEFICIENCY(HP:0001929)]
29954	POMT2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL MALFORMATION(HP:0007901), MENTAL RETARDATION, PROFOUND(HP:0002187), EXCESSIVE DAYTIME SLEEPINESS(HP:0002189), MICROPHTHALMOS(HP:0000568), CATARACT(HP:0000518), DETACHED RETINA(HP:0000541), DANDY-WALKER MALFORMATION(HP:0001305), OPTIC NERVE HYPOPLASIA(HP:0000609), CONGENITAL CONTRACTURES(HP:0002803), ABNORMALITY OF THE GENITAL TRACT(HP:0000078), PACHYGYRIA(HP:0001302), RENAL DYSPLASIA(HP:0000110), CONGENITAL MUSCULAR DYSTROPHY(HP:0003741), COLOBOMA(HP:0000589), THICK CEREBRAL CORTEX(HP:0006891), MENINGOENCEPHALOCELE(HP:0006888), EXTERNAL AUDITORY CANAL ATRESIA(HP:0000413), HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079), MICROTIA(HP:0000393), ANAL ATRESIA(HP:0002023), TYPE II LISSENCEPHALY(HP:0007260), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), OCCIPITAL ENCEPHALOCELE(HP:0002085), AGENESIS OF CORPUS CALLOSUM(HP:0001274), PETERS ANOMALY(HP:0000659), CLEFT LIP(HP:0000204), ANTERIOR CHAMBER MALFORMATION(HP:0007699), VENTRICULOMEGALY(HP:0002119), INCREASED CREATINE KINASE(HP:0003078), HYDROCEPHALUS(HP:0000238), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), RETINAL DYSPLASIA(HP:0007973), GLAUCOMA(HP:0000501), MICROCEPHALY(HP:0000252), MEGALOCORNEA(HP:0000485)]
29958	DMGDH	[MUSCLE FATIGUE(HP:0003750), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCREASED CREATINE KINASE(HP:0003078)]
29968	PSAT1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTRACTABLE SEIZURES(HP:0001303), MICROCEPHALY, ACQUIRED(HP:0000259), FEEDING DIFFICULTIES(HP:0002022), PSYCHOMOTOR RETARDATION(HP:0001255), METABOLISM ABNORMALITY(HP:0001939), CEREBELLAR VERMIS HYPOPLASIA(HP:0001320), HYPERTONIA(HP:0001276), ONSET IN INFANCY(HP:0003576)]
30008	EFEMP2	[RECURRENT RESPIRATORY INFECTIONS(HP:0002205), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BLADDER DIVERTICULA(HP:0000015), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), INGUINAL HERNIA(HP:0000023), ABNORMALITY OF THE FACE(HP:0000271), EMPHYSEMA(HP:0002097), SUPRAVALVULAR AORTIC STENOSIS(HP:0004381), JOINT LAXITY(HP:0001388), DIAPHRAGMATIC HERNIA(HP:0000776), LOOSE, REDUNDANT SKIN(HP:0001582), VASCULAR TORTUOSITY(HP:0004948), PECTUS EXCAVATUM(HP:0000767), UMBILICAL HERNIA(HP:0001537), OLIGOHYDRAMNIOS(HP:0001562), ASCENDING AORTIC ANEURYSM(HP:0002631)]
30009	TBX21	[ASTHMA(HP:0002099), IMMUNOLOGICAL ABNORMALITY(HP:0002715), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NASAL POLYPS(HP:0000462)]
30062	RAX	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SCLEROCORNEA(HP:0000647), ANKYLOBLEPHARON(HP:0009755), ANOPHTHALMIA, CLINICAL(HP:0001485), MICROPHTHALMOS(HP:0000568)]
30813	VSX1	[WIDELY SPACED TEETH(HP:0000687), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), GLAUCOMA(HP:0000501), KERATOCONUS(HP:0000563), POLYMORPHOUS POSTERIOR CORNEAL DYSTROPHY(HP:0007915), OBESITY(HP:0001513), ASTIGMATISM(HP:0000483)]
50485	SMARCAL1	[HYPERTENSION(HP:0000822), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), ANEMIA(HP:0001903), LYMPHOPENIA(HP:0001888), RECURRENT INFECTIONS(HP:0002719), CORNEAL CLOUDING(HP:0000515), NEUTROPENIA(HP:0001875), THROMBOCYTOPENIA(HP:0001873), OVOID VERTEBRAL BODIES(HP:0003300), COARSE HAIR(HP:0002208), HIGH PITCHED VOICE(HP:0001620), FINE HAIR(HP:0002213), HYPERPIGMENTED MACULES(HP:0001034), RENAL FAILURE(HP:0000083), PROTEINURIA(HP:0000093), WADDLING GAIT(HP:0002515), NEPHROTIC SYNDROME(HP:0000100), FOCAL SEGMENTAL GLOMERULOSCLEROSIS(HP:0000097), SHORT STATURE, DISPROPORTIONATE(HP:0003498), TRANSIENT ISCHEMIC ATTACK(HP:0002326), LATERALLY DISPLACED FEMORAL HEADS(HP:0006453), OSTEOPENIA(HP:0000938), MICRODONTIA(HP:0000691), SHORT TRUNK(HP:0001524), PLATYSPONDYLY(HP:0000926), BULBOUS NASAL TIP(HP:0000443), MOTOR RETARDATION(HP:0001270), FLATTENED NASAL BRIDGE(HP:0000425), SHALLOW ACETABULAR FOSSAE(HP:0003182), INTRAUTERINE GROWTH RETARDATION(HP:0001511), ABNORMALITY OF T-CELLS(HP:0002843), SHORT NECK(HP:0000470), SMALL CAPITAL FEMORAL EPIPHYSES(HP:0003090), INCREASED SERUM THYROID-STIMULATING HORMONE (TSH)(HP:0002925), LUMBAR HYPERLORDOSIS(HP:0002938), THORACIC KYPHOSIS(HP:0002942), ATYPICAL SCARRING(HP:0000987), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), SPONDYLOEPIPHYSEAL DYSPLASIA(HP:0002655), EARLY ONSET(HP:0003593), ARTERIOSCLEROSIS(HP:0002634), CEREBRAL ISCHEMIA(HP:0002637), ASTIGMATISM(HP:0000483)]
50511	SYCP3	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AZOOSPERMIA(HP:0000027)]
50514	DEC1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
50674	NEUROG3	[DIABETES MELLITUS(HP:0000819), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ONSET IN FIRST WEEKS OF LIFE(HP:0003622), LOW WEIGHT(HP:0001823), HYPERCHLOREMIC METABOLIC ACIDOSIS(HP:0004918), DIARRHEA(HP:0002014), DEHYDRATION(HP:0001944), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508)]
50814	NSDHL	[STILLBORN OR NEONATAL DEATH(HP:0003826), CONGENITAL HIP DISLOCATION(HP:0001374), JOINT CONTRACTURES(HP:0001372), APLASIA/HYPOPLASIA INVOLVING THE CENTRAL NERVOUS SYSTEM(HP:0002977), HYPOPLASTIC PELVIC BONES(HP:0008816), IPSILATERAL MANDIBULAR HYPOPLASIA(HP:0005470), HYPOPLASTIC THYROID(HP:0005990), HYPOPLASTIC SCAPULAE(HP:0000882), PARAKERATOSIS(HP:0001036), ELEVATED 8-DEHYDROCHOLESTEROL(HP:0003462), ELEVATED 8(9)-CHOLESTENOL(HP:0003465), ABNORMALITY OF THE NAILS(HP:0001597), ALOPECIA(HP:0001596), STIPPLING OF THE EPIPHYSES(HP:0010655), ADRENAL HYPOPLASIA(HP:0000835), HEARING LOSS(HP:0000365), APLASIA/HYPOPLASIA OF THE EXTREMITIES(HP:0009815), RENAL AGENESIS/HYPOPLASIA(HP:0004744), VERTEBRAL HYPOPLASIA(HP:0008417), CARDIAC MALFORMATION(HP:0002564), HYPOPLASTIC RIBS(HP:0000908), PULMONARY HYPOPLASIA(HP:0002089), HYPOPLASTIC CLAVICLES(HP:0000898), HETEROGENEOUS(HP:0001425), DECREASED BODY HEIGHT(HP:0004322), X-LINKED DOMINANT INHERITANCE(HP:0001423), SCOLIOSIS(HP:0002650), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA(HP:0007431), HYPERKERATOSIS(HP:0000962)]
50846	DHH	[46,XY GONADAL DYSGENESIS(HP:0008668), HETEROGENEOUS(HP:0001425), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GONADOBLASTOMA RISK(HP:0006745), HYPOPLASTIC UTERUS(HP:0000013), ABNORMALITY OF THE EPIDIDYMIS(HP:0009714), RUDIMENTARY FALLOPIAN TUBES(HP:0008697), STREAK OVARY(HP:0010464)]
50940	PDE11A	[HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), OSTEOPOROSIS(HP:0000939), OSTEOPENIA(HP:0000938), ROUND FACE(HP:0000311), ONSET IN CHILDHOOD OR EARLY ADULTHOOD(HP:0003663), PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE(HP:0001580), KYPHOSIS(HP:0002808), HETEROGENEOUS(HP:0001425), ACTH-INDEPENDENT HYPERCORTISOLEMIA(HP:0001579), ANXIETY(HP:0000739), DECREASED SERUM ACTH(HP:0002920), MOOD CHANGES(HP:0001575), PARADOXICAL INCREASED CORTISOL SECRETION ON DEXAMETHASONE SUPPRESSION TEST(HP:0003466), TRUNCAL OBESITY(HP:0001956), AGITATION(HP:0000713), CUSHING SYNDROME(HP:0000850), COGNITIVE DECLINE(HP:0002303), STRIAE DISTENSAE(HP:0001065), DEPRESSION(HP:0000716), ECCHYMOSES(HP:0000978), PSYCHOSIS(HP:0000709), INCREASED SERUM CORTISOL(HP:0003118), THIN SKIN(HP:0000963)]
50943	FOXP3	[HYPOTHYROIDISM(HP:0000821), DIABETES MELLITUS(HP:0000819), ILEUS(HP:0002595), X-LINKED RECESSIVE INHERITANCE(HP:0001419), AUTOIMMUNE HEMOLYTIC ANEMIA(HP:0001890), IMMUNE DYSREGULATION(HP:0002958), THROMBOCYTOPENIA(HP:0001873), ENTEROPATHY(HP:0002628), ECZEMA(HP:0000964)]
50945	TBX22	[ABNORMALITY OF THE MOUTH(HP:0000153), X-LINKED INHERITANCE(HP:0001417)]
50964	SOST	[MALAR HYPOPLASIA(HP:0000272), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEADACHE(HP:0002315), FACIAL PALSY, SECONDARY TO CRANIAL HYPEROSTOSIS(HP:0007285), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), DEAFNESS(HP:0000404), ESOTROPIA(HP:0000565), 2-3 FINGER SYNDACTYLY(HP:0001233), SCLEROTIC SCAPULAE(HP:0001474), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), THICKENED CORTEX OF LONG BONES(HP:0000935), VISUAL LOSS(HP:0000572), DENTAL MALOCCLUSION(HP:0000689), DEVIATED FINGERS(HP:0004097), CONSTRICTED VISUAL FIELDS(HP:0001133), FRONTAL BOSSING(HP:0002007), BROAD CLAVICLES(HP:0000916), CORTICALLY DENSE LONG TUBULAR BONES(HP:0006415), PROPTOSIS(HP:0000520), HYPERTELORISM(HP:0000316), CRANIAL NERVE PARALYSIS(HP:0006824), OSTEOSCLEROSIS(HP:0010738), MANDIBULAR PROGNATHIA(HP:0000303), SUDDEN DEATH(HP:0001699), BROAD RIBS(HP:0000885), COGNITIVE IMPAIRMENT(HP:0002128), BROAD, FLAT NASAL ROOT(HP:0005284), FACIAL MUSCLE WEAKNESS(HP:0010628), OPTIC ATROPHY FROM CRANIAL NERVE COMPRESSION(HP:0007958), INCREASED INTRACRANIAL PRESSURE(HP:0002516), SCLEROTIC VERTEBRAL ENDPLATES(HP:0004576), NYSTAGMUS(HP:0000639), OVERGROWTH(HP:0001548), NAIL DYSPLASIA(HP:0002164), ABNORMALITY OF THE PELVIS(HP:0002644)]
51021	MRPS16	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FEEDING DIFFICULTIES(HP:0002022), DECREASED SPONTANEOUS MOVEMENTS(HP:0002603), LETHARGY(HP:0001254), REDUNDANT SKIN OVER THE NECK(HP:0005993), LOW BIRTH WEIGHT(HP:0001518), AGENESIS OF CORPUS CALLOSUM(HP:0001274), FACIAL DYSMORPHISM(HP:0001999), ONSET AT BIRTH(HP:0003577), MITOCHONDRIAL INHERITANCE(HP:0001427), HYPOKINESIA(HP:0002375), HETEROGENEOUS(HP:0001425), BRACHYDACTYLY(HP:0001156), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), VENTRICULOMEGALY(HP:0002119), LACTIC ACIDEMIA(HP:0003128), HYDROPS(HP:0000990), LOW-SET EARS(HP:0000369), INCREASED SERUM LACTATE(HP:0002151), EDEMA(HP:0000969), NEONATAL HYPOTONIA(HP:0001319)]
51062	ATL1	[SPASTIC GAIT(HP:0002064), HIGHLY VARIABLE SEVERITY(HP:0003825), ABNORMALITY OF THE FEET(HP:0001760), REDUCED PENETRANCE(HP:0003830), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DEGENERATION OF THE LATERAL CORTICOSPINAL TRACTS(HP:0002314), URINARY URGENCY(HP:0000012), URINARY INCONTINENCE(HP:0000020), HYPERREFLEXIA(HP:0001347), LOWER LIMB SPASTICITY(HP:0002061), MOTOR RETARDATION(HP:0001270), SPHINCTER DISTURBANCES (BLADDER)(HP:0002839), LOWER LIMB ATROPHY(HP:0006975), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), SCOLIOSIS(HP:0002650), INSIDIOUS ONSET(HP:0003587)]
51099	ABHD5	[SMALL EARS(HP:0000409), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), MYOPATHY(HP:0003198), ATAXIA(HP:0001251), MENTAL RETARDATION(HP:0001249), HEPATIC STEATOSIS(HP:0001397), SUBCAPSULAR CATARACTS(HP:0000523), HEMATOLOGICAL ABNORMALITY(HP:0001871), ECTROPION(HP:0000656), ECLABION(HP:0002264), COLLODION BABY(HP:0001021), HAIR ABNORMALITY(HP:0001595), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), CONGENITAL NONBULLOUS ICHTHYOSIFORM ERYTHRODERMA(HP:0007479), MUSCLE WEAKNESS(HP:0001324), STRABISMUS(HP:0000486)]
51119	SBDS	[DELAYED SKELETAL MATURATION(HP:0002750), NARROW SACROILIAC NOTCH(HP:0008803), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PANCYTOPENIA(HP:0001876), NARROW CHEST(HP:0000774), OVOID VERTEBRAL BODIES(HP:0003300), COXA VARA(HP:0002812), METAPHYSEAL CHONDRODYSPLASIA OF LONG BONES(HP:0006377), HEPATOMEGALY(HP:0002240), IRREGULAR OSSIFICATION AT ANTERIOR RIB ENDS(HP:0006598), LEARNING DISABILITY(HP:0001328), NEPHROCALCINOSIS(HP:0000121), MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS TYPE II(HP:0004746), MYELODYSPLASIA(HP:0002863), PROXIMAL FEMORAL EPIPHYSIOLYSIS(HP:0006461), RESPIRATORY DISTRESS(HP:0002098), ENLARGEMENT OF THE COSTOCHONDRAL JUNCTION(HP:0000920), DEVELOPMENTAL RETARDATION(HP:0001263), EXOCRINE PANCREATIC INSUFFICIENCY(HP:0001738), MENTAL RETARDATION, MILD(HP:0001256), FAILURE TO THRIVE(HP:0001508), LOW BIRTH WEIGHT(HP:0001518), STEATORRHEA(HP:0002570), ACUTE MYELOID LEUKEMIA(HP:0004808), MYOCARDIAL NECROSIS(HP:0001700), DECREASED BODY HEIGHT(HP:0004322), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), PERSISTENT OR INTERMITTENT NEUTROPENIA(HP:0005515)]
51128	SAR1B	[ABNORMALITY OF THE EYES(HP:0000478), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOALBUMINEMIA(HP:0003073), MALNUTRITION(HP:0004395), MENTAL RETARDATION(HP:0001249), GROWTH RETARDATION(HP:0001510), HEMATOLOGICAL ABNORMALITY(HP:0001871), IMPAIRED VIBRATORY SENSE(HP:0002495), WEAK OR ABSENT DEEP TENDON REFLEXES(HP:0001316), STEATORRHEA(HP:0002570)]
51168	MYO15A	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PROFOUND, CONGENITAL, NEUROSENSORY, NONSYNDROMAL DEAFNESS(HP:0008571), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
51181	DCXR	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), URINARY LABORATORY ABNORMALITY(HP:0003110)]
51185	CRBN	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MENTAL RETARDATION, MILD(HP:0001256), MILDLY DELAYED DEVELOPMENTAL MILESTONES(HP:0007174)]
51196	PLCE1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PROTEINURIA(HP:0000093), HYPOALBUMINEMIA(HP:0003073), DIFFUSE MESANGIAL SCLEROSIS(HP:0001967), FOCAL SEGMENTAL GLOMERULOSCLEROSIS(HP:0000097), NEPHROTIC SYNDROME, PROGRESSING TO ENDSTAGE KIDNEY DISEASE(HP:0004718), EDEMA(HP:0000969), ONSET IN INFANCY OR CHILDHOOD(HP:0003583)]
51218	GLRX5	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANEMIA(HP:0001903)]
51251	NT5C3	[HEMOGLOBINURIA(HP:0003641), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEMOLYTIC ANEMIA(HP:0001878)]
51259	TMEM216	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), DYSGENESIS OR AGENESIS OF THE CEREBELLAR VERMIS(HP:0002195), CHORIORETINAL COLOBOMA(HP:0000567), MACROCEPHALY(HP:0000256), VARIABLE PHENOTYPE(HP:0003813), MICROPHTHALMOS(HP:0000568), HYPERTELORISM(HP:0000316), HYPOPLASTIC GENITALIA(HP:0000050), MALFORMATION OF BRAINSTEM STRUCTURES(HP:0002508), ABNORMALITY OF OCULAR SMOOTH PURSUIT(HP:0000617), IMPAIRED RENAL FUNCTION(HP:0000087), ABNORMAL, JERKY EYE MOVEMENTS(HP:0000628), NYSTAGMUS(HP:0000639), NEONATAL BREATHING DYSREGULATION(HP:0002790), NEPHRONOPHTHISIS(HP:0000090), LOW-SET EARS(HP:0000369), OPTIC NERVE COLOBOMA(HP:0000588), RENAL CYSTS(HP:0000107), IMPAIRED SACCADES(HP:0000604), ABNORMALITY OF THE FEET(HP:0001760), CENTRAL APNEA(HP:0002871), HIGH-ARCHED PALATE(HP:0000156), TACHYPNEA, EPISODIC(HP:0002876), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), FLATTENED NASAL BRIDGE(HP:0000425), ENCEPHALOCELE(HP:0002084), HYPOPLASIA OF THE BRAINSTEM(HP:0002365), OCULOMOTOR APRAXIA(HP:0000657), ABNORMALITY OF THE CORPUS CALLOSUM(HP:0001273), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), THICK AND ELONGATED SUPERIOR CEREBELLAR PEDUNCLES(HP:0002404), HYDROCEPHALUS(HP:0000238), IMPAIRED VISION(HP:0000505), DEEP POSTERIOR INTERPEDUNCULAR FOSSA(HP:0002420), 'MOLAR TOOTH SIGN' ON MRI(HP:0002419)]
51324	SPG21	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SPASTIC PARAPARESIS(HP:0002313), ONSET IN SECOND AND THIRD DECADES(HP:0003602)]
51360	MBTPS2	[RECURRENT RESPIRATORY INFECTIONS(HP:0002205), ICHTHYOSIS(HP:0000955), INGUINAL HERNIA(HP:0000023), ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), PHOTOPHOBIA(HP:0000613), ABNORMALITY OF THE KIDNEYS(HP:0000077), DECREASED BODY HEIGHT(HP:0004322), HAIR ABNORMALITY(HP:0001595), CONGENITAL ICHTHYOSIS(HP:0007484), CONGENITAL MEGACOLON(HP:0002251), X-LINKED RECESSIVE INHERITANCE(HP:0001419), ENAMEL DYSPLASIA(HP:0001565), HYPOHIDROSIS(HP:0000966)]
51371	POMP	[HONEYCOMB PALMOPLANTAR KERATODERMA(HP:0007465), AMNIOTIC BANDS(HP:0009775), PARAKERATOSIS(HP:0001036), ICHTHYOSIS, CONGENITAL, NONBLISTERING(HP:0007619), ICHTHYOSIS(HP:0000955), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LINEAR ARRAYS OF MACULAR HYPERKERATOSES IN FLEXURAL AREAS(HP:0007490), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), NAIL DYSTROPHY WITH OVERCURVATURE(HP:0008413), CONGENITAL ICHTHYOSIS(HP:0007484)]
51422	PRKAG2	[VENTRICULAR PREEXCITATION(HP:0006676), SHORT PR INTERVAL AND PROLONGED QRS, WITH SLURRED-UP STROKE OF THE R WAVE ON EKG(HP:0006677), CARDIOMEGALY(HP:0001640), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HIGHER INCIDENCE OF MULTIPLE ACCESSORY PATHWAYS(HP:0006684), CONGESTIVE HEART FAILURE(HP:0001635), CARDIOMYOPATHY(HP:0001638), WOLF-PARKINSON-WHITE SYNDROME(HP:0001716), PAROXYSMAL SUPRAVENTRICULAR TACHYCARDIA(HP:0004763), PAROXYSMAL ATRIAL FIBRILLATION(HP:0004757), PALPITATIONS(HP:0001962), ASYMMETRIC SEPTAL HYPERTROPHY(HP:0001670), CYANOSIS(HP:0000961), NEONATAL HYPOGLYCEMIA(HP:0001998)]
51592	TRIM33	[AGE OF ONSET(HP:0003674), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PAPILLARY THYROID CARCINOMA(HP:0002895), SPORADIC(HP:0003745)]
51684	SUFU	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MEDULLOBLASTOMA(HP:0002885)]
51715	RAB23	[PULMONIC STENOSIS(HP:0001642), PATENT DUCTUS ARTERIOSUS(HP:0001643), MALAR HYPOPLASIA(HP:0000272), DELAYED LOSS OF DECIDUOUS TEETH(HP:0006335), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), TETRALOGY OF FALLOT(HP:0001636), PRECOCIOUS PUBERTY(HP:0000826), CRYPTORCHIDISM(HP:0000028), CORNEAL CLOUDING(HP:0000515), VENTRICULAR SEPTAL DEFECT(HP:0001629), SPINA BIFIDA OCCULTA(HP:0003298), ATRIAL SEPTAL DEFECT(HP:0001631), LATERAL DISPLACEMENT OF PATELLAE(HP:0006397), PREAURICULAR SINUS(HP:0004467), HYDROURETER(HP:0000072), PREAXIAL POLYDACTYLY (FEET)(HP:0001841), METATARSUS VARUS(HP:0001840), LOW-SET EARS(HP:0000369), ABNORMAL FORM OF EARS(HP:0000377), UMBILICAL HERNIA(HP:0001537), OMPHALOCELE(HP:0001539), ABSENCE OF PERMANENT TEETH(HP:0006349), HYDRONEPHROSIS(HP:0000126), CAMPTODACTYLY (HANDS)(HP:0010563), TOE SYNDACTYLY(HP:0001770), HEARING LOSS, SENSORINEURAL(HP:0000407), GENU VALGUM(HP:0002857), HEARING LOSS, CONDUCTIVE(HP:0000405), HIGH-ARCHED PALATE(HP:0000156), OPTIC ATROPHY(HP:0000648), FLATTENED NASAL BRIDGE(HP:0000425), POLYSPLENIA(HP:0001748), OBESITY(HP:0001513), COXA VALGA(HP:0002673), CLINODACTYLY OF HANDS(HP:0001157), BRACHYDACTYLY(HP:0001156), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), DECREASED BODY HEIGHT(HP:0004322), ABNORMALITY OF THE NECK(HP:0000464), CRANIOSYNOSTOSIS (CORONAL, SAGITTAL, LAMBDOID SUTURES)(HP:0002685), PREAXIAL POLYDACTYLY (HANDS)(HP:0001177), TRANSPOSITION OF THE GREAT VESSELS(HP:0001669), SCOLIOSIS(HP:0002650), BRACHYCEPHALY(HP:0000248), MICROCORNEA(HP:0000482)]
51733	UPB1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPSARRHYTHMIA(HP:0002521), PSYCHOMOTOR RETARDATION(HP:0001255), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), SEIZURES(HP:0001250), METABOLISM ABNORMALITY(HP:0001939), SCOLIOSIS(HP:0002650), DYSTONIA(HP:0001332), MRI SHOWS DELAYED MYELINATION(HP:0006974), NEONATAL HYPOTONIA(HP:0001319)]
51741	WWOX	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), NEOPLASIA(HP:0002664)]
53630	BCMO1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE SKIN(HP:0000951)]
54209	TREM2	[ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), THIN CORPUS CALLOSUM(HP:0002319), APRAXIA(HP:0002186), URINARY INCONTINENCE(HP:0000020), CEREBRAL ATROPHY(HP:0002059), NEUROPATHOLOGIC EXAMINATION SHOWS SEVERE DEMYELINATION(HP:0006939), CAUDATE ATROPHY(HP:0002340), PRIMITIVE REFLEXES (PALMOMENTAL, SNOUT, GLABELLAR)(HP:0002476), SEIZURES(HP:0001250), SPASTICITY(HP:0001257), EEG ABNORMALITIES(HP:0002353), LEUKOENCEPHALOPATHY(HP:0002352), AXONAL LOSS(HP:0003447), ABNORMALITY OF THE HAND(HP:0001155), BASAL GANGLIA CALCIFICATION(HP:0002135), PERSONALITY CHANGES(HP:0000751), GAIT DISTURBANCE(HP:0001288), UPPER MOTOR NEURON ABNORMALITY(HP:0002127), BABINSKI SIGN(HP:0003487), LACK OF INSIGHT(HP:0000757), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), MYOCLONUS(HP:0001336), HYDROPS(HP:0000990), DEMENTIA, PRESENILE, PROGRESSIVE, BEGINNING AROUND AGE 30 YEARS(HP:0007150), INAPPROPRIATE BEHAVIOR(HP:0000719), AGGRESSIVE BEHAVIOR(HP:0000718), GLIOSIS(HP:0002171), EDEMA(HP:0000969), DISINHIBITION(HP:0000734), PATHOLOGIC FRACTURE(HP:0002756), FRONTAL LOBE DEMENTIA(HP:0000727)]
54332	GDAP1	[TALIPES EQUINOVARUS(HP:0001762), KYPHOSCOLIOSIS(HP:0002751), NEUROPATHY(HP:0003407), PES CAVUS(HP:0001761), SEVERE DISTAL SENSORY LOSS(HP:0007292), INABILITY TO WALK BY CHILDHOOD/ADOLESCENCE(HP:0006915), CONTRACTURES(HP:0001371), BASAL LAMINA 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003400), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LIMB MUSCLE WEAKNESS(HP:0003690), DISTAL AMYOTROPHY(HP:0003693), OCCASIONAL EARLY 'ONION' BULB FORMATIONS(HP:0007084), NORMAL OR MILDLY DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003437), RAPIDLY PROGRESSIVE(HP:0003678), HYPOMYELINATION(HP:0003429), ONSET BEFORE AGE 2 YEARS(HP:0003667), MOTOR RETARDATION(HP:0001270), SPINAL DEFORMITIES(HP:0008443), AXONAL REGENERATION ON NERVE BIOPSY(HP:0003450), HYPOREFLEXIA(HP:0001265), ONSET IN EARLY CHILDHOOD(HP:0003580), EMG SHOWS NEUROPATHIC CHANGES(HP:0003445), HOARSE VOICE DUE TO VOCAL CORD PARESIS(HP:0001616), HETEROGENEOUS(HP:0001425), PROXIMAL MUSCLE INVOLVEMENT MAY OCCUR(HP:0003475), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV) (LESS THAN 38 M/S)(HP:0000760), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), ONSET IN NEONATAL PERIOD(HP:0003623), CLAW HAND DEFORMITIES (IN SEVERE CASES)(HP:0001178), AREFLEXIA(HP:0001284), OCCASIONAL ONION BULB FORMATIONS(HP:0007013), NERVE BIOPSY SHOWS LOSS OF LARGE MYELINATED FIBERS(HP:0007031), FOOT DROP(HP:0003377), 'STEPPAGE' GAIT(HP:0003376), AXONAL DEGENERATION/REGENERATION ON NERVE BIOPSY(HP:0003378), DEMYELINATION(HP:0003381), HYPERTROPHIC NERVE CHANGES(HP:0003382)]
54345	SOX18	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TELANGIECTASES OF PALMS AND SOLES(HP:0007399), ABNORMALITY OF THE NAILS(HP:0001597), LYMPHEDEMA(HP:0001004), HYPOTRICHOSIS(HP:0001006), NONIMMUNE HYDROPS FETALIS(HP:0001790), HYDROCELE(HP:0000034), AGE OF ONSET(HP:0003674), ABSENT EYEBROWS AND EYELASHES(HP:0002288), ABNORMALITY OF THE TEETH(HP:0000164), THIN SKIN(HP:0000963)]
54361	WNT4	[AMENORRHEA(HP:0000141), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABSENT OR RUDIMENTARY FALLOPIAN TUBES(HP:0008655), HIRSUTISM(HP:0001007), ABSENT UTERUS(HP:0000151), ABSENT VAGINA(HP:0003250), METABOLISM ABNORMALITY(HP:0001939), ACNE(HP:0001061)]
54507	ADAMTSL4	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), UNCOMPLICATED ECTOPIA LENTIS(HP:0008016)]
54583	EGLN1	[INCREASED RED BLOOD CELL MASS(HP:0001898), INCREASED HEMATOCRIT(HP:0001899), INCREASED HEMOGLOBIN(HP:0001900), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
54658	UGT1A1	[JAUNDICE(HP:0000952), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), UNCONJUGATED HYPERBILIRUBINEMIA(HP:0008282), UNCONJUGATED HYPERBILIRUBINEMIA 20-30MG/DL(HP:0008289), KERNICTERUS(HP:0001343), NEONATAL UNCONJUGATED HYPERBILIRUBINEMIA(HP:0008176)]
54704	PDP1	[HYPOKINESIA(HP:0002375), GAIT ATAXIA(HP:0002066), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED ACTIVITY OF THE PYRUVATE DEHYDROGENASE (PDH) COMPLEX(HP:0002928), NYSTAGMUS(HP:0000639), MUSCULAR HYPOTONIA(HP:0001252), LACTIC ACIDEMIA(HP:0003128), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), DYSPHAGIA(HP:0002015), ONSET IN INFANCY(HP:0003576)]
54714	CNGB3	[CONGENITAL COMPLETE ACHROMATOPSIA(HP:0007803), MACULAR DEGENERATION(HP:0000608), CATARACT(HP:0000518), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PHOTOPHOBIA(HP:0000613), CENTRAL RETINITIS PIGMENTOSA(HP:0008506), HORIZONTAL PENDULAR NYSTAGMUS(HP:0007811), SEVERE MYOPIA (> -6.00 DIOPTERS)(HP:0000569)]
54716	SLC6A20	[ABNORMALITY OF THE EYES(HP:0000478), KIDNEY STONES(HP:0000787), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MENTAL RETARDATION(HP:0001249), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYDROXYPROLINURIA(HP:0003080), GLYCINURIA(HP:0002931), PROLINURIA(HP:0003137), HYPERGLYCINURIA(HP:0003108)]
54806	AHI1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), ABNORMALITY OF THE MOUTH(HP:0000153), CENTRAL APNEA(HP:0002871), TACHYPNEA, EPISODIC(HP:0002876), MUSCULAR HYPOTONIA(HP:0001252), ABNORMAL ELECTRORETINOGRAM(HP:0000512), ATAXIA(HP:0001251), MOTOR RETARDATION(HP:0001270), BROAD NASAL BRIDGE(HP:0000431), OCULOMOTOR APRAXIA(HP:0000657), HETEROGENEOUS(HP:0001425), END STAGE RENAL DISEASE(HP:0003774), NARES, ANTEVERTED(HP:0000463), EPICANTHAL FOLDS, MILD(HP:0000624), NYSTAGMUS(HP:0000639), NEONATAL BREATHING DYSREGULATION(HP:0002790), NEPHRONOPHTHISIS(HP:0000090), HIGHLY ARCHED EYEBROWS(HP:0001584), PTOSIS(HP:0000508), THICK AND ELONGATED SUPERIOR CEREBELLAR PEDUNCLES(HP:0002404), PIGMENTARY RETINOPATHY(HP:0000580), LOW-SET EARS(HP:0000369), IMPAIRED VISION(HP:0000505), CEREBELLAR VERMIS HYPOPLASIA(HP:0001320), DEEP POSTERIOR INTERPEDUNCULAR FOSSA(HP:0002420), 'MOLAR TOOTH SIGN' ON MRI(HP:0002419)]
54808	DYM	[SHORT STATURE, DISPROPORTIONATE (SHORT TRUNK)(HP:0003521), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), COARSE FACIAL FEATURES(HP:0000280), DELAYED FEMORAL HEAD OSSIFICATION(HP:0008829), DOLICHOCEPHALY(HP:0000268), HYPOPLASTIC ACETABULAE(HP:0003274), ANTERIOR BEAKING OF VERTEBRAL BODIES(HP:0003313), IRREGULAR, LACY ILIAC CRESTS(HP:0008786), GENU VARUM(HP:0002970), RHIZOMELIC SHORTENING(HP:0002968), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), HYPOPLASTIC FACIAL BONES(HP:0002692), MANDIBULAR PROGNATHIA(HP:0000303), PROMINENT STERNUM(HP:0000884), ATLANTOAXIAL INSTABILITY(HP:0003467), WADDLING GAIT(HP:0002515), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), IRREGULAR METAPHYSES(HP:0003025), BARREL-SHAPED CHEST(HP:0001552), CAMPTODACTYLY (HANDS)(HP:0010563), BROAD FEET(HP:0001769), CARPAL BONE HYPOPLASIA(HP:0001498), GENU VALGUM(HP:0002857), MULTICENTRIC OSSIFICATION OF PROXIMAL FEMORAL EPIPHYSES(HP:0006450), IRREGULAR EPIPHYSES(HP:0010582), MULTICENTRIC OSSIFICATION OF PROXIMAL HUMERAL EPIPHYSES(HP:0004997), SHORT TRUNK(HP:0001524), PSYCHOMOTOR RETARDATION(HP:0001255), PLATYSPONDYLY(HP:0000926), ENLARGEMENT OF THE COSTOCHONDRAL JUNCTION(HP:0000920), FLAT GLENOID FOSSA(HP:0000911), WIDE PUBIC SYMPHYSIS(HP:0003183), FLAT ACETABULAR ROOFS(HP:0003180), SHORT SCAPULAE(HP:0000906), SMALL ILIAC WINGS(HP:0003169), CONE-SHAPED EPIPHYSES OF THE PHALANGES OF THE HAND(HP:0010230), SHORT NECK(HP:0000470), DEFORMED SELLA TURCICA(HP:0002681), THICKENED CALVARIA(HP:0002684), BROAD HANDS(HP:0001169), LUMBAR HYPERLORDOSIS(HP:0002938), THORACIC KYPHOSIS(HP:0002942), NARROW GREATER SACROSCIATIC NOTCHES(HP:0003375), SCOLIOSIS(HP:0002650), MULTICENTRIC FEMORAL HEAD OSSIFICATION(HP:0008835), MICROCEPHALY(HP:0000252)]
54809	SAMD9	[CONJUNCTIVITIS(HP:0000509), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GINGIVITIS(HP:0000230), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478)]
54840	APTX	[CEREBELLAR ATAXIA, SEVERE(HP:0007050), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HIGHLY VARIABLE PHENOTYPE(HP:0003815), VISUAL LOSS(HP:0000572), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), HYPOMETRIC SACCADES(HP:0000571), MUSCLE WEAKNESS, PROGRESSIVE(HP:0003323), MENTAL DETERIORATION IN A SUBSET OF PATIENTS(HP:0006822), MYOGLOBINURIA, EPISODIC(HP:0008313), ENCEPHALOPATHY(HP:0001298), RAGGED-RED MUSCLE FIBERS(HP:0003200), AREFLEXIA(HP:0001284), TREMOR(HP:0001337), NEPHROTIC SYNDROME(HP:0000100), GLOMERULOSCLEROSIS(HP:0000096), LEARNING DISABILITY(HP:0001328), DYSTONIA(HP:0001332), EXTERNAL OPHTHALMOPLEGIA, PROGRESSIVE (PEO)(HP:0000590), NERVE BIOPSY SHOWS AXONAL DEGENERATION(HP:0007304), PES CAVUS(HP:0001761), GAIT ATAXIA(HP:0002066), LIMB ATAXIA(HP:0002070), HEARING LOSS, SENSORINEURAL(HP:0000407), TRUNCAL ATAXIA(HP:0002078), DISTAL AMYOTROPHY(HP:0003693), SEIZURES(HP:0001250), DYSARTHRIA(HP:0001260), GAZE-EVOKED NYSTAGMUS(HP:0000640), MOTOR RETARDATION(HP:0001270), MEMORY IMPAIRMENT(HP:0002354), ONSET IN CHILDHOOD OR ADOLESCENCE(HP:0003661), ADULT ONSET HAS BEEN REPORTED(HP:0003662), HYPOREFLEXIA(HP:0001265), OCULOMOTOR APRAXIA(HP:0000657), CEREBELLAR ATROPHY(HP:0001272), MYOGLOBINURIA(HP:0002913), HYPOKINESIA(HP:0002375), DISTAL SENSORY IMPAIRMENT(HP:0002936), HYPOALBUMINEMIA(HP:0003073), VARIABLE AGE AT ONSET(HP:0003618), RETINITIS PIGMENTOSA(HP:0000510), LACTIC ACIDEMIA(HP:0003128), SCOLIOSIS(HP:0002650), POSTURAL INSTABILITY(HP:0002172), HYPERCHOLESTEROLEMIA(HP:0003124), SCANNING SPEECH(HP:0002168), LOSS OF LARGE MYELINATED FIBERS(HP:0003387), CHOREOATHETOSIS, MORE FREQUENT AT DISEASE ONSET(HP:0007028), EARLY ONSET(HP:0003593), INCREASED SERUM CREATINE KINASE(HP:0002147), DEMENTIA(HP:0000726)]
54862	CC2D1A	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SHORT ATTENTION SPAN(HP:0000736), HYPERACTIVITY(HP:0000752), DULL FACIAL EXPRESSION(HP:0008769), ONSET IN EARLY CHILDHOOD(HP:0003580), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), INCOMPREHENSIBLE SPEECH(HP:0002546)]
54880	BCOR	[MITRAL VALVE PROLAPSE(HP:0001634), THICK EYEBROWS(HP:0000574), VISUAL LOSS(HP:0000572), MICROPHTHALMOS(HP:0000568), CONGENITAL CATARACT(HP:0000519), LONG, NARROW FACIES(HP:0000318), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), LONG PHILTRUM(HP:0000343), 2-3 TOE SYNDACTYLY(HP:0004691), HAIR ABNORMALITY(HP:0001595), EXOTROPIA(HP:0000577), BLEPHAROPHIMOSIS(HP:0000581), PERSISTENCE OF DECIDUOUS TEETH(HP:0006341), DELAYED DENTITION(HP:0000684), HAMMER TOES(HP:0001765), OLIGODONTIA(HP:0000677), HEARING LOSS, SENSORINEURAL(HP:0000407), SUPERNUMERARY TEETH(HP:0000672), DENTAL MALOCCLUSION(HP:0000689), HIGH NASAL BRIDGE(HP:0000442), MENTAL RETARDATION, MILD(HP:0001256), SUBMUCOUS CLEFT PALATE(HP:0000176), SEPTATE VAGINA(HP:0001153), BIFID UVULA(HP:0000193), DECREASED BODY HEIGHT(HP:0004322), BIFID NASAL TIP(HP:0000456), BROAD NASAL TIP(HP:0000455), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), LATERALLY CURVED EYEBROWS(HP:0007733), PERSISTENT HYPERPLASIA OF PRIMARY VITREOUS(HP:0007968), MICROCORNEA(HP:0000482)]
54903	MKS1	[PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), RETINAL DYSTROPHY(HP:0000556), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), CATARACT(HP:0000518), AMBIGUOUS GENITALIA, MALE(HP:0000033), ABNORMALITY OF THE LARYNX(HP:0001600), MICROPENIS(HP:0000054), ELEVATED AMNIOTIC ALPHA-FETOPROTEIN IN AFFECTED FETUSES WITH ENCEPHALOCELE(HP:0005985), BREECH PRESENTATION(HP:0001623), AMBIGUOUS GENITALIA, FEMALE(HP:0000061), ABNORMALITY OF THE URETERS(HP:0000069), IRIS COLOBOMA(HP:0000612), CONGENITAL MEGACOLON(HP:0002251), NYSTAGMUS(HP:0000639), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), RENAL AGENESIS(HP:0000104), OMPHALOCELE(HP:0001539), POLYCYSTIC KIDNEY(HP:0000113), OLIGOHYDRAMNIOS(HP:0001562), HYPOTELORISM(HP:0000601), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), ABNORMALITY OF THE UTERUS(HP:0000130), SHORT, BROAD FEET(HP:0001773), HYPOGONADISM(HP:0000135), HIGH-ARCHED PALATE(HP:0000156), NEONATAL TEETH(HP:0000695), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), CLEFT PALATE(HP:0000175), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), SPLENOMEGALY(HP:0001744), HYPODONTIA(HP:0000668), ASPLENIA(HP:0001746), INTESTINAL MALROTATION(HP:0002566), ACCESSORY SPLEEN(HP:0001747), MENTAL DEFICIENCY(HP:0001267), OCCIPITAL ENCEPHALOCELE(HP:0002085), PULMONARY HYPOPLASIA(HP:0002089), AGENESIS OF CORPUS CALLOSUM(HP:0001274), LOBULATED TONGUE(HP:0000180), MACROSTOMIA(HP:0000181), CLEFT LIP(HP:0000204), CLINODACTYLY OF HANDS(HP:0001157), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), VARIABLE PRENATAL GROWTH DEFICIENCY(HP:0008892), SPEECH DELAY(HP:0002117), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), MICROGNATHIA(HP:0000210), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), HYDROCEPHALUS(HP:0000238), ABNORMALITY OF THE CARDIAC SEPTA(HP:0001671), SINGLE UMBILICAL ARTERY(HP:0001195), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), MICROCEPHALY(HP:0000252), COARCTATION OF AORTA(HP:0001680), HYPERTENSION(HP:0000822), DIABETES MELLITUS(HP:0000819), BOWING OF THE LEGS(HP:0002979), MACROCEPHALY(HP:0000256), HYPERTELORISM(HP:0000316), HEPATIC FIBROSIS(HP:0001395), GENU VARUM(HP:0002970), CEREBRAL HYPOPLASIA(HP:0006872), DANDY-WALKER MALFORMATION(HP:0001305), SLOPING FOREHEAD(HP:0000340), GENU VARUS(HP:0003052), POLYDACTYLY (FEET)(HP:0001829), OLFACTORY LOBE AGENESIS(HP:0001341), LOW-SET EARS(HP:0000369), LEARNING DISABILITY(HP:0001328), CEREBELLAR HYPOPLASIA(HP:0001321), ADRENAL HYPOPLASIA(HP:0000835), HEARING LOSS(HP:0000365), ARNOLD-CHIARI MALFORMATION(HP:0002308), ANENCEPHALY(HP:0002323), ANAL ATRESIA(HP:0002023), HYPOPLASTIC BLADDER(HP:0005343), OBESITY(HP:0001513), HETEROGENEOUS(HP:0001425), POOR COORDINATION(HP:0002370), CONGENITAL PRIMARY APHAKIA(HP:0007707), SHORT NECK(HP:0000470), PLACENTAL ENLARGEMENT(HP:0006267), WEBBED NECK(HP:0000465), BILE DUCT PROLIFERATION(HP:0001408), HIRSUTISM(HP:0001007), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
54904	WHSC1L1	[FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ONSET BEFORE AGE 2 YEARS(HP:0003667)]
54949	SDHAF2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CRANIAL NERVE PALSIES CAN ARISE WITH HEAD AND NECK PARAGANGLIOMAS(HP:0002377), PARAGANGLIOMAS, HEAD AND NECK(HP:0002864), GLOMUS JUGULAR TUMORS(HP:0003001), VAGAL NERVE TUMORS (GLOMUS VAGALE)(HP:0002886), HOARSE VOICE (CAUSED BY TUMOR IMPINGEMENT)(HP:0001613), MULTIPLE TUMORS(HP:0003008), VOCAL CORD PARALYSIS(HP:0001605), VOCAL CORD PARALYSIS (CAUSED BY TUMOR IMPINGEMENT)(HP:0001606), TYMPANIC NERVE TUMORS (GLOMUS TYMPANICUM)(HP:0002892), LOSS OF VOICE(HP:0001686), ONSET IN ADULTHOOD(HP:0003581), PULSATILE TINNITUS (TYMPANIC PARAGANGLIOMA)(HP:0000361)]
54977	SLC25A38	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANEMIA(HP:0001903)]
54982	CLN6	[RETINAL DEGENERATION(HP:0000546), NEUROPHYSIOLOGICAL ABNORMALITY(HP:0001311), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), AUTOFLUORESCENT LIPOPIGMENT IN NEURONS(HP:0002074), 'CURVILINEAR' PROFILES ULTRASTRUCTURALLY(HP:0003205), 'FINGERPRINT' PROFILES ULTRASTRUCTURALLY(HP:0003208), MOTOR DETERIORATION(HP:0002333), SEIZURES(HP:0001250), PROGRESSIVE VISUAL LOSS(HP:0000529)]
55145	THAP1	[CRANIAL DYSTONIA(HP:0001494), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), TORSION DYSTONIA(HP:0001304), HEAD ABNORMALITY(HP:0000234), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TORTICOLLIS(HP:0000473), LIMB DYSTONIA(HP:0002451)]
55163	PNPO	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANEMIA(HP:0001903), FEEDING DIFFICULTIES(HP:0002022), METABOLIC ACIDOSIS(HP:0001942), MYOCLONUS(HP:0001336), HYPOGLYCEMIA(HP:0001943), SEIZURES(HP:0001250), FAILURE TO THRIVE(HP:0001508), INCREASED SERUM LACTATE(HP:0002151), MICROCEPHALY, PROGRESSIVE(HP:0000253), DECREASED CSF HOMOVANILLIC ACID (HVA)(HP:0003785), PREMATURE BIRTH(HP:0001622)]
55212	BBS7	[HYPERTENSION(HP:0000822), DIABETES MELLITUS(HP:0000819), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), CATARACT(HP:0000518), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), ABNORMALITY OF THE KIDNEYS(HP:0000077), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), LEARNING DISABILITY(HP:0001328), BILIARY TRACT ABNORMALITY(HP:0001080), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), HYPOGONADISM(HP:0000135), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), OBESITY(HP:0001513), CLINODACTYLY OF HANDS(HP:0001157), POOR COORDINATION(HP:0002370), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), HIRSUTISM(HP:0001007), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
55343	SLC35C1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), OTITIS MEDIA(HP:0000388), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), PERIODONTITIS(HP:0000165), HEMATOLOGICAL ABNORMALITY(HP:0001871), PNEUMONIA(HP:0002090), INTEGUMENT ABNORMALITY(HP:0001574), DECREASED BODY HEIGHT(HP:0004322), CEREBRAL CORTICAL ATROPHY(HP:0002120), MARKEDLY REDUCED NEUTROPHIL MOTILITY(HP:0005400), METABOLISM ABNORMALITY(HP:0001939), MICROCEPHALY(HP:0000252), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
55505	NOP10	[APLASTIC ANEMIA(HP:0001915), HYPERPIGMENTATION(HP:0000953), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ORAL LEUKOPLAKIA(HP:0002745), ESOPHAGEAL STRICTURE(HP:0002043), EPIPHORA(HP:0001486), MICRODONTIA(HP:0000691), SPARSE EYELASHES(HP:0000653), PANCYTOPENIA(HP:0001876), CARIOUS TEETH(HP:0000670), SPARSE SCALP HAIR(HP:0002209), PTERYGIUM FORMATION (NAILS)(HP:0002165), NAIL DYSPLASIA(HP:0002164), NASOLACRIMAL DUCT OBSTRUCTION(HP:0000579), MICROCEPHALY(HP:0000252), NAIL HYPOPLASIA(HP:0001792)]
55605	KIF21A	[PTOSIS(HP:0000508), CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES(HP:0001491), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF MUSCULATURE(HP:0003011), RESTRICTIVE EXTERNAL OPHTHALMOPLEGIA(HP:0007936), COMPENSATORY CHIN ELEVATION(HP:0001477), RESTRICTIVE EXTERNAL OPTHALMOPLEGIA, BILATERAL(HP:0008025)]
55612	FERMT1	[DERMAL ATROPHY(HP:0004334), AMNIOTIC BANDS(HP:0009775), ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FRAGILE SKIN(HP:0001030), PHOTOSENSITIVITY(HP:0000992), SPOTTY HYPOPIGMENTATION(HP:0005590), SPOTTY HYPERPIGMENTATION(HP:0005585), PERIODONTAL DISEASE(HP:0000704), TELANGIECTASES IN SUN-EXPOSED AND NONEXPOSED SKIN(HP:0007561), PHIMOSIS(HP:0001741), GROOVED NAILS(HP:0001811), DIFFUSE SKIN ATROPHY(HP:0007488), CARIOUS TEETH(HP:0000670), PALMOPLANTAR HYPERKERATOSIS(HP:0000972)]
55624	POMGNT1	[RETINAL HYPOPLASIA(HP:0007770), MALAR HYPOPLASIA(HP:0000272), RETINAL DEGENERATION(HP:0000546), MYOPIA, CONGENITAL(HP:0008012), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES(HP:0003544), TYPE II LISSENCEPHALY(HP:0007260), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR DYSTROPHY, CONGENITAL(HP:0003793), CATARACT(HP:0000518), HIGH FLASH VISUAL EVOKED POTENTIALS(HP:0008045), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), SHORT NASAL BRIDGE(HP:0003194), GENERALIZED MUSCLE WEAKNESS(HP:0003324), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), SPASTICITY(HP:0001257), EEG ABNORMALITIES(HP:0002353), DECREASED OR ABSENT ELECTRORETINOGRAM(HP:0007636), ONSET AT BIRTH(HP:0003577), PACHYGYRIA(HP:0001302), GENERALIZED HYPOTONIA(HP:0001290), VENTRICULOMEGALY(HP:0002119), NYSTAGMUS(HP:0000639), MILD MICROGNATHIA(HP:0000330), HYDROCEPHALUS(HP:0000238), MYOCLONUS(HP:0001336), UNCONTROLLED EYE MOVEMENTS(HP:0007738), EVERTED LOWER LIP(HP:0000232), GLAUCOMA(HP:0000501), CEREBELLAR HYPOPLASIA(HP:0001321), INCREASED SERUM CREATINE KINASE(HP:0002147)]
55630	SLC39A4	[LOW ALKALINE PHOSPHATASE(HP:0003282), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOGONADISM(HP:0000135), HISTOLOGICAL ABNORMALITY OF THE SKIN(HP:0001478), ABNORMALITY OF THE MOUTH(HP:0000153), POOR APPETITE(HP:0004396), CEREBELLAR ATAXIA(HP:0001253), DIARRHEA(HP:0002014), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), ONSET IN INFANCY(HP:0003576), IMPAIRED T CELL FUNCTION(HP:0005435), IRRITABILITY(HP:0000737), DECREASED BODY HEIGHT(HP:0004322), HEPATOMEGALY(HP:0002240), TREMOR(HP:0001337), EMOTIONAL LABILITY(HP:0000712), FREQUENT CANDIDA INFECTIONS(HP:0005401), PARONYCHIA(HP:0001818), DECREASED TESTOSTERONE IN MALES(HP:0008230), ALOPECIA OF SCALP(HP:0002293), DECREASED TESTICULAR SIZE(HP:0008734), ECZEMA(HP:0000964)]
55636	CHD7	[MIXED HEARING LOSS(HP:0000410), DELAYED PUBERTY(HP:0000823), SMALL EARS(HP:0000409), ABNORMALITY OF THE NIPPLES(HP:0004404), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), GROWTH HORMONE DEFICIENCY(HP:0000824), DEAFNESS(HP:0000404), TETRALOGY OF FALLOT(HP:0001636), LOP EARS(HP:0000394), ANAL ATRESIA(HP:0002023), FEEDING DIFFICULTIES(HP:0002022), ANAL STENOSIS(HP:0002025), ANOPHTHALMIA, CLINICAL(HP:0001485), COLOBOMA OF IRIS, CHOROID AND RETINA(HP:0007748), CRYPTORCHIDISM(HP:0000028), HYPOPLASTIC/SMALL THUMB(HP:0009778), CLEFT PALATE(HP:0000175), PRIMARY AMENORRHEA(HP:0000786), MENTAL RETARDATION(HP:0001249), POSTERIOR CHOANAL ATRESIA(HP:0004496), DYSPHAGIA(HP:0002015), HYPERTELORISM(HP:0000316), ABNORMALITY OF THE RIBS(HP:0000772), MICROPENIS(HP:0000054), ATRIAL SEPTAL DEFECT(HP:0001631), TRACHEOESOPHAGEAL FISTULA(HP:0002575), CLEFT LIP(HP:0000204), ABNORMAL PALMAR DERMATOGLYPHICS(HP:0001018), LABIAL HYPOPLASIA(HP:0000066), POLYDACTYLY (HANDS)(HP:0001161), FACIAL MUSCLE WEAKNESS(HP:0010628), ARRHINENCEPHALY(HP:0002139), WEBBED NECK(HP:0000465), HORSESHOE KIDNEY(HP:0000085), ABNORMALITY OF THE CRANIAL NERVES(HP:0001291), DOUBLE OUTLET RIGHT VENTRICLE(HP:0001719), FACIAL ASYMMETRY(HP:0000324), ECTRODACTYLY (HANDS)(HP:0001171), SQUARE FACE(HP:0000321), HEMIVERTEBRAE(HP:0002937), RENAL HYPOPLASIA(HP:0000089), MICROGNATHIA(HP:0000210), ISOLATED CASES(HP:0001420), ISOLATED HYPOGONADOTROPIC HYPOGONADISM(HP:0008224), PTOSIS(HP:0000508), SCOLIOSIS(HP:0002650), UMBILICAL HERNIA(HP:0001537), RENAL AGENESIS(HP:0000104), CUP-SHAPED EARS(HP:0000378), PARATHYROID HYPOPLASIA(HP:0000860), OMPHALOCELE(HP:0001539), MICROCEPHALY(HP:0000252), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), HYPOPLASTIC MALE GENITALIA(HP:0008721), OCULAR COLOBOMA(HP:0007995), DECREASED TESTICULAR SIZE(HP:0008734), HYDRONEPHROSIS(HP:0000126), SLOPING SHOULDERS(HP:0001556), RETINAL COLOBOMA(HP:0000480)]
55640	FLVCR2	[HYDROCEPHALUS(HP:0000238), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYDRANENCEPHALY(HP:0002324)]
55651	NHP2	[APLASTIC ANEMIA(HP:0001915), HYPERPIGMENTATION(HP:0000953), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ORAL LEUKOPLAKIA(HP:0002745), ESOPHAGEAL STRICTURE(HP:0002043), EPIPHORA(HP:0001486), MICRODONTIA(HP:0000691), SPARSE EYELASHES(HP:0000653), PANCYTOPENIA(HP:0001876), CARIOUS TEETH(HP:0000670), SPARSE SCALP HAIR(HP:0002209), PTERYGIUM FORMATION (NAILS)(HP:0002165), NAIL DYSPLASIA(HP:0002164), NASOLACRIMAL DUCT OBSTRUCTION(HP:0000579), MICROCEPHALY(HP:0000252), NAIL HYPOPLASIA(HP:0001792)]
55670	PEX26	[DELAYED SKELETAL MATURATION(HP:0002750), PATENT DUCTUS ARTERIOSUS(HP:0001643), MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), BRUSHFIELD SPOTS(HP:0001088), EPICANTHUS(HP:0000286), MACROCEPHALY(HP:0000256), ESOTROPIA(HP:0000565), PROLONGED NEONATAL JAUNDICE(HP:0006579), CRYPTORCHIDISM(HP:0000028), DOLICHOCEPHALY(HP:0000268), CATARACT(HP:0000518), OCCIPITAL PLAGIOCEPHALY(HP:0005469), INTRAHEPATIC BILIARY DYSGENESIS(HP:0001401), ABNORMAL ELECTRORETINOGRAM(HP:0000512), ROUND FACE(HP:0000311), VERY LONG CHAIN FATTY ACID ACCUMULATION(HP:0008167), CORNEAL CLOUDING(HP:0000515), DECREASED DEEP TENDON REFLEXES(HP:0002467), REDUNDANT SKIN FOLDS(HP:0007391), HYPERTELORISM(HP:0000316), HYPOSPADIAS(HP:0000047), VENTRICULAR SEPTAL DEFECT(HP:0001629), HEMATOLOGICAL ABNORMALITY(HP:0001871), REDUNDANT SKIN FOLDS OF NECK(HP:0005996), CUBITUS VALGUS(HP:0002967), PALE OPTIC DISKS(HP:0000543), CLITOROMEGALY(HP:0000057), APLASIA/HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0007370), MINOR FACIAL DYSMORPHISM(HP:0004675), HIGH FOREHEAD(HP:0000348), METATARSUS VARUS(HP:0001840), STIPPLING OF THE EPIPHYSES(HP:0010655), BELL-SHAPED CHEST(HP:0001591), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), LOW-SET EARS(HP:0000369), PIGMENTARY RETINOPATHY(HP:0000580), UPSLANTING PALPEBRAL FISSURES(HP:0000582), ABNORMALITY OF THE HELIX(HP:0000380), ADRENAL HYPOPLASIA(HP:0000835), POSTERIORLY ROTATED EARS(HP:0000358), HYPOPLASTIC OLFACTORY LOBES(HP:0006894), HETEROTOPIA(HP:0002282), HYDRONEPHROSIS(HP:0000126), ADRENAL INSUFFICIENCY(HP:0000846), RENAL CORTICAL MICROCYSTS(HP:0004734), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), TALIPES EQUINOVARUS(HP:0001762), TRANSVERSE PALMAR CREASES(HP:0000954), HEARING LOSS, SENSORINEURAL(HP:0000407), HIGH-ARCHED PALATE(HP:0000156), OSTEOPOROSIS(HP:0000939), HYPOCHOLESTEROLEMIA(HP:0003146), MACROGLOSSIA(HP:0000158), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), POLYNEUROPATHY(HP:0001271), FAILURE TO THRIVE(HP:0001508), BROAD NASAL BRIDGE(HP:0000431), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), HYPOREFLEXIA(HP:0001265), PULMONARY HYPOPLASIA(HP:0002089), STEATORRHEA(HP:0002570), HYPOKINESIA(HP:0002375), NARES, ANTEVERTED(HP:0000463), FLAT NOSE(HP:0000457), CONGENITAL VERTICAL TALUS(HP:0010218), POLYMICROGYRIA(HP:0002126), MICROGNATHIA(HP:0000210), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), AMINOACIDURIA(HP:0002903), SUBEPENDYMAL CYSTS(HP:0002416), BRACHYTURRICEPHALY(HP:0000244)]
55755	CDK5RAP2	[SMALL BUT STRUCTURALLY NORMAL CEREBRAL CORTEX(HP:0007151), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MICROCEPHALY(HP:0000252), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122)]
55777	MBD5	[HYPOKINESIA(HP:0002375), FEBRILE SEIZURES(HP:0002373), ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), MOTOR RETARDATION(HP:0001270)]
55788	LMBRD1	[CYSTATHIONINEMIA(HP:0003286), DECREASED METHIONINE SYNTHASE (MTR, 156570) ACTIVITY(HP:0003524), SMALL EARS(HP:0000409), INCOORDINATION(HP:0002311), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CYSTATHIONINURIA(HP:0003153), EPICANTHUS(HP:0000286), HIGH-ARCHED PALATE(HP:0000156), DECREASED ADENOSYLCOBALAMIN (ADOCBL)(HP:0003145), FEEDING DIFFICULTIES(HP:0002022), MEGALOBLASTIC ANEMIA(HP:0001889), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), NEUTROPENIA(HP:0001875), DEVELOPMENTAL RETARDATION(HP:0001263), PANCYTOPENIA(HP:0001876), FAILURE TO THRIVE(HP:0001508), ONSET IN INFANCY(HP:0003576), METHYLMALONIC ACIDEMIA(HP:0002912), HYPOKINESIA(HP:0002375), GLOSSITIS(HP:0000206), DECREASED METHYLCOBALAMIN (MECBL)(HP:0003223), THIN UPPER LIP(HP:0000219), LOW-SET EARS(HP:0000369), SKIN RASH(HP:0000988), HOMOCYSTINEMIA(HP:0002160), HOMOCYSTINURIA(HP:0002156)]
55806	HR	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PAPILLARY LESIONS, GENERALIZED(HP:0007482), ALOPECIA(HP:0001596), HYPOTRICHOSIS(HP:0001006), LITTLE OR NO EYEBROWS, EYELASHES OR BODY HAIR(HP:0004519), METABOLISM ABNORMALITY(HP:0001939), PILI TORTI(HP:0003777)]
55812	SPATA7	[RETINITIS PIGMENTOSA(HP:0000510), CONSTRICTED VISUAL FIELDS(HP:0001133), NIGHT BLINDNESS(HP:0000662)]
55835	CENPJ	[SMALL CEREBRAL CORTEX(HP:0002472), HETEROGENEOUS(HP:0001425), MENTAL RETARDATION, MODERATE(HP:0002342), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MICROCEPHALY(HP:0000252)]
55997	CFC1	[DOUBLE OUTLET RIGHT VENTRICLE(HP:0001719), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
56052	ALG1	[CONTRACTURES(HP:0001371), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CARDIOMYOPATHY(HP:0001638), HYPOGONADISM(HP:0000135), CEREBRAL ATROPHY(HP:0002059), NONIMMUNE HYDROPS FETALIS(HP:0001790), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEATH IN INFANCY(HP:0001522), HYPERTELORISM(HP:0000316), SPLENOMEGALY(HP:0001744), HYPOKINESIA(HP:0002375), ABNORMAL ISOELECTRIC FOCUSING OF SERUM TRANSFERRIN (TYPE 1 PATTERN)(HP:0003642), HEPATOMEGALY(HP:0002240), AREFLEXIA(HP:0001284), MICROGNATHIA(HP:0000210), LARGE FONTANELLES(HP:0000239), MICROCEPHALY(HP:0000252), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560)]
56172	ANKH	[MIXED HEARING LOSS(HP:0000410), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), POLYARTICULAR CHONDROCALCINOSIS(HP:0005017), BONY PARANASAL BOSSING(HP:0004407), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE VERTEBRAL COLUMN(HP:0000925), AGE OF ONSET(HP:0003674), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), NASAL OBSTRUCTION LEADING TO MOUTH BREATHING(HP:0001742), ABNORMALITY OF THE TEETH(HP:0000164), 'ERLENMEYER FLASK' DEFORMITY OF DISTAL FEMUR(HP:0006422), GROWTH ABNORMALITY(HP:0001507), SCLEROTIC SKULL BASE(HP:0002694), MANDIBULAR PROGNATHIA(HP:0000303), ARTHROPATHY(HP:0003040), FACIAL MUSCLE WEAKNESS(HP:0010628), CLUB-SHAPED DISTAL FEMUR(HP:0006384), METAPHYSEAL WIDENING(HP:0003016), ABNORMALITY OF THE PELVIS(HP:0002644), OSTEOARTHRITIS(HP:0002758)]
56246	MRAP	[PLASMA CORTISOL LOW(HP:0008163), HYPERPIGMENTATION(HP:0000953), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ELEVATED PLASMA ACTH(HP:0003154), RECURRENT HYPOGLYCEMIC EPISODES(HP:0001988)]
56623	INPP5E	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DYSGENESIS OR AGENESIS OF THE CEREBELLAR VERMIS(HP:0002195), EPICANTHUS(HP:0000286), CHORIORETINAL COLOBOMA(HP:0000567), MACROCEPHALY(HP:0000256), VARIABLE PHENOTYPE(HP:0003813), MENINGOMYELOCELE(HP:0002475), HEPATIC FIBROSIS(HP:0001395), RETINAL DYSTROPHY, CONGENITAL, NONPROGRESSIVE(HP:0007910), MICROPENIS(HP:0000054), MALFORMATION OF BRAINSTEM STRUCTURES(HP:0002508), CATARACTS DEVELOP IN SECOND OR THIRD DECADE(HP:0007825), ABNORMALITY OF OCULAR SMOOTH PURSUIT(HP:0000617), ABNORMAL, JERKY EYE MOVEMENTS(HP:0000628), NEONATAL BREATHING DYSREGULATION(HP:0002790), HIGHLY ARCHED EYEBROWS(HP:0001584), LOW-SET EARS(HP:0000369), OPTIC NERVE COLOBOMA(HP:0000588), RENAL CYSTS(HP:0000107), CEREBELLAR VERMIS HYPOPLASIA(HP:0001320), IMPAIRED SACCADES(HP:0000604), ABNORMALITY OF THE FEET(HP:0001760), CENTRAL APNEA(HP:0002871), MACROGLOSSIA(HP:0000158), OCCIPITAL MYELOMENINGOCELE(HP:0007271), TACHYPNEA, EPISODIC(HP:0002876), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), FRONTAL BOSSING(HP:0002007), MENTAL RETARDATION, MODERATE(HP:0002342), TRUNCAL OBESITY APPARENT IN CHILDHOOD(HP:0008915), HYPOPLASIA OF THE BRAINSTEM(HP:0002365), OCULOMOTOR APRAXIA(HP:0000657), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SELF-MUTILATION(HP:0000742), NARES, ANTEVERTED(HP:0000463), HYPERACTIVITY(HP:0000752), PTOSIS(HP:0000508), THICK AND ELONGATED SUPERIOR CEREBELLAR PEDUNCLES(HP:0002404), REDUCED VISUAL ACUITY BY AGE 3 YEARS(HP:0007983), AGGRESSIVE BEHAVIOR(HP:0000718), RETINAL DYSPLASIA(HP:0007973), DEEP POSTERIOR INTERPEDUNCULAR FOSSA(HP:0002420), 'MOLAR TOOTH SIGN' ON MRI(HP:0002419)]
56652	C10orf2	[DISCONJUGATE EYE MOVEMENTS(HP:0000549), DILATED CARDIOMYOPATHY(HP:0001644), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTESTINAL PSEUDO-OBSTRUCTION(HP:0004389), HIGHLY VARIABLE PHENOTYPE(HP:0003815), ELECTRON MICROSCOPY SHOWS SUBSARCOLEMMAL ACCUMULATIONS OF ABNORMALLY SHAPED MITOCHONDRIA(HP:0003548), LIVER TISSUE SHOWS 80 TO 99% DEPLETION OF MITOCHONDRIAL DNA(HP:0006581), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), PERIPORTAL FIBROSIS(HP:0001405), INCREASED VARIABILITY IN MUSCLE FIBER SIZE(HP:0003557), HEPATOCELLULAR NECROSIS(HP:0001404), CATARACT(HP:0000518), HEPATIC STEATOSIS(HP:0001397), MUSCLE BIOPSY SHOWS MULTIPLE MITOCHONDRIAL DNA (MTDNA) DELETIONS IN MOST CASES(HP:0003801), HEPATIC FAILURE(HP:0001399), THROMBOCYTOPENIA(HP:0001873), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), MUSCLE WEAKNESS, PROGRESSIVE(HP:0003323), PROXIMAL MUSCLE WEAKNESS, MILD(HP:0009033), ONSET IN ADULTHOOD(HP:0003581), ATROPHY/DEGENERATION INVOLVING THE SPINAL CORD(HP:0007344), ENCEPHALOPATHY(HP:0001298), PARKINSONISM(HP:0001300), RAGGED-RED MUSCLE FIBERS(HP:0003200), DISTAL SENSORY LOSS OF PROPRIOCEPTION AND VIBRATION SENSE(HP:0006858), MILDLY INCREASED SERUM CREATINE KINASE(HP:0003211), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), MYOCLONUS(HP:0001336), MUSCLE BIOPSY SHOWS DECREASED ACTIVITY OF CYTOCHROME C OXIDASE IN MOST CASES(HP:0003734), ASCITES(HP:0001541), EXTERNAL OPHTHALMOPLEGIA, PROGRESSIVE (PEO)(HP:0000590), DECREASED ACTIVITIES OF MITOCHONDRIAL-ENCODED RESPIRATORY CHAIN COMPLEXES(HP:0008972), ABSENT DEEP TENDON REFLEXES(HP:0001314), MUSCLE BIOPSY SHOWS NECROTIC AND ATROPHIC FIBERS WITH CENTRALIZED NUCLEI(HP:0003726), ATHETOSIS(HP:0002305), JAUNDICE(HP:0000952), CLUMSINESS(HP:0002312), HYPOTHERMIA(HP:0002045), HEARING LOSS, SENSORINEURAL(HP:0000407), MIGRAINE(HP:0002076), DEAFNESS(HP:0000404), LIMB MUSCLE WEAKNESS(HP:0003690), FEEDING DIFFICULTIES(HP:0002022), CEREBRAL ATROPHY(HP:0002059), MUSCULAR HYPOTONIA(HP:0001252), OPTIC ATROPHY(HP:0000648), SEIZURES(HP:0001250), PROGRESSIVE DISORDER(HP:0003676), SENSORY ATAXIC NEUROPATHY(HP:0003434), GASTROPARESIS(HP:0002578), LOSS OF ABILITY TO WALK(HP:0006957), DYSARTHRIA(HP:0001260), VOMITING(HP:0002013), SPLENOMEGALY(HP:0001744), POLYNEUROPATHY(HP:0001271), FAILURE TO THRIVE(HP:0001508), HYPOREFLEXIA(HP:0001265), VESTIBULAR DYSFUNCTION(HP:0001751), CEREBELLAR ATROPHY(HP:0001272), MITOCHONDRIAL INHERITANCE(HP:0001427), HYPOKINESIA(HP:0002375), HETEROGENEOUS(HP:0001425), COGNITIVE IMPAIRMENT, MILD(HP:0002129), MILDLY INCREASED SERUM LACTATE(HP:0003638), GAIT ATAXIA, PROGRESSIVE(HP:0002142), ABNORMAL LIVER FUNCTION TESTS(HP:0001411), PORTAL HYPERTENSION(HP:0001409), MICRONODULAR CIRRHOSIS(HP:0001413), HYPOALBUMINEMIA(HP:0003073), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), DEPRESSION(HP:0000716), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), POSITIVE ROMBERG SIGN(HP:0002403), MICROCEPHALY(HP:0000252), COAGULOPATHY(HP:0001925), SENSORY AXONAL NEUROPATHY(HP:0003390), HYPERBILIRUBINEMIA(HP:0002904), LATE ONSET(HP:0003584), GENERALIZED AMINOACIDURIA(HP:0002909)]
56922	MCCC1	[MACRO- AND MICROVESICULAR STEATOSIS, ACUTE(HP:0006573), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HIGHLY VARIABLE PHENOTYPE(HP:0003815), FEEDING DIFFICULTIES(HP:0002022), OPISTHOTONUS(HP:0002179), HYPERREFLEXIA(HP:0001347), HYPERAMMONEMIA, ACUTE(HP:0008281), PSYCHOMOTOR RETARDATION(HP:0001255), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), APNEA(HP:0002104), COMA(HP:0001259), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), METABOLIC ACIDOSIS, EPISODIC(HP:0004911), HYPOKINESIA(HP:0002375), HETEROGENEOUS(HP:0001425), KETONURIA(HP:0002919), HYPOGLYCEMIA(HP:0001943), RESPIRATORY ARREST(HP:0005943)]
56945	MRPS22	[MITOCHONDRIAL INHERITANCE(HP:0001427), HYPOKINESIA(HP:0002375), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE URINARY TRACT(HP:0000079), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), MUSCULAR HYPOTONIA(HP:0001252), ASCITES(HP:0001541), INCREASED SERUM LACTATE(HP:0002151), EDEMA(HP:0000969), ABNORMALITY OF THE AMNIOTIC FLUID(HP:0001560), METABOLIC ACIDOSIS, SEVERE(HP:0004907)]
56975	FAM20C	[GENERALIZED OSTEOSCLEROSIS(HP:0005711), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), NEONATAL DEATH(HP:0003811), NASAL HYPOPLASIA(HP:0003196), CLEFT PALATE(HP:0000175), EXOPHTHALMOS(HP:0000645), PULMONARY HYPOPLASIA(HP:0002089), GINGIVAL HYPERPLASIA(HP:0000212), CHOANAL ATRESIA(HP:0000453), LOW-SET EARS(HP:0000369), MICROCEPHALY(HP:0000252), RECURRENT FRACTURES(HP:0002757)]
56997	CABC1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), HIGHLY VARIABLE PHENOTYPE(HP:0003815), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), VISUAL LOSS(HP:0000572), CEREBELLAR ATAXIA(HP:0001253), SEIZURES(HP:0001250), DYSARTHRIA(HP:0001260), MUSCLE WEAKNESS, PROGRESSIVE(HP:0003323), MOTOR RETARDATION(HP:0001270), MEMORY IMPAIRMENT(HP:0002354), MYOGLOBINURIA, EPISODIC(HP:0008313), CEREBELLAR ATROPHY(HP:0001272), ONSET IN CHILDHOOD(HP:0003578), HYPOKINESIA(HP:0002375), MYOGLOBINURIA(HP:0002913), ENCEPHALOPATHY(HP:0001298), RAGGED-RED MUSCLE FIBERS(HP:0003200), VARIABLE AGE AT ONSET(HP:0003618), NYSTAGMUS(HP:0000639), RETINITIS PIGMENTOSA(HP:0000510), NEPHROTIC SYNDROME(HP:0000100), LACTIC ACIDEMIA(HP:0003128), GLOMERULOSCLEROSIS(HP:0000096), LEARNING DISABILITY(HP:0001328), POSTURAL INSTABILITY(HP:0002172), SCANNING SPEECH(HP:0002168), INCREASED SERUM CREATINE KINASE(HP:0002147)]
57017	COQ9	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), HIGHLY VARIABLE PHENOTYPE(HP:0003815), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), VISUAL LOSS(HP:0000572), CEREBELLAR ATAXIA(HP:0001253), SEIZURES(HP:0001250), DYSARTHRIA(HP:0001260), MUSCLE WEAKNESS, PROGRESSIVE(HP:0003323), MOTOR RETARDATION(HP:0001270), MEMORY IMPAIRMENT(HP:0002354), MYOGLOBINURIA, EPISODIC(HP:0008313), CEREBELLAR ATROPHY(HP:0001272), ONSET IN CHILDHOOD(HP:0003578), HYPOKINESIA(HP:0002375), MYOGLOBINURIA(HP:0002913), ENCEPHALOPATHY(HP:0001298), RAGGED-RED MUSCLE FIBERS(HP:0003200), VARIABLE AGE AT ONSET(HP:0003618), NYSTAGMUS(HP:0000639), RETINITIS PIGMENTOSA(HP:0000510), NEPHROTIC SYNDROME(HP:0000100), LACTIC ACIDEMIA(HP:0003128), GLOMERULOSCLEROSIS(HP:0000096), LEARNING DISABILITY(HP:0001328), POSTURAL INSTABILITY(HP:0002172), SCANNING SPEECH(HP:0002168), INCREASED SERUM CREATINE KINASE(HP:0002147)]
57107	PDSS2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), HIGHLY VARIABLE PHENOTYPE(HP:0003815), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), VISUAL LOSS(HP:0000572), CEREBELLAR ATAXIA(HP:0001253), SEIZURES(HP:0001250), DYSARTHRIA(HP:0001260), MUSCLE WEAKNESS, PROGRESSIVE(HP:0003323), MOTOR RETARDATION(HP:0001270), MEMORY IMPAIRMENT(HP:0002354), MYOGLOBINURIA, EPISODIC(HP:0008313), CEREBELLAR ATROPHY(HP:0001272), ONSET IN CHILDHOOD(HP:0003578), HYPOKINESIA(HP:0002375), MYOGLOBINURIA(HP:0002913), ENCEPHALOPATHY(HP:0001298), RAGGED-RED MUSCLE FIBERS(HP:0003200), VARIABLE AGE AT ONSET(HP:0003618), NYSTAGMUS(HP:0000639), RETINITIS PIGMENTOSA(HP:0000510), NEPHROTIC SYNDROME(HP:0000100), LACTIC ACIDEMIA(HP:0003128), GLOMERULOSCLEROSIS(HP:0000096), LEARNING DISABILITY(HP:0001328), POSTURAL INSTABILITY(HP:0002172), SCANNING SPEECH(HP:0002168), INCREASED SERUM CREATINE KINASE(HP:0002147)]
57120	GOPC	[INFERTILITY(HP:0000789), METABOLISM ABNORMALITY(HP:0001939)]
57152	SLURP1	[BRACHYDACTYLY(HP:0001156), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ICHTHYOSIS(HP:0000955), ABNORMALITY OF THE MOUTH(HP:0000153), CONGENITAL SYMMETRICAL PALMOPLANTAR KERATOSIS(HP:0007553), FRAGILE NAILS(HP:0001808), HYPERHIDROSIS(HP:0000975), ONSET IN EARLY INFANCY(HP:0003591)]
57165	GJC2	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), HYPOMYELINATION OF THE BRAIN(HP:0006808), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SPASTIC PARAPARESIS(HP:0002313), HEAD TITUBATION(HP:0002599), SPASTICITY, PROGRESSIVE(HP:0002191), CEREBRAL ATROPHY(HP:0002059), MOTOR DEVELOPMENTAL MILESTONES NOT ACHIEVED(HP:0006950), ATAXIA(HP:0001251), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), DYSARTHRIA(HP:0001260), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003431), CHOREOATHETOSIS(HP:0001266), ONSET IN INFANCY(HP:0003576), PERIPHERAL NEUROPATHY, MILD(HP:0007235), ROTARY NYSTAGMUS(HP:0001583), COGNITIVE IMPAIRMENT(HP:0002128), FACIAL MUSCLE WEAKNESS(HP:0010628), DEMYELINATING MOTOR NEUROPATHY(HP:0007220), X-LINKED INHERITANCE(HP:0001417), BABINSKI SIGN(HP:0003487), TREMOR(HP:0001337), LEUKODYSTROPHY(HP:0002415), SENSORY AXONAL NEUROPATHY(HP:0003390)]
57167	SALL4	[EXTERNAL OPHTHALMOPLEGIA(HP:0000544), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HIGHLY VARIABLE PHENOTYPE(HP:0003815), GLOBE RETRACTION AND DEVIATION ON ADDUCTION(HP:0001109), APLASIA OF THE THUMB(HP:0009777), MICROPHTHALMOS(HP:0000568), CATARACT(HP:0000518), VENTRICULAR SEPTAL DEFECT(HP:0001629), SPINA BIFIDA OCCULTA(HP:0003298), ATRIAL SEPTAL DEFECT(HP:0001631), IMPAIRED OCULAR ADDUCTION(HP:0000542), IRIS COLOBOMA(HP:0000612), VESICOURETERAL REFLUX(HP:0000076), IMPAIRED CONVERGENCE(HP:0000619), HORSESHOE KIDNEY(HP:0000085), EPICANTHAL FOLDS, MILD(HP:0000624), CONGENITAL MEGACOLON(HP:0002251), IMPAIRED OCULAR ABDUCTION(HP:0000634), RENAL HYPOPLASIA(HP:0000089), RENAL AGENESIS(HP:0000104), HYDRONEPHROSIS(HP:0000126), PES PLANUS(HP:0001763), RECTOVAGINAL FISTULA(HP:0000143), RADIAL RAY HYPOPLASIA(HP:0005014), PECTORALIS MAJOR MUSCLE HYPOPLASIA(HP:0008953), THENAR HYPOPLASIA(HP:0001245), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), INTESTINAL MALROTATION(HP:0002566), PALPEBRAL FISSURE NARROWING ON ADDUCTION(HP:0000661), SYNDACTYLY(HP:0001159), LIMITED INTERPHALANGEAL MOVEMENT(HP:0006064), SCOLIOSIS(HP:0002650), TRIPHALANGEAL THUMB(HP:0001199), MILD THROMBOCYTOPENIA(HP:0001906), HYPOPLASTIC/SHORT 1ST METACARPAL(HP:0010034), RADIAL DEVIATION OF THE HAND(HP:0009486), LIMITED ELBOW MOVEMENT(HP:0002996), HYPOPLASIA OF DELTOID MUSCLE(HP:0009044), FUSED CERVICAL VERTEBRAE(HP:0002949), HYPERTELORISM(HP:0000316), RADIOULNAR SYNOSTOSIS(HP:0002974), GAP BETWEEN FIRST AND SECOND TOES(HP:0001852), FACIAL MUSCLE WEAKNESS(HP:0010628), UPPER LIMB MUSCLE HYPOPLASIA(HP:0009016), PECTORALIS HYPOPLASIA(HP:0008998), FACIAL ASYMMETRY(HP:0000324), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), HYPOPLASIA OF THE ULNA(HP:0003022), MALROTATION OF THE KIDNEY(HP:0004712), APLASIA OF METACARPAL BONES(HP:0010048), ECTOPIC KIDNEY WITH FUSION(HP:0004736), CARPAL BONE HYPOPLASIA(HP:0001498), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOPLASTIC OPTIC DISKS(HP:0007766), ANAL ATRESIA(HP:0002023), ANAL STENOSIS(HP:0002025), LEUKOCYTOSIS(HP:0001974), SLIT-LIKE OPENINGS OF THE EXTERIOR AUDITORY MEATUS(HP:0008588), CHOANAL ATRESIA(HP:0000453), CHOANAL STENOSIS(HP:0000452), LIMITED WRIST MOVEMENT(HP:0006248), HUMERAL HYPOPLASIA(HP:0005792), SYNOSTOSIS INVOLVING THE CARPAL BONES(HP:0009702), CONGENITAL STRABISMUS(HP:0000487), RETINAL COLOBOMA(HP:0000480)]
57190	SEPN1	[JOINT CONTRACTURES(HP:0001372), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MEROSIN-POSITIVE BIOPSY(HP:0003708), GENERALIZED AMYOTROPHY(HP:0003700), HIGH-ARCHED PALATE(HP:0000156), NOCTURNAL HYPOVENTILATION(HP:0002877), MUSCLE WEAKNESS, DIFFUSE(HP:0003686), NONPROGRESSIVE OR SLOWLY PROGRESSIVE(HP:0003685), INCREASED VARIABILITY IN MUSCLE FIBER SIZE(HP:0003557), MUSCULAR HYPOTONIA(HP:0001252), AXIAL MUSCLE WEAKNESS(HP:0003327), RESTRICTIVE RESPIRATORY INSUFFICIENCY(HP:0002111), MINICORE REGIONS ARE POORLY DEFINED AND DO NOT EXTEND THROUGH ENTIRE FIBER LENGTH(HP:0003804), DYSTROPHIC CHANGES MAY BE PRESENT(HP:0003806), MOTOR RETARDATION(HP:0001270), FAILURE TO THRIVE(HP:0001508), TYPE 1 AND TYPE 2 MUSCLE FIBERS WITH 'MINICORE' REGIONS OF SARCOMERIC DISORGANIZATION, LACK OF OXIDATIVE ACTIVITY, AND ABSENT MITOCHONDRIA(HP:0003787), ONSET IN INFANCY(HP:0003576), SPINAL RIGIDITY(HP:0003306), LIMITED NECK FLEXION(HP:0005991), RESPIRATORY INSUFFICIENCY(HP:0002093), NASAL, HIGH-PITCHED VOICE(HP:0009146), DECREASED BODY HEIGHT(HP:0004322), FACIAL MUSCLE WEAKNESS(HP:0010628), REDUCED VITAL CAPACITY(HP:0002792), LOW WEIGHT(HP:0001823), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), SCOLIOSIS(HP:0002650), POOR HEAD CONTROL(HP:0002421)]
57192	MCOLN1	[FIBROUS DYSPLASIA OF THE CORNEA(HP:0007771), PROGRESSIVE RETINAL DEGENERATION(HP:0007893), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), LACK OF LANGUAGE DEVELOPMENT(HP:0006798), HYPERREFLEXIA(HP:0001347), DYSMYELINATION OF THE BRAIN(HP:0007266), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), DECREASED ELECTRORETINOGRAM (ERG)(HP:0000654), OPTIC ATROPHY(HP:0000648), CORNEAL CLOUDING(HP:0000515), CEREBELLAR ATROPHY(HP:0001272), SPASTIC TETRAPLEGIA(HP:0002510), PHOTOPHOBIA(HP:0000613), ABNORMALITY OF THE ABDOMEN(HP:0001438), DYSPLASTIC CORPUS CALLOSUM(HP:0006989), BABINSKI SIGN(HP:0003487), METABOLISM ABNORMALITY(HP:0001939), DYSTONIA(HP:0001332), MICROCEPHALY(HP:0000252), ONSET IN FIRST YEAR OF LIFE(HP:0003599), STRABISMUS(HP:0000486)]
57338	JPH3	[DELUSIONS(HP:0000746), BRADYKINESIA(HP:0002067), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ANXIETY(HP:0000739), CHOREA(HP:0002072), HALLUCINATIONS(HP:0000738), IRRITABILITY(HP:0000737), APATHY(HP:0000741), WEIGHT LOSS(HP:0001824), HYPERREFLEXIA(HP:0001347), RIGIDITY(HP:0002063), AGE OF ONSET(HP:0003674), DEPRESSION(HP:0000716), ACTION TREMOR(HP:0002345), DYSARTHRIA(HP:0001260), DYSTONIA(HP:0001332), DEMENTIA(HP:0000726)]
57379	AICDA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERACTIVITY(HP:0000752), RECURRENT UPPER AND LOWER RESPIRATORY TRACT INFECTIONS(HP:0002873), IMMUNODEFICIENCY(HP:0002721), LYMPHADENOPATHY(HP:0002716), IMPAIRED IG CLASS SWITCH RECOMBINATION (CSR)(HP:0002959), RECURRENT BACTERIAL INFECTIONS(HP:0002718), GASTROINTESTINAL INFECTIONS(HP:0004798), HYPERKINESIS(HP:0002487)]
57449	PLEKHG5	[TALIPES EQUINOVARUS(HP:0001762), CONTRACTURES(HP:0001371), RESPIRATORY INSUFFICIENCY DUE TO MUSCLE WEAKNESS(HP:0002747), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SCAPULOPERONEAL ATROPHY(HP:0003697), PROXIMAL MUSCLE WEAKNESS(HP:0003701), EMG SHOWS NEUROGENIC CHANGES AND DENERVATION(HP:0007279), LOWER MOTOR NEURON DISEASE(HP:0007276), DISTAL AMYOTROPHY(HP:0003693), DISTAL MUSCLE WEAKNESS AND ATROPHY(HP:0006940), SPINAL MUSCULAR ATROPHY(HP:0007269), RAPIDLY PROGRESSIVE(HP:0003678), ONSET IN EARLY CHILDHOOD(HP:0003580), HYPERLORDOSIS(HP:0003307), ABNORMALITY OF THE HAND(HP:0001155), WADDLING GAIT(HP:0002515), AREFLEXIA(HP:0001284), DIFFICULTY WALKING AND CLIMBING STAIRS(HP:0007019), SCOLIOSIS(HP:0002650)]
57502	NLGN4X	[MULTIFACTORIAL(HP:0001426), HETEROGENEOUS(HP:0001425), IMPAIRED LANGUAGE DEVELOPMENT(HP:0000750), INCREASED SERUM SEROTONIN(HP:0003144), X-LINKED INHERITANCE(HP:0001417), IMPAIRED USE OF NONVERBAL BEHAVIORS, SUCH AS EYE-TO-EYE GAZE, FACIAL EXPRESSION, BODY POSTURE, AND GESTURES(HP:0000758), ISOLATED CASES(HP:0001420), LACK OF PEER RELATIONSHIPS(HP:0002332), AUTISM(HP:0000717), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DERANGEMENTS OF FACIAL EXPRESSION(HP:0005324), EEG ABNORMALITIES(HP:0002353), INFLEXIBLE ADHERENCE TO ROUTINES OR RITUALS(HP:0000732), STEREOTYPED, REPETITIVE BEHAVIOUR(HP:0000733), LACK OF SPONTANEOUS PLAY(HP:0000721), ONSET BY 3 YEARS OF AGE(HP:0003586)]
57526	PCDH19	[STATUS EPILEPTICUS(HP:0002133), PSYCHOMOTOR RETARDATION(HP:0001255), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), AGGRESSIVE BEHAVIOR(HP:0000718), DEVELOPMENTAL RETARDATION(HP:0001263), PSYCHOSIS(HP:0000709), DEVELOPMENTAL REGRESSION(HP:0002376), VARIABLE SEVERITY(HP:0003814), EARLY ONSET(HP:0003593), X-LINKED INHERITANCE(HP:0001417), EPILEPSY(HP:0001275)]
57679	ALS2	[SPASTIC GAIT(HP:0002064), WEAKNESS(HP:0002309), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EARLY INVOLVEMENT OF THE CORTICOSPINAL PATHWAYS(HP:0006912), PSEUDOBULBAR BEHAVIORAL SYMPTOMS(HP:0002193), CHEWING DIFFICULTIES(HP:0005216), DISTAL AMYOTROPHY(HP:0003693), SPASTIC PARAPLEGIA, LOWER LIMB(HP:0007062), EMG SHOWS EVIDENCE OF DENERVATION(HP:0007059), HYPERREFLEXIA(HP:0001347), SLOW PROGRESSION(HP:0003677), SPASTIC DYSARTHRIA(HP:0002464), GENERALIZED MUSCLE WEAKNESS(HP:0003324), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), MOTOR RETARDATION(HP:0001270), SPASTICITY OF FACIAL MUSCLES(HP:0002491), EXCESSIVE SALIVATION(HP:0003781), ONSET IN EARLY CHILDHOOD(HP:0003580), ONSET IN INFANCY(HP:0003576), DIFFICULTY IN TONGUE MOVEMENTS(HP:0000183), LOWER MOTOR NEURON SIGNS(HP:0002366), SPASTIC TETRAPLEGIA(HP:0002510), SACCADIC SMOOTH PURSUIT(HP:0001152), AMYOTROPHIC LATERAL SCLEROSIS(HP:0007354), SPASTICITY OF PHARYNGEAL MUSCLES(HP:0002501), AMYOTROPHY INVOLVING THE MUSCULATURE OF THE HAND(HP:0009130), JUVENILE ONSET(HP:0003621), UPPER MOTOR NEURON ABNORMALITY(HP:0002127), CEREBRAL CORTICAL ATROPHY(HP:0002120), BABINSKI SIGN(HP:0003487), SPASTIC TETRAPARESIS(HP:0001285), SHORTENING OF THE ACHILLES TENDON(HP:0004711), SCOLIOSIS(HP:0002650), PALLOR(HP:0000980), ONSET IN ADOLESCENCE(HP:0003590), ANARTHRIA(HP:0002425)]
57716	PRX	[KYPHOSCOLIOSIS(HP:0002751), PES CAVUS(HP:0001761), HAMMER TOES(HP:0001765), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VARIABLE SEVERITY(HP:0003814), DISTAL AMYOTROPHY(HP:0003693), MUSCULAR HYPOTONIA(HP:0001252), SEGMENTAL DEMYELINATION/REMYELINATION ON NERVE BIOPSY(HP:0003425), MOTOR RETARDATION(HP:0001270), HYPOREFLEXIA(HP:0001265), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), HETEROGENEOUS(HP:0001425), SEGMENTAL DEMYELINATION(HP:0007107), INCREASED CSF PROTEIN(HP:0002922), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), CLAW HAND DEFORMITIES (IN SEVERE CASES)(HP:0001178), AREFLEXIA(HP:0001284), SEVERELY DECREASED MOTOR NERVE CONDUCTION VELOCITY(HP:0006907), FOOT DROP(HP:0003377), 'STEPPAGE' GAIT(HP:0003376), DECREASED NUMBER OF MYELINATED FIBERS(HP:0003380), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383), HYPERTROPHIC NERVE CHANGES(HP:0003382)]
59341	TRPV4	[DELAYED SKELETAL MATURATION(HP:0002750), KYPHOSCOLIOSIS(HP:0002751), DISPROPORTIONATE SHORT STATURE (SHORT TRUNK), IDENTIFIABLE IN CHILDHOOD(HP:0003522), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROGRESSIVE DISTAL MUSCLE WEAKNESS AND ATROPHY(HP:0009057), PHENOTYPIC VARIABILITY(HP:0003812), RESPIRATORY FAILURE DUE TO INTERCOSTAL MUSCLE AND DIAPHRAGM INVOLVEMENT(HP:0004878), SPINAL CORD COMPRESSION(HP:0002176), ABNORMALITY OF THE FACE(HP:0000271), GENERALIZED MUSCLE WEAKNESS(HP:0003324), ABNORMAL METAPHYSEAL VASCULAR INVASION(HP:0003562), PECTUS CARINATUM(HP:0000768), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), HOARSE VOICE DUE TO VOCAL CORD PARESIS(HP:0001616), HYPERMETROPIA(HP:0000540), DUMBBELL-SHAPED METAPHYSES(HP:0002810), COXA VARA(HP:0002812), AREFLEXIA(HP:0001284), SHORT-TRUNKED DWARFISM(HP:0003500), SHORT FEMORAL NECK(HP:0003032), RELATIVELY SHORT SPINE(HP:0002766), SLOPING SHOULDERS(HP:0001556), SHOULDER GIRDLE MUSCLE ATROPHY(HP:0003724), BARREL-SHAPED CHEST(HP:0001552), PES CAVUS(HP:0001761), WEAKNESS(HP:0002309), DWARFISM RECOGNIZABLE AT BIRTH(HP:0008930), CARPAL BONE HYPOPLASIA(HP:0001498), NEUROGENIC SCAPULOPERONEAL AMYOTROPHY(HP:0006920), OBSTRUCTIVE SLEEP APNEA(HP:0002870), PROGRESSIVE SCAPULOPERONEAL ATROPHY(HP:0008957), DISTAL AMYOTROPHY(HP:0003693), ANISOSPONDYLY(HP:0002879), IRREGULAR PROXIMAL FEMORAL METAPHYSES(HP:0003411), HYPERPLASTIC FEMORAL TROCHANTERS(HP:0002822), PLATYSPONDYLY(HP:0000926), SHORT TRUNK(HP:0001524), LONG COCCYX(HP:0002831), HALBERD-SHAPED PELVIS(HP:0002826), IRREGULAR, RACHITIC-LIKE METAPHYSES(HP:0005042), CAUDAL APPENDAGE(HP:0002825), FLARED FEMURS AND HUMERI(HP:0002834), HYPOREFLEXIA(HP:0001265), ARREST OF ENDOCHONDRAL RING STRUCTURES WITH PERSISTENCE OF CIRCUMFERENTIAL GROWTH(HP:0003336), DECREASED OR ABSENT DISTAL SENSORY NERVE ACTION POTENTIAL(HP:0007230), CLINODACTYLY OF HANDS(HP:0001157), SHORT NECK(HP:0000470), A THIN SEAL OF BONE AT THE CHONDROOSSEOUS JUNCTION(HP:0003331), GENERALIZED AMYOPLASIA(HP:0003634), ABSENT PRIMARY METAPHYSEAL SPONGIOSA(HP:0003332), AMYOTROPHY INVOLVING THE MUSCULATURE OF THE HAND(HP:0009130), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL SENSORY IMPAIRMENT(HP:0002936), VARIABLE AGE AT ONSET(HP:0003618), SEVERE CARPAL OSSIFICATION DELAY(HP:0006069), FLAT, IRREGULAR ACETABULA(HP:0008832), EARLY ONSET(HP:0003593), FOOT DROP(HP:0003377)]
59344	ALOXE3	[MENTAL RETARDATION(HP:0001249), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA(HP:0007431), GROWTH RETARDATION(HP:0001510), HAIR ABNORMALITY(HP:0001595), GENITAL HYPOPLASIA(HP:0003241), CONGENITAL NONBULLOUS ICHTHYOSIFORM ERYTHRODERMA(HP:0007479)]
60506	NYX	[MYOPIA(HP:0000545), X-LINKED INHERITANCE(HP:0001417), COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS(HP:0007953)]
60529	ALX4	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), APLASIA CUTIS CONGENITA OF SCALP(HP:0007385), ENCEPHALOCELE(HP:0002084), SYMMETRICAL, OVAL PARIETAL BONE DEFECTS(HP:0002695), PARIETAL BOSSING(HP:0000242)]
60675	PROK2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ISOLATED HYPOGONADOTROPIC HYPOGONADISM(HP:0008224), PRIMARY AMENORRHEA(HP:0000786), DECREASED TESTICULAR SIZE(HP:0008734)]
64072	CDH23	[DEAFNESS, PRELINGUAL, PROFOUND (AFFECTS ALL FREQUENCIES)(HP:0001731), RETINITIS PIGMENTOSA(HP:0000510), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), VESTIBULAR DYSFUNCTION(HP:0001751)]
64087	MCCC2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PROPIONYL-COA CARBOXYLASE DEFICIENCY(HP:0003353), SEBORRHEIC DERMATITIS(HP:0001051), AMYOTROPHY(HP:0003202), ALOPECIA(HP:0001596), MUSCULAR HYPOTONIA(HP:0001252), KETOACIDOSIS(HP:0001993), ORGANIC ACIDURIA(HP:0001992)]
64127	NOD2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CAMPTODACTYLY (HANDS)(HP:0010563), NONGRANULOMATOUS UVEITIS(HP:0007813), FLEXION CONTRACTURES OF FINGERS AND TOES(HP:0005651), INTERMITTENT GENERALIZED ERYTHEMATOUS PAPULAR RASH(HP:0007432), METABOLISM ABNORMALITY(HP:0001939), NEUROLOGICAL ABNORMALITY(HP:0000707), ABNORMALITY OF THE EARS(HP:0000598)]
64170	CARD9	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE SKIN(HP:0000951), ABNORMALITY OF THE NAILS(HP:0001597), HEMATOLOGICAL ABNORMALITY(HP:0001871), CHRONIC ORAL CANDIDIASIS(HP:0009098)]
64175	LEPRE1	[RADIAL BOWING(HP:0002986), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FEMORAL BOWING(HP:0002980), TIBIAL BOWING(HP:0002982), INGUINAL HERNIA(HP:0000023), WIDE ANTERIOR FONTANEL(HP:0000260), OPEN SUTURES(HP:0003794), VERTEBRAL COMPRESSION FRACTURES(HP:0002953), ROUND FACE(HP:0000311), PROPTOSIS(HP:0000520), JOINT LAXITY(HP:0001388), EXTERNALLY ROTATED/ABDUCTED LEGS(HP:0003783), TYPE 1 COLLAGEN OVERMODIFICATION(HP:0003784), KYPHOSIS(HP:0002808), THIN RIBS(HP:0000883), THIN, GRACILE LONG BONES(HP:0003060), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), SHORT STATURE, DISPROPORTIONATE(HP:0003498), SHORT LIMB DWARFISM(HP:0003505), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), RECURRENT FRACTURES(HP:0002757), MULTIPLE PRENATAL FRACTURES(HP:0005855), PLATYSPONDYLY(HP:0000926), DEVELOPMENTAL RETARDATION(HP:0001263), ABNORMALITY OF THE TEETH(HP:0000164), DECREASED SKULL OSSIFICATION(HP:0004331), WORMIAN BONES(HP:0002645), SCOLIOSIS(HP:0002650)]
64220	STRA6	[PULMONIC STENOSIS(HP:0001642), PATENT DUCTUS ARTERIOSUS(HP:0001643), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TETRALOGY OF FALLOT(HP:0001636), MENTAL RETARDATION, PROFOUND(HP:0002187), INGUINAL HERNIA(HP:0000023), PERSISTANT TRUNCUS ARTERIOSUS(HP:0001660), CRYPTORCHIDISM(HP:0000028), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), BILATERAL MICROPHTHALMOS(HP:0007633), PULMONARY AGENESIS, USUALLY BILATERAL(HP:0006550), DIAPHRAGMATIC HERNIA(HP:0000776), HYPOPLASTIC LEFT ATRIUM(HP:0005156), HORSESHOE KIDNEY(HP:0000085), HAIR ABNORMALITY(HP:0001595), PULMONARY ARTERY ATRESIA(HP:0004935), RENAL HYPOPLASIA(HP:0000089), LOW-SET EARS(HP:0000369), BLEPHAROPHIMOSIS(HP:0000581), MALROTATION OF THE KIDNEY(HP:0004712), HYPOPLASTIC, BICORNUATE UTERUS(HP:0008735), HYDRONEPHROSIS(HP:0000126), PELVIC KIDNEY(HP:0000125), ANOPHTHALMIA, CLINICAL(HP:0001485), MUSCULAR HYPOTONIA(HP:0001252), INTRAUTERINE GROWTH RETARDATION(HP:0001511), INTESTINAL MALROTATION(HP:0002566), SINGLE VENTRICLE(HP:0001750), BROAD NASAL BRIDGE(HP:0000431), PULMONARY HYPOPLASIA(HP:0002089), RESPIRATORY INSUFFICIENCY(HP:0002093), HYPOPLASTIC SPLEEN(HP:0006270), DECREASED BODY HEIGHT(HP:0004322), AGENESIS OF PULMONARY VESSELS(HP:0005311), MICROGNATHIA(HP:0000210), DIAPHRAGMATIC EVENTRATION(HP:0009110), RIGHT AORTIC ARCH(HP:0002627), COARCTATION OF AORTA(HP:0001680)]
64221	ROBO3	[PROGRESSIVE OPHTHALMOPLEGIA(HP:0007650), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), THORACOLUMBAR SCOLIOSIS(HP:0002944)]
64240	ABCG5	[ARTHRITIS(HP:0001369), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTEGUMENT ABNORMALITY(HP:0001574), EPISODIC HEMOLYTIC ANEMIA(HP:0004802), CHRONIC HEMOLYTIC ANEMIA(HP:0004870), CORONARY ATHEROSCLEROSIS(HP:0004929), HYPERAPOBETALIPOPROTEINEMIA(HP:0008158), ABNORMALITY OF THROMBOCYTES(HP:0001872), ABNORMALITY OF THE LIVER(HP:0001392), HYPERCHOLESTEROLEMIA(HP:0003124), SPLENOMEGALY(HP:0001744)]
64241	ABCG8	[ARTHRITIS(HP:0001369), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTEGUMENT ABNORMALITY(HP:0001574), EPISODIC HEMOLYTIC ANEMIA(HP:0004802), CHRONIC HEMOLYTIC ANEMIA(HP:0004870), CORONARY ATHEROSCLEROSIS(HP:0004929), HYPERAPOBETALIPOPROTEINEMIA(HP:0008158), ABNORMALITY OF THROMBOCYTES(HP:0001872), ABNORMALITY OF THE LIVER(HP:0001392), HYPERCHOLESTEROLEMIA(HP:0003124), SPLENOMEGALY(HP:0001744)]
64324	NSD1	[PATENT DUCTUS ARTERIOSUS(HP:0001643), CARDIOMEGALY(HP:0001640), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CARDIOMYOPATHY(HP:0001638), INGUINAL HERNIA(HP:0000023), CRYPTORCHIDISM(HP:0000028), HYDROCELE(HP:0000034), ABNORMALITY OF THE VOICE(HP:0001608), THIN HAIR(HP:0002237), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), HYPERMETROPIA(HP:0000540), ADRENOCORTICAL CYTOMEGALY(HP:0008186), SPARSE HAIR(HP:0008070), KYPHOSIS(HP:0002808), NYSTAGMUS(HP:0000639), HEPATOMEGALY(HP:0002240), DIASTASIS RECTI(HP:0001540), UMBILICAL HERNIA(HP:0001537), ENLARGED KIDNEYS(HP:0000105), OMPHALOCELE(HP:0001539), ENLARGED CISTERNA MAGNA(HP:0002280), OVERGROWTH OF EXTERNAL GENITALIA(HP:0003247), PES PLANUS(HP:0001763), TALIPES EQUINOVARUS(HP:0001762), PES CAVUS(HP:0001761), ACCELERATED SKELETAL MATURATION(HP:0005616), HIGH-ARCHED PALATE(HP:0000156), MACROGLOSSIA(HP:0000158), GONADOBLASTOMA(HP:0000150), LATERAL VENTRICLE DILATATION(HP:0006945), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), ONSET BEFORE AGE 2 YEARS(HP:0003667), DYSARTHRIA(HP:0001260), INVERTED NIPPLES(HP:0003186), HYPERTONIA(HP:0001276), SMALL ILIAC WINGS(HP:0003169), COXA VALGA(HP:0002673), CLINODACTYLY OF HANDS(HP:0001157), SPEECH DELAY(HP:0002117), LARGE HANDS(HP:0001176), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), LARGE FONTANELLES(HP:0000239), SCOLIOSIS(HP:0002650), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), PROMINENT FINGERTIP PADS(HP:0001212), RETROGNATHIA(HP:0000278), COARSE FACIAL FEATURES(HP:0000280), EPICANTHUS(HP:0000286), MACROCEPHALY(HP:0000256), SLURRED SPEECH(HP:0001350), HYPERREFLEXIA(HP:0001347), DOLICHOCEPHALY(HP:0000268), PROMINENT OCCIPUT(HP:0000269), POINTED CHIN(HP:0000307), EXPRESSIVE LANGUAGE DELAY(HP:0002474), ROUND FACE(HP:0000311), PREMATURE ERUPTION OF TEETH(HP:0006288), HYPERTELORISM(HP:0000316), PROMINENT CHIN WITH CENTRAL DIMPLE(HP:0004648), JOINT LAXITY(HP:0001388), SHORT RIBS(HP:0000773), LIMITED ELBOW EXTENSION(HP:0001377), PANCREATIC HYPERPLASIA(HP:0006277), LONG PHILTRUM(HP:0000343), CALCANEOVALGUS DEFORMITIES(HP:0001848), OVERRIDING TOES(HP:0001845), METATARSUS VARUS(HP:0001840), SHORT FOURTH METATARSALS(HP:0004689), LIMITED KNEE EXTENSION(HP:0003066), LARGE FEET(HP:0001833), PARTIAL AGENESIS OF THE CORPUS CALLOSUM(HP:0001338), THIN, DEEP-SET NAILS(HP:0001814), ABSENT SEPTUM PELLUCIDUM(HP:0001331), PERSISTENT CAVUM SEPTUM PELLUCIDUM(HP:0006884), NEONATAL HYPOTONIA(HP:0001319), CAMPTODACTYLY (HANDS)(HP:0010563), LARGE EARS(HP:0000400), FLARED IRREGULAR METAPHYSES(HP:0000945), GENU VALGUM(HP:0002857), DISHARMONIC MATURATION OF PHALANGES AND CARPAL BONES(HP:0006204), HEARING LOSS, CONDUCTIVE(HP:0000405), OTITIS MEDIA(HP:0000388), BROAD PHALANGES OF THE THUMB(HP:0009651), FRONTAL BOSSING(HP:0002007), HEMIHYPERTROPHY(HP:0001528), FLATTENED NASAL BRIDGE(HP:0000425), DISHARMONIOUS CARPAL BONE(HP:0006153), NEONATAL HYPOGLYCEMIA(HP:0001998), POOR COORDINATION(HP:0002370), VARIABLE MENTAL RETARDATION(HP:0002382), ISOLATED CASES(HP:0001420), FAMILIAL ACUTE MYELOGENOUS LEUKEMIA(HP:0004843), HEPATOBLASTOMA(HP:0002884), ADRENAL CARCINOMA(HP:0002889), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), CUTIS LAXA(HP:0000973), STRABISMUS(HP:0000486)]
64327	LMBR1	[SEPARATE TRIPHALANGEAL THUMB(HP:0006194), FIBULAR APLASIA(HP:0002990), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), 6 METACARPALS(HP:0001501), 1-5 FINGER COMPLETE CUTANEOUS SYNDACTYLY(HP:0006088), HYPOPLASTIC/SMALL THUMB(HP:0009778), HYPOPLASTIC TIBIA(HP:0005736), OPPOSABLE TRIPHALANGEAL THUMBS(HP:0005866), ABSENT CARPAL BONES/ABSENT OSSIFICATION OF THE CARPAL BONES(HP:0004231), ABSENT HANDS(HP:0004050), PRE- OR POSTAXIAL POLYDACTYLY(HP:0006046), PEROMELIA(HP:0009828), APLASIA OF THE TARSAL BONES(HP:0010509), ABSENT FOREARM(HP:0005632), ABNORMALITY OF THE NAILS(HP:0001597), 2-3 TOE SYNDACTYLY(HP:0004691), APLASIA/HYPOPLASIA OF METATARSAL BONES(HP:0001964), POSTAXIAL POLYDACTYLY (FEET)(HP:0001830), APLASIA OF THE PHALANGES OF THE HAND(HP:0009802), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974), HUMERAL HYPOPLASIA(HP:0005792), ABSENT OSSIFICATION/ABSENT ULNA(HP:0003982), PARTIAL/COMPLETE DUPLICATION OF THE PHALANGES OF THE HALLUX(HP:0010066), PARTIAL/COMPLETE DUPLICATION OF PHALANGES OF THE THUMB(HP:0009942), APLASIA OF METACARPAL BONES(HP:0010048)]
64374	SIL1	[PES PLANUS(HP:0001763), CONTRACTURES(HP:0001371), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MASSIVE CEREBELLAR CORTICAL ATROPHY WITH VACUOLATED OR BINUCLEATED PURKINJE CELLS(HP:0008278), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), MYOPATHY(HP:0003198), CEREBELLAR ATAXIA(HP:0001253), MUSCULAR HYPOTONIA(HP:0001252), CONGENITAL CATARACT(HP:0000519), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), MUSCLE WEAKNESS, PROGRESSIVE(HP:0003323), SPASTICITY(HP:0001257), MYOPATHIC CHANGES ON MUSCLE BIOPSY(HP:0003569), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), CUBITUS VALGUS(HP:0002967), COXA VALGA(HP:0002673), KYPHOSIS(HP:0002808), DECREASED BODY HEIGHT(HP:0004322), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), CEREBRAL CORTICAL ATROPHY(HP:0002120), INCREASED CREATINE KINASE(HP:0003078), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), STRABISMUS(HP:0000486)]
64421	DCLRE1C	[INCREASED FREQUENCY OF BACTERIAL, VIRAL, AND FUNGAL INFECTIONS(HP:0005350), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABSENT B CELLS(HP:0002856), SMALL LYMPH NODES(HP:0002732), ORAL ULCERS(HP:0000155), ANEMIA(HP:0001903), PANHYPOGAMMAGLOBULINEMIA(HP:0003139), OTITIS MEDIA(HP:0000388), LYMPHADENOPATHY(HP:0002716), EOSINOPHILIA(HP:0001880), THROMBOCYTOPENIA(HP:0001873), ABNORMALITY OF THE NASOPHARYNX(HP:0001739), DIARRHEA(HP:0002014), SPLENOMEGALY(HP:0001744), FAILURE TO THRIVE(HP:0001508), PNEUMONIA(HP:0002090), THYMUS HYPOPLASIA(HP:0000778), ERYTHRODERMA(HP:0001019), ALOPECIA(HP:0001596), HYPOPROTEINEMIA(HP:0003075), HEPATOMEGALY(HP:0002240), RECURRENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0002788), GENITAL ULCERS(HP:0003249), SEVERE COMBINED IMMUNODEFICIENCY(HP:0004430)]
64699	TMPRSS3	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), ONSET IN CHILDHOOD(HP:0003578)]
64788	LMF1	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
64805	P2RY12	[HYPOKINESIA(HP:0002375), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PLATELETS SHOW IMPAIRED AGGREGATION IN RESPONSE TO ADP(HP:0004866), BLEEDING DIATHESIS(HP:0001892), ECCHYMOSES(HP:0000978), EPISTAXIS(HP:0000421)]
64840	PORCN	[CHORIORETINAL COLOBOMA(HP:0000567), INGUINAL HERNIA(HP:0000023), CRYPTORCHIDISM(HP:0000028), MICROPHTHALMOS(HP:0000568), PATCHY ALOPECIA(HP:0002232), ABNORMALITY OF THE LARYNX(HP:0001600), ANIRIDIA(HP:0000526), ANOPHTHALMIA(HP:0000528), SPINA BIFIDA OCCULTA(HP:0003298), HYPOPLASTIC CLITORIS(HP:0000060), SPARSE HAIR(HP:0008070), MIDCLAVICULAR APLASIA(HP:0006638), LABIAL HYPOPLASIA(HP:0000066), IRIS COLOBOMA(HP:0000612), URETERAL DUPLICATION(HP:0000073), HORSESHOE KIDNEY(HP:0000085), NYSTAGMUS(HP:0000639), HYPOPLASTIC/SMALL PHALANGES OF THE HAND(HP:0009803), ANTERIORLY PLACED ANUS(HP:0001545), DIASTASIS RECTI(HP:0001540), UMBILICAL HERNIA(HP:0001537), OMPHALOCELE(HP:0001539), ECTOPIA LENTIS(HP:0001083), HYDRONEPHROSIS(HP:0000126), MIDCLAVICULAR HYPOPLASIA(HP:0006608), DELAYED DENTITION(HP:0000684), TOE SYNDACTYLY(HP:0001770), OLIGODONTIA(HP:0000677), LINEAR OR RETICULAR HYPERPIGMENTATION(HP:0007546), DENTAL MALOCCLUSION(HP:0000689), CLEFT PALATE(HP:0000175), HYPOPLASTIC/SMALL FINGERS(HP:0009381), OPTIC ATROPHY(HP:0000648), MENTAL RETARDATION(HP:0001249), NOTCHED NASAL ALAE(HP:0003191), HYPODONTIA(HP:0000668), INTESTINAL MALROTATION(HP:0002566), AGENESIS OF CORPUS CALLOSUM(HP:0001274), CLEFT LIP(HP:0000204), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), ECTRODACTYLY (HANDS)(HP:0001171), OLIGODACTYLY (HANDS)(HP:0001180), HYDROCEPHALUS(HP:0000238), NAIL DYSPLASIA(HP:0002164), SCOLIOSIS(HP:0002650), CONGENITAL HIP DISLOCATION(HP:0001374), MICROCEPHALY, MILD(HP:0001366), ABNORMALITY OF HAIR TEXTURE(HP:0010719), HYPOPLASTIC DENTAL ENAMEL(HP:0006297), POINTED CHIN(HP:0000307), JOINT LAXITY(HP:0001388), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), DIAPHRAGMATIC HERNIA(HP:0000776), OLIGODACTYLY (FEET)(HP:0001849), FACIAL ASYMMETRY(HP:0000324), ECTRODACTYLY (FEET)(HP:0001839), POLYDACTYLY (FEET)(HP:0001829), LOW-SET EARS(HP:0000369), ABSENT FINGERNAILS(HP:0001817), SUPERNUMERARY NIPPLES(HP:0002558), ABSENT TOENAILS(HP:0001802), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), MIXED HEARING LOSS(HP:0000410), HIATUS HERNIA(HP:0002036), ARNOLD-CHIARI MALFORMATION(HP:0002308), STENOTIC EXTERNAL AUDITORY CANAL(HP:0000402), NARROW NASAL BRIDGE(HP:0000446), HYPOPLASTIC RIBS(HP:0000908), DERMAL ATROPHY(HP:0004334), TELANGIECTASIA(HP:0001009), DECREASED BODY HEIGHT(HP:0004322), BROAD NASAL TIP(HP:0000455), X-LINKED DOMINANT INHERITANCE(HP:0001423), STRABISMUS(HP:0000486)]
65018	PINK1	[BRADYKINESIA(HP:0002067), PSYCHIATRIC DISORDERS(HP:0002368), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANXIETY(HP:0000739), URINARY URGENCY(HP:0000012), PARKINSONISM(HP:0001300), RESTING TREMOR(HP:0002322), HYPERREFLEXIA(HP:0001347), RIGIDITY(HP:0002063), SLOW PROGRESSION(HP:0003677), DEPRESSION(HP:0000716), POSTURAL INSTABILITY(HP:0002172), DYSTONIA(HP:0001332), EARLY ONSET(HP:0003593), DEMENTIA(HP:0000726)]
65109	UPF3B	[ABNORMALITY OF THE FEET(HP:0001760), MENTAL RETARDATION, MILD TO SEVERE(HP:0002458), MACROCEPHALY(HP:0000256), PROMINENT JAW(HP:0002051), HIGH-ARCHED PALATE(HP:0000156), HIGH NASAL BRIDGE(HP:0000442), FRONTAL BOSSING(HP:0002007), HYPERNASAL SPEECH(HP:0001614), NARROW CHEST(HP:0000774), GROWTH ABNORMALITY(HP:0001507), PECTUS CARINATUM(HP:0000768), KYPHOSIS(HP:0002808), ARACHNODACTYLY(HP:0001166), HYPOPLASIA OF THE MAXILLA(HP:0000327), PECTUS EXCAVATUM(HP:0000767), X-LINKED RECESSIVE INHERITANCE(HP:0001419), LONG, THIN FACE(HP:0000334), ABNORMALITY OF MUSCULATURE(HP:0003011), SCOLIOSIS(HP:0002650), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
65125	WNK1	[ABNORMALITY OF THE EYES(HP:0000478), NEUROPATHY(HP:0003407), HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), OSTEOLYTIC DEFECTS OF THE PHALANGES OF THE HAND(HP:0009771), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ACROOSTEOLYSIS (FEET)(HP:0001842), LIMB PAIN(HP:0009763), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), SECONDARY HYPERKALEMIC PERIODIC PARALYSIS(HP:0007215), GASTROESOPHAGEAL REFLUX(HP:0002020), PAINLESS FRACTURES DUE TO INJURY(HP:0002661), FEEDING DIFFICULTIES(HP:0002022), LOWER LIMBS MORE AFFECTED THAN UPPER LIMBS(HP:0003483), AREFLEXIA(HP:0001284), MUSCULAR HYPOTONIA(HP:0001252), PSEUDOHYPOALDOSTERONISM TYPE II(HP:0008228), SLOW PROGRESSION(HP:0003677), PARONYCHIA(HP:0001818), HYPERHIDROSIS, EPISODIC(HP:0001069), DECREASED TASTE SENSATION(HP:0000224), ANHIDROSIS(HP:0000970), DECREASED SENSORY NERVE CONDUCTION VELOCITIES (NCV)(HP:0003448), HYPOREFLEXIA(HP:0001265), HYPERCHLOREMIC ACIDOSIS(HP:0001995), SURAL NERVE BIOPSY SHOWS SEVERE LOSS OF MYELINATED FIBERS(HP:0007093), ACRAL ULCERATION LEADING TO AUTOAMPUTATION OF DIGITS(HP:0006121), HYPERKALEMIA(HP:0002153), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579)]
65217	PCDH15	[DELAYED MOTOR MILESTONES(HP:0002130), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), PRELINGUAL ONSET(HP:0003631), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), HEARING LOSS, PROFOUND CONGENITAL SENSORINEURAL(HP:0008521), RETINITIS PIGMENTOSA(HP:0000510), VESTIBULAR DYSFUNCTION(HP:0001751)]
65266	WNK4	[HYPERTENSION(HP:0000822), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SECONDARY HYPERKALEMIC PERIODIC PARALYSIS(HP:0007215), METABOLIC ACIDOSIS(HP:0001942), PSEUDOHYPOALDOSTERONISM TYPE II(HP:0008228), LOW PLASMA RENIN ACTIVITY(HP:0003263), HYPERCHLOREMIC ACIDOSIS(HP:0001995), HYPERKALEMIA(HP:0002153)]
78987	CRELD1	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCOMPLETE PENETRANCE(HP:0003829), AORTA ARISES FROM RIGHT VENTRICLE(HP:0005298), PULMONARY ARTERY ATRESIA(HP:0004935), DEXTROCARDIA(HP:0001651), ATRIOVENTRICULAR SEPTAL DEFECT(HP:0010439), RIGHT AORTIC ARCH(HP:0002627)]
79001	VKORC1	[HEMATOLOGICAL ABNORMALITY(HP:0001871), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
79083	MLPH	[ABNORMALITY OF THE EYES(HP:0000478), HETEROGENEOUS(HP:0001425), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SILVER-GRAY HAIR(HP:0002218), LARGE CLUMPS OF PIGMENT IRREGULARLY DISTRIBUTED ALONG HAIR SHAFT(HP:0004527), IMMUNODEFICIENCY(HP:0002721)]
79133	C20orf7	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BLINDNESS(HP:0000618), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), MUSCLE WEAKNESS(HP:0001324), HEARING LOSS, SENSORINEURAL(HP:0000407), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LEUKODYSTROPHY(HP:0002415), STRABISMUS(HP:0000486)]
79147	FKRP	[MALAR HYPOPLASIA(HP:0000272), RETINAL DEGENERATION(HP:0000546), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL MALFORMATION(HP:0007901), MENTAL RETARDATION, PROFOUND(HP:0002187), EXCESSIVE DAYTIME SLEEPINESS(HP:0002189), VARIABLE SEVERITY(HP:0003814), DIFFICULTY CLIMBING STAIRS(HP:0003551), LIMB-GIRDLE MUSCULAR DYSTROPHY(HP:0006785), SHOULDER GIRDLE MUSCLE WEAKNESS(HP:0003547), MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES(HP:0003544), MICROPHTHALMOS(HP:0000568), MUSCULAR DYSTROPHY, CONGENITAL(HP:0003793), CATARACT(HP:0000518), MYALGIA(HP:0003326), GENERALIZED MUSCLE WEAKNESS(HP:0003324), VERTEBRAL FUSION(HP:0002948), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), DECREASED OR ABSENT ELECTRORETINOGRAM(HP:0007636), DETACHED RETINA(HP:0000541), ONSET AT BIRTH(HP:0003577), IMPAIRED LEFT VENTRICULAR FUNCTION(HP:0005162), KYPHOSIS(HP:0002808), DANDY-WALKER MALFORMATION(HP:0001305), OPTIC NERVE HYPOPLASIA(HP:0000609), CONGENITAL CONTRACTURES(HP:0002803), ABNORMALITY OF THE GENITAL TRACT(HP:0000078), ABNORMALITY OF THE CEREBRAL WHITE MATTER(HP:0002500), DILATED CARDIOMYOPATHY MAY BE PRESENT(HP:0005159), FACIAL MUSCLE WEAKNESS(HP:0010628), PACHYGYRIA(HP:0001302), GENERALIZED HYPOTONIA(HP:0001290), PELVIC GIRDLE MUSCLE WEAKNESS(HP:0003749), MILD MICROGNATHIA(HP:0000330), NYSTAGMUS(HP:0000639), WADDLING GAIT(HP:0002515), THIGH HYPERTROPHY(HP:0003733), MYOCLONUS(HP:0001336), RENAL DYSPLASIA(HP:0000110), CONGENITAL MUSCULAR DYSTROPHY(HP:0003741), COLOBOMA(HP:0000589), THICK CEREBRAL CORTEX(HP:0006891), CEREBELLAR HYPOPLASIA(HP:0001321), MENINGOENCEPHALOCELE(HP:0006888), SHOULDER GIRDLE MUSCLE ATROPHY(HP:0003724), NEONATAL HYPOTONIA(HP:0001319), RETINAL HYPOPLASIA(HP:0007770), EXTERNAL AUDITORY CANAL ATRESIA(HP:0000413), MYOPIA, CONGENITAL(HP:0008012), ACHILLES TENDON CONTRACTURES(HP:0001771), MUSCLE CRAMPS(HP:0003394), CALF HYPERTROPHY(HP:0003703), PROXIMAL MUSCLE WEAKNESS(HP:0003701), HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079), MICROTIA(HP:0000393), MACROGLOSSIA(HP:0000158), ANAL ATRESIA(HP:0002023), FEEDING DIFFICULTIES(HP:0002022), NOCTURNAL HYPOVENTILATION(HP:0002877), TYPE II LISSENCEPHALY(HP:0007260), HIGH FLASH VISUAL EVOKED POTENTIALS(HP:0008045), SEIZURES(HP:0001250), SHORT NASAL BRIDGE(HP:0003194), OPTIC ATROPHY(HP:0000648), DEVELOPMENTAL RETARDATION(HP:0001263), RESTRICTIVE RESPIRATORY INSUFFICIENCY(HP:0002111), SPASTICITY(HP:0001257), EEG ABNORMALITIES(HP:0002353), DIFFICULTY WALKING(HP:0002355), FREQUENT FALLS(HP:0002359), OCCIPITAL ENCEPHALOCELE(HP:0002085), AGENESIS OF CORPUS CALLOSUM(HP:0001274), CEREBELLAR ATROPHY(HP:0001272), PETERS ANOMALY(HP:0000659), CLEFT LIP(HP:0000204), DELAYED MOTOR MILESTONES(HP:0002130), ANTERIOR CHAMBER MALFORMATION(HP:0007699), VENTRICULOMEGALY(HP:0002119), LORDOSIS(HP:0002939), INCREASED CREATINE KINASE(HP:0003078), HYDROCEPHALUS(HP:0000238), UNCONTROLLED EYE MOVEMENTS(HP:0007738), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), EVERTED LOWER LIP(HP:0000232), RETINAL DYSPLASIA(HP:0007973), GLAUCOMA(HP:0000501), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), INCREASED SERUM CREATINE KINASE(HP:0002147), MEGALOCORNEA(HP:0000485)]
79158	GNPTAB	[CARDIOMEGALY(HP:0001640), BULLET-SHAPED PHALANGES OF THE HAND(HP:0009769), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCREASED CORNEAL DIAMETER(HP:0007660), CORNEAL OPACITIES ON SLIT-LAMP EXAM(HP:0007896), CONGESTIVE HEART FAILURE(HP:0001635), MILDLY COARSE FACIES(HP:0000281), CRANIOSYNOSTOSIS(HP:0001363), MYELOPATHY(HP:0002196), EPICANTHUS(HP:0000286), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), AORTIC INSUFFICIENCY(HP:0001659), DEFICIENCY OF N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE(HP:0003264), INGUINAL HERNIA(HP:0000023), DEATH IN CHILDHOOD(HP:0003819), HOARSE VOICE(HP:0001609), INCREASED SERUM BETA-HEXOSAMINIDASE(HP:0008299), OVOID VERTEBRAL BODIES(HP:0003300), HYPOPLASTIC ODONTOID PROCESS(HP:0003311), MANDIBULAR PROGNATHIA(HP:0000303), LONG PHILTRUM(HP:0000343), HYPOPLASTIC SCAPULAE(HP:0000882), HIGH, NARROW FOREHEAD(HP:0004674), NARROWNESS OF INTERPEDICULATE DISTANCES IN LOWER THORACIC REGIONS(HP:0008470), PUFFY EYELIDS(HP:0000626), CAVERNOUS HEMANGIOMA(HP:0001048), RECURRENT BRONCHITIS(HP:0002785), HEPATOMEGALY(HP:0002240), METAPHYSEAL WIDENING(HP:0003016), VARUS DEFORMITY OF HUMERAL NECK(HP:0006362), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), DIASTASIS RECTI(HP:0001540), LEARNING DISABILITY(HP:0001328), UMBILICAL HERNIA(HP:0001537), PROTUBERANT ABDOMEN(HP:0001538), THIN EYEBROWS(HP:0002554), SHORT LONG BONES(HP:0003026), WIDE INTERMAMILLARY DISTANCE(HP:0006610), PATHOLOGIC FRACTURE(HP:0002756), NEONATAL HYPOTONIA(HP:0001319), TALIPES EQUINOVARUS(HP:0001762), RECURRENT OTITIS MEDIA(HP:0000403), FLARED ILIAC WINGS(HP:0002869), THORACOLUMBAR KYPHOSCOLIOSIS(HP:0003423), DYSOSTOSIS MULTIPLEX(HP:0000943), MACROGLOSSIA(HP:0000158), ATLANTOAXIAL DISLOCATION(HP:0003414), SOFT TISSUE SWELLING OF INTERPHALANGEAL JOINTS(HP:0006162), SEVERE GROWTH RETARDATION(HP:0001521), DEVELOPMENTAL RETARDATION(HP:0001263), DISLOCATED HIPS(HP:0002827), SHALLOW ACETABULAR FOSSAE(HP:0003182), LOW NASAL BRIDGE(HP:0000428), RECURRENT PNEUMONIA(HP:0002095), HORIZONTAL ACETABULAR ROOF(HP:0003171), J-SHAPED SELLA TURCICA(HP:0002680), MINIMAL SPLENOMEGALY(HP:0006269), DECREASED BODY HEIGHT(HP:0004322), THICKENED CALVARIA(HP:0002684), NARES, ANTEVERTED(HP:0000463), ECTRODACTYLY (HANDS)(HP:0001171), SMALL, IRREGULAR CARPAL BONES(HP:0006029), BEAKING OF VERTEBRAL BODIES T12-L3(HP:0004562), HYPEROPIC ASTIGMATISM(HP:0000484), PROGRESSIVE ALVEOLAR RIDGE HYPERTROPY(HP:0009092), PROGRESSIVE FAILURE TO THRIVE(HP:0008853)]
79577	CDC73	[RECURRING PANCREATITIS(HP:0100027), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SOLITARY PARATHYROID ADENOMAS(HP:0008257), PRIMARY HYPERPARATHYROIDISM(HP:0008200), PANCREATIC ADENOCARCINOMA(HP:0006725), HYPERCALCEMIA(HP:0003072), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), RENAL CORTICAL ADENOMA(HP:0006735), KIDNEY STONES(HP:0000787), HEAD ABNORMALITY(HP:0000234), PARATHYROID CARCINOMA(HP:0006780), HURTHLE CELL THYROID ADENOMA(HP:0006781), POLYCYSTIC KIDNEY(HP:0000113), PAPILLARY RENAL CELL CARCINOMA(HP:0006766)]
79628	SH3TC2	[PES CAVUS(HP:0001761), BASAL LAMINA 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003400), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), HIGHLY VARIABLE PHENOTYPE, EVEN WITHIN FAMILIES(HP:0003822), MOTOR RETARDATION(HP:0001270), DIFFICULTY WALKING(HP:0002355), DISTAL LOWER LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0003442), HETEROGENEOUS(HP:0001425), PROLONGED BRAINSTEM AUDITORY EVOKED POTENTIALS(HP:0004466), TONGUE FASCICULATIONS(HP:0001308), SEGMENTAL DEMYELINATION(HP:0007107), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV) (LESS THAN 38 M/S)(HP:0000760), ABNORMAL PUPILLARY LIGHT REFLEXES(HP:0007695), AXONAL DEGENERATION(HP:0000764), DISTAL SENSORY IMPAIRMENT(HP:0002936), CRANIAL NERVE INVOLVEMENT(HP:0003480), DISTAL LOWER LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0003485), SCOLIOSIS(HP:0002650), LOSS OF LARGE MYELINATED FIBERS(HP:0003387), EARLY ONSET(HP:0003593), LATE ONSET(HP:0003584)]
79648	MCPH1	[HETEROGENEOUS(HP:0001425), SLOPING FOREHEAD(HP:0000340), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED BODY HEIGHT(HP:0004322), PACHYGYRIA(HP:0001302), ABNORMALITY OF THE MOUTH(HP:0000153), SMALL FONTANELLES(HP:0005486), DISPROPORTIONATELY SMALL CEREBRAL CORTEX(HP:0006791), HYPERREFLEXIA(HP:0001347), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), SEIZURES(HP:0001250), UPSLANTING PALPEBRAL FISSURES(HP:0000582), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), SPASTICITY(HP:0001257), MICROCEPHALY(HP:0000252), PERIVENTRICULAR GRAY MATTER HETEROTOPIAS(HP:0007165), PREMATURE CHROMOSOME CONDENSATION(HP:0003451), LOW BIRTH WEIGHT(HP:0001518), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
79659	DYNC2H1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BULGING FOREHEAD(HP:0001358), METAPHYSEAL WIDENING(HP:0003016), OCCIPITAL PLAGIOCEPHALY(HP:0005469), METABOLISM ABNORMALITY(HP:0001939), FLATTENED NASAL BRIDGE(HP:0000425), NARROW CHEST(HP:0000774), SHORT RIBS(HP:0000773), RESPIRATORY ABNORMALITY(HP:0002086), RENAL TUBULAR DYSFUNCTION(HP:0000124), AMBIGUOUS GENITALIA(HP:0000062)]
79738	BBS10	[HYPERTENSION(HP:0000822), DIABETES MELLITUS(HP:0000819), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), CATARACT(HP:0000518), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), ABNORMALITY OF THE KIDNEYS(HP:0000077), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), LEARNING DISABILITY(HP:0001328), BILIARY TRACT ABNORMALITY(HP:0001080), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), HYPOGONADISM(HP:0000135), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), OBESITY(HP:0001513), CLINODACTYLY OF HANDS(HP:0001157), POOR COORDINATION(HP:0002370), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), HIRSUTISM(HP:0001007), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
79751	SLC25A22	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EARLY DEATH(HP:0001432), MYOCLONIC SEIZURES, INTRACTABLE(HP:0007202), CEREBRAL ATROPHY(HP:0002059), ABNORMALITY OF VISION EVOKED POTENTIALS(HP:0000649), SPASTICITY(HP:0001257), MICROCEPHALY, PROGRESSIVE(HP:0000253), NEONATAL HYPOTONIA(HP:0001319)]
79776	ZFHX4	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), CONGENITAL PTOSIS(HP:0007970)]
79784	MYH14	[HEARING LOSS, SENSORINEURAL, PROGRESSIVE(HP:0000408), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
79803	HPS6	[INFLAMMATORY BOWEL DISEASE(HP:0002037), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTERSTITIAL FIBROSIS(HP:0000129), CARDIOMYOPATHY(HP:0001638), ABDOMINAL PAIN(HP:0002027), BLEEDING DIATHESIS(HP:0001892), OCULAR ALBINISM(HP:0001107), FRECKLING(HP:0001480), RESTRICTIVE LUNG DISEASE(HP:0002091), EPISTAXIS(HP:0000421), LIFELONG REDUCED VISUAL ACUITY, LEGAL BLINDNESS TO LOW VISION(HP:0007640), HETEROGENEOUS(HP:0001425), ALBINISM(HP:0001022), BLOODY DIARRHEA(HP:0002255), FRECKLES IN SUN-EXPOSED AREAS(HP:0007603), HAIR ABNORMALITY(HP:0001595), RENAL FAILURE(HP:0000083), PIGMENTED NEVI(HP:0000995), NYSTAGMUS(HP:0000639), ECCHYMOSES(HP:0000978), PROLONGED BLEEDING TIME(HP:0003010), GINGIVAL BLEEDING(HP:0000225)]
79813	EHMT1	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), TRANSVERSE PALMAR CREASES(HP:0000954), COARSE FACIAL FEATURES(HP:0000280), MACROGLOSSIA(HP:0000158), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), HYPERTELORISM(HP:0000316), 'CARP-LIKE' MOUTH(HP:0000186), SYNOPHRYS(HP:0000664), SLEEP DISTURBANCES(HP:0002360), OBESITY(HP:0001513), MANDIBULAR PROGNATHIA(HP:0000303), BRACHYDACTYLY(HP:0001156), CONOTRUNCAL DEFECT(HP:0001710), NARES, ANTEVERTED(HP:0000463), ISOLATED CASES(HP:0001420), UPSLANTING PALPEBRAL FISSURES(HP:0000582), EVERTED LOWER LIP(HP:0000232), AGGRESSIVE BEHAVIOR(HP:0000718), ABNORMAL FORM OF EARS(HP:0000377), MICROCEPHALY(HP:0000252), BRACHYCEPHALY(HP:0000248), HEARING LOSS(HP:0000365), OBSESSIVE-COMPULSIVE DISORDER(HP:0000722), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
79944	L2HGDH	[EXTRAPYRAMIDAL SIGNS(HP:0002071), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), SEVERE DEMYELINATION OF THE WHITE MATTER(HP:0007258), CEREBELLAR ATROPHY IN MOST CASES(HP:0007072), DYSPHASIA(HP:0002357), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), ATROPHY/DEGENERATION OF THE CORPUS CALLOSUM(HP:0007371), NYSTAGMUS(HP:0000639), SPASTIC TETRAPARESIS(HP:0001285), METABOLISM ABNORMALITY(HP:0001939), DIFFUSE BRAIN ATROPHY(HP:0002283), HEARING LOSS(HP:0000365), STRABISMUS(HP:0000486), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), PSYCHOMOTOR REGRESSION BEGINNING IN INFANCY(HP:0007037)]
79977	GRHL2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513), VARIABLE AGE AT ONSET(HP:0003618)]
80025	PANK2	[FACIAL GRIMACING(HP:0000273), RETINAL DEGENERATION(HP:0000546), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), APRAXIA(HP:0002186), URINARY INCONTINENCE(HP:0000020), MRI SHOWS DECREASED SIGNAL INTENSITY IN THE PALLIDAL NUCLEI WITH CENTRAL HYPERINTENSITY ('EYE OF THE TIGER' SIGN)(HP:0002454), NEURODEGENERATION(HP:0002180), OBSESSIVE-COMPULSIVE TRAIT(HP:0008770), ABETALIPOPROTEINEMIA(HP:0008181), DYSPHONIA(HP:0001618), NEUROAXONAL DEGENERATION IN THE BRAIN(HP:0006874), PARKINSONISM(HP:0001300), GAIT DISTURBANCE(HP:0001288), PALLIDAL DEGENERATION(HP:0007132), BLOTCHING PIGMENTATION OF THE SKIN(HP:0007610), TREMOR(HP:0001337), COGNITIVE DECLINE(HP:0002303), PIGMENTARY RETINOPATHY(HP:0000580), DYSTONIA(HP:0001332), DIFFUSE BRAIN ATROPHY(HP:0002283), DEMENTIA, PROGRESSIVE(HP:0002274), AKINESIA(HP:0002304), BRADYKINESIA(HP:0002067), ABNORMALITY OF THE FEET(HP:0001760), OROFACIAL DYSKINESIA(HP:0002310), EXTRAPYRAMIDAL SIGNS(HP:0002071), FEEDING DIFFICULTIES(HP:0002022), RIGIDITY(HP:0002063), DECREASED MUSCLE MASS(HP:0003199), PSYCHOMOTOR RETARDATION(HP:0001255), SLOW PROGRESSION(HP:0003677), ATAXIA(HP:0001251), OPTIC ATROPHY(HP:0000648), RAPIDLY PROGRESSIVE(HP:0003678), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), BLEPHAROSPASM(HP:0000643), SPASTICITY(HP:0001257), CHOREOATHETOSIS(HP:0001266), CORTICOSPINAL SIGNS(HP:0007225), HYPERACTIVITY(HP:0000752), RETINITIS PIGMENTOSA(HP:0000510), DEPRESSION(HP:0000716), RED CELL ACANTHOCYTOSIS(HP:0001927)]
80067	DCAF17	[DIABETES MELLITUS(HP:0000819), EXTRAPYRAMIDAL SIGNS(HP:0002071), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), HYPOPLASTIC UTERUS(HP:0000013), VARIABLE PHENOTYPE(HP:0003813), HYPERGONADOTROPIC HYPOGONADISM(HP:0000815), RUDIMENTARY FALLOPIAN TUBES(HP:0008697), DYSARTHRIA(HP:0001260), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), CHOREOATHETOSIS(HP:0001266), MICROPENIS(HP:0000054), COGNITIVE IMPAIRMENT(HP:0002128), INCREASED SERUM THYROID-STIMULATING HORMONE (TSH)(HP:0002925), ALOPECIA(HP:0001596), PRIMARY OVARIAN FAILURE(HP:0001587), HYPERLIPIDEMIA(HP:0003077), DYSTONIA(HP:0001332), SPARSE, FINE HAIR(HP:0002291), DECREASED TESTICULAR SIZE(HP:0008734)]
80144	FRAS1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), APLASIA/HYPOPLASIA OF THE PHALANGES OF THE HAND(HP:0009767), CRYPTORCHIDISM(HP:0000028), ABNORMALITY OF THE ANUS(HP:0004378), CRYPTOPHTHALMOS(HP:0001126), LARYNGEAL STENOSIS(HP:0001602), HYPOSPADIAS(HP:0000047), SUBGLOTTIC STENOSIS(HP:0001607), CARDIAC ABNORMALITY(HP:0001627), MICROPENIS(HP:0000054), ANOPHTHALMIA(HP:0000528), BILATERAL MICROPHTHALMOS(HP:0007633), CLITOROMEGALY(HP:0000057), BLINDNESS(HP:0000618), ABNORMALITY OF THE SMALL INTESTINE(HP:0002244), RENAL HYPOPLASIA(HP:0000089), UPPER EYELID COLOBOMA(HP:0000636), PARTIAL LARYNGEAL ATRESIA(HP:0005950), ABNORMALITY OF THE UMBILICUS(HP:0001551), ABSENT EYEBROWS AND EYELASHES(HP:0002288), WIDE INTERMAMILLARY DISTANCE(HP:0006610), DENTAL OVERCROWDING(HP:0000678), VAGINAL ATRESIA(HP:0000148), DENTAL MALOCCLUSION(HP:0000689), CLEFT PALATE(HP:0000175), HYPOPLASTIC NOSTRILS(HP:0004497), WIDE PUBIC SYMPHYSIS(HP:0003183), MENTAL DEFICIENCY(HP:0001267), ENCEPHALOCELE(HP:0002084), PULMONARY HYPOPLASIA(HP:0002089), DIFFICULTY IN TONGUE MOVEMENTS(HP:0000183), CLEFT LIP(HP:0000204), HYDROCEPHALUS(HP:0000238), MICROCEPHALY(HP:0000252), ABSENT OR MALFORMED LACRIMAL DUCTS(HP:0007993), SKULL DEFECT(HP:0001362), BICORNUATE UTERUS(HP:0000813), WHITE CORNEAL OPACIFICATION(HP:0007883), MENINGOMYELOCELE(HP:0002475), HYPERTELORISM(HP:0000316), MIDLINE NASAL GROOVE(HP:0004112), HYPOPLASTIC SUPERIOR HELIX(HP:0008559), BROAD AND DEPRESSED NASAL BRIDGE(HP:0004666), ABNORMALITY OF THE THYMUS(HP:0000777), LOW-SET EARS(HP:0000369), ABNORMAL CORTICAL GYRATION(HP:0002536), CUP-SHAPED EARS(HP:0000378), RENAL AGENESIS/HYPOPLASIA(HP:0004744), EXTERNAL AUDITORY CANAL ATRESIA(HP:0000413), SEVERE T-CELL IMMUNODEFICIENCY(HP:0005352), HEARING LOSS, CONDUCTIVE(HP:0000405), APLASIA/HYPOPLASIA OF THE THUMB(HP:0009601), MICROTIA(HP:0000393), FACIAL CLEFT(HP:0002006), BROAD NOSE(HP:0000445), UNUSUAL HAIRLINE WITH HAIR GROWTH ON TEMPLES EXTENDING TO LATERAL EYEBROW(HP:0005325), APLASIA/HYPOPLASIA OF THE STERNUM(HP:0006714), FLATTENED NASAL BRIDGE(HP:0000425), HYPOPLASTIC, NOTCHED NARES(HP:0005286), CHOANAL STENOSIS(HP:0000452), CUTANEOUS SYNDACTYLY OF THE FINGERS(HP:0010554), MIDDLE EAR MALFORMATIONS(HP:0008609)]
80184	CEP290	[HYPERTENSION(HP:0000822), TAPETORETINAL DEGENERATION(HP:0000547), DIABETES MELLITUS(HP:0000819), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), CONGENITAL BLINDNESS(HP:0007875), RENAL CORTICAL CYSTS(HP:0000803), CATARACT(HP:0000518), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), CEREBELLAR VERMIS APLASIA/HYPOPLASIA(HP:0006817), END STAGE RENAL DISEASE(HP:0003774), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), NEONATAL BREATHING DYSREGULATION(HP:0002790), NEPHRONOPHTHISIS(HP:0000090), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), LEARNING DISABILITY(HP:0001328), BILIARY TRACT ABNORMALITY(HP:0001080), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), HYPOGONADISM(HP:0000135), SHORT, BROAD FEET(HP:0001773), CENTRAL APNEA(HP:0002871), HIGH-ARCHED PALATE(HP:0000156), TACHYPNEA, EPISODIC(HP:0002876), AGENESIS OF CEREBELLAR VERMIS(HP:0002335), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), URINE CONCENTRATION DEFECT(HP:0005568), OBESITY(HP:0001513), OCULOMOTOR APRAXIA(HP:0000657), CLINODACTYLY OF HANDS(HP:0001157), POOR COORDINATION(HP:0002370), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), HIRSUTISM(HP:0001007), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), THICK AND ELONGATED SUPERIOR CEREBELLAR PEDUNCLES(HP:0002404), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), 'MOLAR TOOTH SIGN' ON MRI(HP:0002419), STRABISMUS(HP:0000486), RETINAL COLOBOMA(HP:0000480), ASTIGMATISM(HP:0000483)]
80207	OPA3	[COGNITIVE DEFECTS(HP:0002441), EXTRAPYRAMIDAL SIGNS(HP:0002071), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CHOREA(HP:0002072), HYPERREFLEXIA(HP:0001347), BABINSKI SIGN(HP:0003487), CATARACT(HP:0000518), ATAXIA(HP:0001251), IMPAIRED VISION(HP:0000505), METABOLISM ABNORMALITY(HP:0001939), OPTIC ATROPHY(HP:0000648), DYSARTHRIA(HP:0001260), SPASTICITY(HP:0001257)]
80208	SPG11	[SPASTIC GAIT(HP:0002064), PES CAVUS(HP:0001761), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEGENERATION OF THE LATERAL CORTICOSPINAL TRACTS(HP:0002314), URINARY URGENCY(HP:0000012), NEUROGENIC MUSCLE ATROPHY(HP:0003702), THIN CORPUS CALLOSUM(HP:0002319), SPHINCTER DISTURBANCE(HP:0000018), PERIPHERAL SENSORY NEUROPATHY, DISTAL(HP:0007067), URINARY INCONTINENCE(HP:0000020), HYPERREFLEXIA(HP:0001347), LOWER LIMB SPASTICITY(HP:0002061), COGNITIVE DEFICITS(HP:0002337), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), DYSARTHRIA(HP:0001260), DYSPHAGIA(HP:0002015), SPASTIC PARAPLEGIA(HP:0001258), SPHINCTER DISTURBANCES (BLADDER)(HP:0002839), ADULT ONSET HAS BEEN REPORTED(HP:0003662), AGENESIS OF CORPUS CALLOSUM(HP:0001274), ONSET IN CHILDHOOD(HP:0003578), PERIVENTRICULAR WHITE MATTER CHANGES(HP:0002518), NYSTAGMUS(HP:0000639), CEREBRAL CORTICAL ATROPHY(HP:0002120), WALKING ON TIPTOES(HP:0002394), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), KNEE AND ANKLE CLONUS(HP:0002541), DECREASED VIBRATORY SENSE IN THE LOWER LIMBS(HP:0002166), LEARNING DISABILITY(HP:0001328), MOTOR AND SENSORY NEUROPATHY(HP:0007142)]
80324	PUS1	[DELAYED PUBERTY(HP:0000823), INCREASED SERUM FERRITIN(HP:0003281), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MUSCLE BIOPSY SHOWS DECREASED ACTIVITY OF CYTOCHROME C OXIDASE(HP:0003688), HIGH-ARCHED PALATE(HP:0000156), EXERCISE INTOLERANCE(HP:0003546), DISTICHIASIS(HP:0009743), MENTAL RETARDATION(HP:0001249), MUSCLE WEAKNESS, PROGRESSIVE(HP:0003323), GENERALIZED LIMB MUSCLE ATROPHY(HP:0009055), MICROGNATHIA(HP:0000210), LACTIC ACIDEMIA(HP:0003128), MITOCHONDRIAL MYOPATHY(HP:0003737), PALLOR(HP:0000980), INCREASED SERUM LACTATE(HP:0002151), MICROCEPHALY(HP:0000252), SIDEROBLASTIC ANEMIA(HP:0001924), MICROCYTIC ANEMIA(HP:0001935), HYPOCHROMIC ANEMIA(HP:0001931)]
80326	WNT10A	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SQUAMOUS CELL CARCINOMA(HP:0002860), ELECTRON MICROSCOPIC ABNORMALITY OF THE SKIN(HP:0001479), BIRD-LIKE FACIES(HP:0000320), HYPOTRICHOSIS(HP:0001006), BASAL CELL CARCINOMA(HP:0002671), ABSENT HAIR(HP:0002298), DEPRESSION(HP:0000716), THIN HAIR(HP:0002237), PALMOPLANTAR KERATODERMA(HP:0000982), DYSTROPHIC TOENAILS(HP:0001810), HYPERHIDROSIS OF PALMS AND SOLES(HP:0007624), HYPODONTIA(HP:0000668), ONYCHOLYSIS(HP:0001806), SPARSE EYEBROWS(HP:0000535), LONGITUDINAL RIDGING(HP:0001801), NAIL HYPOPLASIA(HP:0001792)]
80781	COL18A1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), VENTRICULOMEGALY(HP:0002119), VISUAL LOSS(HP:0000572), MACULAR HYPOPLASIA(HP:0001104), SEVERE MYOPIA (> -6.00 DIOPTERS)(HP:0000569), VITREORETINAL DEGENERATION(HP:0000655), CONGENITAL CATARACT(HP:0000519), BAND KERATOPATHY(HP:0000585), PHTHISIS BULBI(HP:0000667), OCCIPITAL ENCEPHALOCELE(HP:0002085), DETACHED RETINA(HP:0000541)]
81031	SLC2A10	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE JOINTS(HP:0001367), TELANGIECTASES OF THE CHEEKS(HP:0007421), TORTUOSITY AND ELONGATION, ALL MAJOR ARTERIES AND AORTA(HP:0006687), PULMONARY ARTERY STENOSIS(HP:0004415), AORTIC INSUFFICIENCY(HP:0001659), HIGH PALATE(HP:0000218), ARTERIAL TORTUOSITY(HP:0005116), CUTIS LAXA(HP:0000973)]
81693	AMN	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PARESTHESIA(HP:0003401), SENSORY IMPAIRMENT(HP:0003474), CONFUSION(HP:0001289), PROTEINURIA(HP:0000093), MALABSORPTION(HP:0002024), IMMUNOLOGICAL ABNORMALITY(HP:0002715), MEGALOBLASTIC ANEMIA, CHRONIC, RELAPSING(HP:0004858), EARLY ONSET(HP:0003593), DEMENTIA(HP:0000726)]
81704	DOCK8	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RECURRENT SINOPULMONARY INFECTIONS(HP:0005425), EARLY DEATH(HP:0001432), SUBARACHNOID HEMORRHAGE(HP:0002138), CEREBRAL VASCULITIS(HP:0005318), EOSINOPHILIA(HP:0001880), HEMIPLEGIA(HP:0002301), METABOLISM ABNORMALITY(HP:0001939), ECZEMATOID DERMATITIS(HP:0000976), RECURRENT VIRAL INFECTIONS(HP:0004429), ONSET IN INFANCY(HP:0003576)]
81794	ADAMTS10	[BROAD PHALANGES OF THE HAND(HP:0009768), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BROAD METACARPALS(HP:0001230), BROAD METATARSALS(HP:0001783), SPINAL CANAL STENOSIS(HP:0003416), MISSHAPEN TEETH(HP:0000697), MALALIGNED TEETH(HP:0000693), SEVERE MYOPIA (> -6.00 DIOPTERS)(HP:0000569), CATARACT(HP:0000518), SMALL SHALLOW ORBITS(HP:0002706), FLATTENED NASAL BRIDGE(HP:0000425), NARROW PALATE(HP:0000189), JOINT STIFFNESS(HP:0001387), BROAD RIBS(HP:0000885), BRACHYDACTYLY(HP:0001156), BLINDNESS(HP:0000618), BROAD SKULL(HP:0002682), HYPOPLASIA OF THE MAXILLA(HP:0000327), BROAD HANDS(HP:0001169), LUMBAR HYPERLORDOSIS(HP:0002938), GLAUCOMA(HP:0000501), SHORT STATURE, PROPORTIONATE(HP:0003499), SCOLIOSIS(HP:0002650), ECTOPIA LENTIS(HP:0001083), SHALLOW ANTERIOR CHAMBER(HP:0000594), BRACHYCEPHALY(HP:0000248), ADULT FEMALE HEIGHT 130-157 CM(HP:0003512), THIN BONY CORTEX(HP:0002753), ADULT MALE HEIGHT 142-169 CM(HP:0003518), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
81839	VANGL1	[ANTERIOR SACRAL MENINGOCELE(HP:0007293), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RECTAL ABSCESS(HP:0005224), MENINGOCELE(HP:0002435), HEADACHE(HP:0002315), NEUROGENIC BLADDER(HP:0000011), LIPOMAS(HP:0001012), ANENCEPHALY(HP:0002323), URINARY RETENTION(HP:0000016), BACK PAIN(HP:0003418), URINARY INCONTINENCE(HP:0000020), CHRONIC CONSTIPATION(HP:0002241), MENINGITIS(HP:0001287), HYDROCEPHALUS(HP:0000238), ASYMMETRY OF SPINAL FACET JOINTS(HP:0008482), SPINA BIFIDA OCCULTA(HP:0003298)]
81846	SBF2	[KYPHOSCOLIOSIS(HP:0002751), PES CAVUS(HP:0001761), HAMMER TOES(HP:0001765), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), SEVERE DISTAL SENSORY IMPAIRMENT(HP:0006922), DISTAL AMYOTROPHY(HP:0003693), THIN MYELIN SHEATHS(HP:0003408), SEGMENTAL DEMYELINATION/REMYELINATION ON NERVE BIOPSY(HP:0003425), DIFFICULTY WALKING(HP:0002355), HYPOREFLEXIA(HP:0001265), HETEROGENEOUS(HP:0001425), SEGMENTAL DEMYELINATION(HP:0007107), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), CLAW HAND DEFORMITIES (IN SEVERE CASES)(HP:0001178), AREFLEXIA(HP:0001284), GLAUCOMA(HP:0000501), DECREASED NUMBER OF LARGE AND SMALL MYELINATED FIBERS(HP:0007320), EARLY ONSET(HP:0003593), FOOT DROP(HP:0003377), 'STEPPAGE' GAIT(HP:0003376), ONSET IN FIRST OR SECOND DECADE(HP:0003589), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383)]
81857	MED25	[HETEROGENEOUS(HP:0001425), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0002935), DISTAL LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0002934), DISTAL AMYOTROPHY(HP:0003693), DISTAL SENSORY IMPAIRMENT(HP:0002936), AREFLEXIA(HP:0001284), NORMAL OR MILDLY DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV)(HP:0003437), HYPOREFLEXIA(HP:0001265)]
83394	PITPNM3	[PROGRESSIVE CENTRAL VISION LOSS(HP:0008008), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PHOTOPHOBIA(HP:0000613), CENTRAL SCOTOMA(HP:0000603)]
83552	MFRP	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MICROPHTHALMOS(HP:0000568)]
83605	CCM2	[HETEROGENEOUS(HP:0001425), SEIZURES(HP:0001250), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SPORADIC(HP:0003745)]
83893	SPATA16	[INFERTILITY(HP:0000789), METABOLISM ABNORMALITY(HP:0001939)]
83959	SLC4A11	[CORNEAL CLOUDING(HP:0000515), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGENITAL CORNEAL DYSTROPHY(HP:0008005), ABNORMALITY OF THE EARS(HP:0000598)]
83990	BRIP1	[HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), BREAST CANCER(HP:0003002)]
84059	GPR98	[HETEROGENEOUS(HP:0001425), FEBRILE SEIZURES(HP:0002373), GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTONIC SEIZURES(HP:0002184), HYPOTONIC SEIZURES(HP:0002124), HEARING LOSS, SENSORINEURAL, MODERATE-SEVERE(HP:0008576), SEIZURES USUALLY LAST LESS THAN 15 MINUTES(HP:0002125), SEIZURES OCCUR IN ABSENCE OF INTRACRANIAL INFECTION OR DEFINED PATHOLOGIC OR TRAUMATIC CAUSE(HP:0002182), ONSET 3 MONTHS OF AGE UP TO 5 YEARS(HP:0003617), SEIZURES, GENERALIZED, ASSOCIATED WITH FEVER(HP:0002175), PROGRESSIVE RETINITIS PIGMENTOSA(HP:0001127), CHILDREN WILL DEVELOP AFEBRILE SEIZURE DISORDERS LATER IN LIFE(HP:0002431), EPILEPSY(HP:0001275), HEARING LOSS, CONGENITAL, SENSORINEURAL, MODERATE-SEVERE(HP:0008612)]
84062	DTNBP1	[INFLAMMATORY BOWEL DISEASE(HP:0002037), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTERSTITIAL FIBROSIS(HP:0000129), CARDIOMYOPATHY(HP:0001638), ABDOMINAL PAIN(HP:0002027), BLEEDING DIATHESIS(HP:0001892), OCULAR ALBINISM(HP:0001107), FRECKLING(HP:0001480), RESTRICTIVE LUNG DISEASE(HP:0002091), EPISTAXIS(HP:0000421), LIFELONG REDUCED VISUAL ACUITY, LEGAL BLINDNESS TO LOW VISION(HP:0007640), HETEROGENEOUS(HP:0001425), ALBINISM(HP:0001022), BLOODY DIARRHEA(HP:0002255), FRECKLES IN SUN-EXPOSED AREAS(HP:0007603), HAIR ABNORMALITY(HP:0001595), RENAL FAILURE(HP:0000083), PIGMENTED NEVI(HP:0000995), NYSTAGMUS(HP:0000639), ECCHYMOSES(HP:0000978), PROLONGED BLEEDING TIME(HP:0003010), GINGIVAL BLEEDING(HP:0000225)]
84100	ARL6	[HYPERTENSION(HP:0000822), DIABETES MELLITUS(HP:0000819), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), CATARACT(HP:0000518), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), ABNORMALITY OF THE KIDNEYS(HP:0000077), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), LEARNING DISABILITY(HP:0001328), BILIARY TRACT ABNORMALITY(HP:0001080), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), HYPOGONADISM(HP:0000135), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), OBESITY(HP:0001513), CLINODACTYLY OF HANDS(HP:0001157), POOR COORDINATION(HP:0002370), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), HIRSUTISM(HP:0001007), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
84107	ZIC4	[HETEROGENEOUS(HP:0001425), ENLARGED FOURTH VENTRICLE(HP:0002198), TRUNCAL ATAXIA(HP:0002078), POSTERIOR FOSSA CYST AT THE FOURTH VENTRICLE(HP:0000933), NYSTAGMUS(HP:0000639), THINNING AND BULGING OF THE POSTERIOR FOSSA BONES(HP:0000931), ELEVATED IMPRINT OF THE TRANSVERSE SINUSES(HP:0000930), HYDROCEPHALUS(HP:0000238), PARTIAL OR COMPLETE ABSENCE OF CEREBELLAR VERMIS(HP:0002951), CRANIAL NERVE PARALYSIS(HP:0006824)]
84295	PHF6	[DELAYED PUBERTY(HP:0000823), COARSE FACIAL FEATURES(HP:0000280), CRYPTORCHIDISM(HP:0000028), MICROPENIS(HP:0000054), ABNORMALITY OF THE BREASTS(HP:0000769), KYPHOSIS(HP:0002808), PROMINENT SUPRAORBITAL RIDGES(HP:0000336), WIDELY SPACED AND FLEXED TOES(HP:0008077), SCHEUERMANN-LIKE VERTEBRAL CHANGES(HP:0008478), NYSTAGMUS(HP:0000639), HYPOPLASIA OF THE TOES(HP:0004701), BLEPHAROPHIMOSIS(HP:0000581), MENTAL RETARDATION, PROGRESSIVE(HP:0006887), LARGE EARS(HP:0000400), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), EEG ABNORMALITIES(HP:0002353), HYPOPLASTIC PROSTATE(HP:0008687), NARROW CERVICAL SPINAL CANAL(HP:0008445), HYPOPLASTIC DISTAL AND MIDDLE PHALANGES(HP:0006118), DECREASED BODY HEIGHT(HP:0004322), THICKENED CALVARIA(HP:0002684), X-LINKED RECESSIVE INHERITANCE(HP:0001419), TAPERED FINGERS(HP:0001182), PTOSIS(HP:0000508), IMPAIRED VISION(HP:0000505), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), DEEP SET EYES(HP:0000490)]
84343	HPS3	[INFLAMMATORY BOWEL DISEASE(HP:0002037), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTERSTITIAL FIBROSIS(HP:0000129), CARDIOMYOPATHY(HP:0001638), ABDOMINAL PAIN(HP:0002027), BLEEDING DIATHESIS(HP:0001892), OCULAR ALBINISM(HP:0001107), FRECKLING(HP:0001480), RESTRICTIVE LUNG DISEASE(HP:0002091), EPISTAXIS(HP:0000421), LIFELONG REDUCED VISUAL ACUITY, LEGAL BLINDNESS TO LOW VISION(HP:0007640), HETEROGENEOUS(HP:0001425), ALBINISM(HP:0001022), BLOODY DIARRHEA(HP:0002255), FRECKLES IN SUN-EXPOSED AREAS(HP:0007603), HAIR ABNORMALITY(HP:0001595), RENAL FAILURE(HP:0000083), PIGMENTED NEVI(HP:0000995), NYSTAGMUS(HP:0000639), ECCHYMOSES(HP:0000978), PROLONGED BLEEDING TIME(HP:0003010), GINGIVAL BLEEDING(HP:0000225)]
84572	GNPTG	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), COARSE FACIAL FEATURES(HP:0000280), GENU VALGUM(HP:0002857), AORTIC INSUFFICIENCY(HP:0001659), FLARED ILIAC WINGS(HP:0002869), DYSOSTOSIS MULTIPLEX(HP:0000943), AORTIC STENOSIS(HP:0001650), MENTAL RETARDATION, MILD(HP:0001256), INCREASED SERUM BETA-HEXOSAMINIDASE(HP:0008299), PECTUS CARINATUM(HP:0000768), ABNORMALITY OF THE EYES(HP:0000478), KYPHOSIS(HP:0002808), ABNORMALITY OF THE HAND(HP:0001155), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), FLAT CAPITAL FEMORAL EPIPHYSES(HP:0003370), ABNORMALITY OF THE MORPHOLOGY OR SIZE OF THE RIB CAGE(HP:0001547), SCOLIOSIS(HP:0002650)]
84627	ZNF469	[CONGENITAL HIP DISLOCATION(HP:0001374), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MITRAL VALVE PROLAPSE(HP:0001634), EPICANTHUS(HP:0000286), DENTINOGENESIS IMPERFECTA(HP:0000703), KERATOGLOBUS(HP:0001119), MACROCEPHALY(HP:0000256), KERATOCONUS(HP:0000563), VISUAL LOSS(HP:0000572), JOINT LAXITY(HP:0001388), SPONDYLOLISTHESIS(HP:0003302), DOLICHOSTENOMELIA(HP:0001519), EXCESSIVE WRINKLED SKIN (PALMS AND SOLES)(HP:0001016), MOLLUSCOID PSEUDOTUMORS(HP:0000993), ATYPICAL SCARRING(HP:0000987), METABOLISM ABNORMALITY(HP:0001939), RED HAIR(HP:0002297), SCOLIOSIS(HP:0002650), BLUE SCLERAE(HP:0000592), HEARING LOSS(HP:0000365)]
84634	KISS1R	[ISOLATED HYPOGONADOTROPIC HYPOGONADISM(HP:0008224), METABOLISM ABNORMALITY(HP:0001939), PRIMARY AMENORRHEA(HP:0000786), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ISOSEXUAL PRECOCIOUS PUBERTY(HP:0008236), GROWTH ABNORMALITY(HP:0001507), DECREASED TESTICULAR SIZE(HP:0008734)]
84668	FAM126A	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), WEAKNESS(HP:0002309), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERREFLEXIA(HP:0001347), CONGENITAL CATARACT(HP:0000519), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), GENERALIZED MUSCLE WEAKNESS(HP:0003324), DYSARTHRIA(HP:0001260), MOTOR RETARDATION(HP:0001270), POLYNEUROPATHY(HP:0001271), INTENTION TREMOR(HP:0002080), ONSET IN INFANCY(HP:0003576), DECREASED NERVE CONDUCTION VELOCITIES(HP:0000762), BABINSKI SIGN(HP:0003487), MENTAL RETARDATION, MILD TO MODERATE(HP:0002122), LEUKODYSTROPHY(HP:0002415), SCOLIOSIS(HP:0002650), ABNORMALITY OF THE CEREBELLUM(HP:0001317)]
84693	MCEE	[METHYLMALONIC ACIDEMIA(HP:0002912), METABOLIC ACIDOSIS(HP:0001942), KETONURIA(HP:0002919), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEHYDRATION(HP:0001944), FAILURE TO THRIVE(HP:0001508), GASTROESOPHAGEAL REFLUX(HP:0002020)]
84823	LMNB2	[LOSS OF SUBCUTANEOUS ADIPOSE TISSUE FROM FACE, PROGRESSIVE(HP:0009019), LOSS OF SUBCUTANEOUS ADIPOSE TISSUE FROM UPPER LIMBS AND TRUNK(HP:0009056), DECREASED SUBCUTANEOUS FAT(HP:0001002), DECREASED SERUM COMPLEMENT C3(HP:0005421), VARIABLE PHENOTYPE(HP:0003813), PROTEINURIA(HP:0000093), ISOLATED CASES(HP:0001420), HEMATURIA(HP:0000790), NEPHROTIC SYNDROME(HP:0000100), RECURRENT INFECTIONS(HP:0002719), MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS(HP:0000793), ONSET IN FIRST OR SECOND DECADE(HP:0003589)]
84925	DIRC2	[METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MULTIPLE TUMORS(HP:0003008), EARLY ONSET(HP:0003593), ERYTHROCYTOSIS(HP:0001901), PAPILLARY RENAL CELL CARCINOMA(HP:0006766)]
84930	MASTL	[MILD-MODERATE BRUISABILITY(HP:0007433), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), THROMBOCYTOPENIA(HP:0001873)]
85300	ATCAY	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), BROAD-BASED GAIT(HP:0002136), NONPROGRESSIVE DISORDER(HP:0003680), NYSTAGMUS(HP:0000639), PSYCHOMOTOR RETARDATION(HP:0001255), CEREBELLAR ATAXIA(HP:0001253), MUSCULAR HYPOTONIA(HP:0001252), DYSARTHRIA(HP:0001260), INTENTION TREMOR(HP:0002080)]
85366	MYLK2	[ASYMMETRIC SEPTAL HYPERTROPHY(HP:0001670), SUDDEN DEATH(HP:0001699), METABOLISM ABNORMALITY(HP:0001939), CONGESTIVE HEART FAILURE(HP:0001635), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), SUBAORTIC STENOSIS(HP:0001682)]
85476	GFM1	[HEPATIC PERIPORTAL NECROSIS(HP:0002614), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MICROCEPHALY, MILD(HP:0001366), HYPOPLASIA OF THE CORPUS CALLOSUM(HP:0002079), BASAL GANGLIA CYSTS(HP:0006799), DECREASED SPONTANEOUS MOVEMENTS(HP:0002603), HEPATOCELLULAR NECROSIS(HP:0001404), CHOLESTASIS(HP:0001396), MOTOR RETARDATION(HP:0001270), INTRAUTERINE GROWTH RETARDATION(HP:0001511), HYPERTONIA(HP:0001276), ONSET AT BIRTH(HP:0003577), METABOLIC ACIDOSIS, SEVERE(HP:0004907), HYPOKINESIA(HP:0002375), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), FULMINANT HEPATIC FAILURE(HP:0004448), INCREASED SERUM LACTATE(HP:0002151), DIFFUSE BRAIN ATROPHY(HP:0002283)]
89781	HPS4	[INFLAMMATORY BOWEL DISEASE(HP:0002037), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTERSTITIAL FIBROSIS(HP:0000129), CARDIOMYOPATHY(HP:0001638), ABDOMINAL PAIN(HP:0002027), BLEEDING DIATHESIS(HP:0001892), OCULAR ALBINISM(HP:0001107), FRECKLING(HP:0001480), RESTRICTIVE LUNG DISEASE(HP:0002091), EPISTAXIS(HP:0000421), LIFELONG REDUCED VISUAL ACUITY, LEGAL BLINDNESS TO LOW VISION(HP:0007640), HETEROGENEOUS(HP:0001425), ALBINISM(HP:0001022), BLOODY DIARRHEA(HP:0002255), FRECKLES IN SUN-EXPOSED AREAS(HP:0007603), HAIR ABNORMALITY(HP:0001595), RENAL FAILURE(HP:0000083), PIGMENTED NEVI(HP:0000995), NYSTAGMUS(HP:0000639), ECCHYMOSES(HP:0000978), PROLONGED BLEEDING TIME(HP:0003010), GINGIVAL BLEEDING(HP:0000225)]
89884	LHX4	[HYPOTHYROIDISM(HP:0000821), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOADRENALISM(HP:0000865), HYPOGLYCEMIA(HP:0001943), SEVERE GROWTH RETARDATION FROM INFANCY(HP:0008911), MARKED DELAY IN BONE AGE(HP:0003799), PITUITARY DWARFISM(HP:0000839)]
90167	FRMD7	[ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), MILDLY REDUCED VISUAL ACUITY(HP:0007739), CONGENITAL NYSTAGMUS(HP:0006934), NYSTAGMUS, HORIZONTAL(HP:0000666), X-LINKED RECESSIVE INHERITANCE(HP:0001419), ONSET IN INFANCY(HP:0003576), X-LINKED DOMINANT INHERITANCE(HP:0001423)]
90411	MCFD2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FACTOR V DEFICIENCY(HP:0003225), BLEEDING DIATHESIS(HP:0001892), FACTOR VIII DEFICIENCY(HP:0003125)]
91147	TMEM67	[HETEROGENEOUS(HP:0001425), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE URINARY TRACT(HP:0000079), BILE DUCT PROLIFERATION(HP:0001408), BREATHING DYSREGULATION(HP:0005957), THICK AND ELONGATED SUPERIOR CEREBELLAR PEDUNCLES(HP:0002404), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), HEPATIC FIBROSIS(HP:0001395), CEREBELLAR VERMIS HYPOPLASIA(HP:0001320), DEEP POSTERIOR INTERPEDUNCULAR FOSSA(HP:0002420), 'MOLAR TOOTH SIGN' ON MRI(HP:0002419), OCULOMOTOR APRAXIA(HP:0000657)]
91942	NDUFAF2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BLINDNESS(HP:0000618), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), MUSCLE WEAKNESS(HP:0001324), HEARING LOSS, SENSORINEURAL(HP:0000407), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LEUKODYSTROPHY(HP:0002415), STRABISMUS(HP:0000486)]
92344	GORAB	[MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), OSTEOPOROSIS(HP:0000939), BICONCAVE VERTEBRAL BODIES(HP:0004586), WORMIAN BONES(HP:0002645), VERTEBRAL COMPRESSION FRACTURES(HP:0002953), BEAKING OF VERTEBRAL BODIES(HP:0004568), CUTIS LAXA(HP:0000973), DWARFISM(HP:0001516), MANDIBULAR PROGNATHIA(HP:0000303)]
93986	FOXP2	[LANGUAGE DELAY(HP:0002336), HETEROGENEOUS(HP:0001425), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), STRUCTURAL ABNORMALITIES IN THE BASAL GANGLIA(HP:0006952), APRAXIA(HP:0002186), ABNORMALITY OF THE FACE(HP:0000271), INCOMPREHENSIBLE SPEECH(HP:0002546)]
113189	CHST14	[TALIPES EQUINOVARUS(HP:0001762), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABNORMALITY OF THE MOUTH(HP:0000153), DELAYED CLOSURE OF FONTANELLES(HP:0000270), PSYCHOMOTOR RETARDATION(HP:0001255), FACIAL DYSMORPHISM(HP:0001999), SEVERELY ADDUCTED THUMBS(HP:0005646), ARACHNODACTYLY(HP:0001166), TELECANTHUS(HP:0000506), ABNORMALITY OF THE ANTERIOR CHAMBER(HP:0000593), POSTERIORLY ROTATED EARS(HP:0000358), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494), DISTAL ARTHROGRYPOSIS(HP:0005684)]
113235	SLC46A1	[BASAL GANGLIA CALCIFICATION(HP:0002135), ATHETOSIS(HP:0002305), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ATAXIA(HP:0001251), SEIZURES(HP:0001250), METABOLISM ABNORMALITY(HP:0001939), MENTAL RETARDATION(HP:0001249), DIARRHEA(HP:0002014), FOLATE-RESPONSIVE MEGALOBLASTIC ANEMIA(HP:0004851), SUSCEPTIBILITY TO INFECTION(HP:0002964)]
113278	C20orf54	[TONGUE FASCICULATIONS(HP:0001308), BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), NOCTURNAL HYPOVENTILATION(HP:0002877), BULBAR PALSY(HP:0001283), CRANIAL NERVE MOTOR LOSS(HP:0007097), ONSET IN CHILDHOOD(HP:0003578)]
114548	NLRP3	[HEARING LOSS, SENSORINEURAL, PROGRESSIVE(HP:0000408), RENAL AMYLOIDOSIS(HP:0001917), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEADACHE(HP:0002315), ABNORMALITY OF THE MOUTH(HP:0000153), IMMUNOLOGICAL ABNORMALITY(HP:0002715), ELEVATED ERYTHROCYTE SEDIMENTATION RATE(HP:0003565), MYALGIA(HP:0003326), ARTHRALGIA(HP:0002829), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), RENAL FAILURE(HP:0000083), FEVER, EPISODIC(HP:0001954), CONJUNCTIVITIS(HP:0000509), HYDROPS(HP:0000990), EDEMA(HP:0000969), LATE ONSET(HP:0003584)]
114798	SLITRK1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AGGRESSIVE BEHAVIOR(HP:0000718), ATTENTION DEFICIT HYPERACTIVITY DISORDER(HP:0007018), SELF-MUTILATION(HP:0000742), SLEEP DISTURBANCES(HP:0002360), OBSESSIVE-COMPULSIVE DISORDER(HP:0000722)]
114902	C1QTNF5	[NIGHT BLINDNESS BEGINNING IN THE 6TH DECADE(HP:0007830), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), RETINOPATHY(HP:0000488)]
116085	SLC22A12	[URIC ACID UROLITHIASIS(HP:0000791), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOURICEMIA(HP:0003537)]
116442	RAB39B	[LONG FACE(HP:0000276), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPERACTIVITY(HP:0000752), DOLICHOCEPHALY(HP:0000268), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), STEREOTYPED, REPETITIVE BEHAVIOUR(HP:0000733)]
116519	APOA5	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), DIABETES MELLITUS(HP:0000819), HYPERLIPOPROTEINEMIA II(HP:0003611)]
117531	TMC1	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DEAFNESS(HP:0000404), BILATERAL CONDUCTIVE DEAFNESS(HP:0008513)]
118429	ANTXR2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), COARSE FACIAL FEATURES(HP:0000280), GINGIVAL HYPERTROPHY(HP:0000195), OSTEOLYSIS(HP:0002797), OSTEOPOROSIS(HP:0000939), OSTEOPENIA(HP:0000938), GINGIVAL FIBROMATOSIS(HP:0000169), RECURRENT INFECTIONS(HP:0002719), METABOLISM ABNORMALITY(HP:0001939), DEATH IN INFANCY(HP:0001522), NEUROLOGICAL ABNORMALITY(HP:0000707), DIARRHEA(HP:0002014), FAILURE TO THRIVE(HP:0001508), JOINT CONTRACTURES, PROGRESSIVE(HP:0005876), THICKENED SKIN(HP:0001072)]
120227	CYP2R1	[RICKETS(HP:0002748), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DIFFICULTY STANDING(HP:0003698), CURVATURES OF THE FEMUR, TIBIA, FIBULA(HP:0002976), BOWING OF THE LEGS(HP:0002979), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), ENLARGED EPIPHYSES(HP:0010580), MUSCULAR HYPOTONIA(HP:0001252), FRONTAL BOSSING(HP:0002007), FAILURE TO THRIVE(HP:0001508), DIFFICULTY WALKING(HP:0002355), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), ONSET IN INFANCY(HP:0003576), DEFORMED RIB CAGE(HP:0000886), LATE OSSIFYING EPIPHYSES(HP:0002663), FRAYED, IRREGULAR METAPHYSES(HP:0003017), ENLARGEMENT OF THE WRISTS(HP:0003020), BONE PAIN(HP:0002653), 'BULGING' EPIPHYSES(HP:0003013), HYPOPHOSPHATEMIA(HP:0002148), ENLARGEMENT AND BULGING OF THE COSTOCHONDRAL JUNCTION(HP:0006620), MUSCLE WEAKNESS(HP:0001324), THIN BONY CORTEX(HP:0002753), SPARSE BONE TRABECULAE(HP:0002752), POSTERIOR FLATTENING OF THE SKULL(HP:0000247), RECURRENT FRACTURES(HP:0002757), ENLARGEMENT OF THE ANKLES(HP:0003029)]
120892	LRRK2	[BRADYKINESIA(HP:0002067), REDUCED PENETRANCE(HP:0003830), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PARKINSONISM(HP:0001300), RESTING TREMOR(HP:0002322), RIGIDITY(HP:0002063), COGNITIVE DECLINE(HP:0002303), NEURONAL LOSS(HP:0002400), SLOW PROGRESSION(HP:0003677), POSTURAL INSTABILITY(HP:0002172), GLIOSIS(HP:0002171), FAVORABLE RESPONSE TO LEVODOPA(HP:0002548), DEMENTIA(HP:0000726)]
121512	FGD4	[TALIPES EQUINOVARUS(HP:0001762), PES CAVUS(HP:0001761), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ONSET BEFORE AGE 2 YEARS(HP:0003667), MOTOR RETARDATION(HP:0001270), HYPOREFLEXIA(HP:0001265), DISTAL LOWER LIMB MUSCLE ATROPHY DUE TO PERIPHERAL NEUROPATHY(HP:0003442), HETEROGENEOUS(HP:0001425), DECREASED MOTOR NERVE CONDUCTION VELOCITY (NCV) (LESS THAN 38 M/S)(HP:0000760), DISTAL SENSORY IMPAIRMENT(HP:0002936), WADDLING GAIT(HP:0002515), AREFLEXIA(HP:0001284), UPPER LIMB INVOLVEMENT MAY OCCUR LATER(HP:0003484), DISTAL LOWER LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY(HP:0003485), SCOLIOSIS(HP:0002650), DEMYELINATION(HP:0003381), DECREASED NUMBER OF MYELINATED FIBERS(HP:0003380), 'ONION BULB' FORMATIONS ON NERVE BIOPSY(HP:0003383)]
122042	RXFP2	[RENAL AGENESIS(HP:0000104), CRYPTORCHIDISM(HP:0000028)]
123016	TTC8	[HYPERTENSION(HP:0000822), DIABETES MELLITUS(HP:0000819), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), CATARACT(HP:0000518), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), ABNORMALITY OF THE KIDNEYS(HP:0000077), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), LEARNING DISABILITY(HP:0001328), BILIARY TRACT ABNORMALITY(HP:0001080), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), HYPOGONADISM(HP:0000135), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), OBESITY(HP:0001513), CLINODACTYLY OF HANDS(HP:0001157), POOR COORDINATION(HP:0002370), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), HIRSUTISM(HP:0001007), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
123606	NIPA1	[SPASTIC GAIT(HP:0002064), PES CAVUS(HP:0001761), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), WEAKNESS(HP:0002309), DEGENERATION OF THE LATERAL CORTICOSPINAL TRACTS(HP:0002314), URINARY URGENCY(HP:0000012), SPHINCTER DISTURBANCE(HP:0000018), URINARY INCONTINENCE(HP:0000020), VARIABLE SEVERITY(HP:0003814), LOWER LIMB SPASTICITY(HP:0002061), HYPERREFLEXIA(HP:0001347), SEIZURES(HP:0001250), PROGRESSIVE DISORDER(HP:0003676), GENERALIZED MUSCLE WEAKNESS(HP:0003324), ONSET BEFORE AGE 2 YEARS(HP:0003667), SPASTIC PARAPLEGIA(HP:0001258), SPHINCTER DISTURBANCES (BLADDER)(HP:0002839), HETEROGENEOUS(HP:0001425), BABINSKI SIGN(HP:0003487), LOWER LIMB MUSCLE WEAKNESS(HP:0007340), TREMOR(HP:0001337), DECREASED VIBRATORY SENSE IN THE LOWER LIMBS(HP:0002166), CLONUS(HP:0002169), INSIDIOUS ONSET(HP:0003587)]
124583	CANT1	[TRIANGULAR SHAPED PHALANGES OF THE HAND(HP:0009774), MALAR HYPOPLASIA(HP:0000272), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPLASTIC/SHORT 1ST METACARPAL(HP:0010034), ROUND FACE(HP:0000311), JOINT LAXITY(HP:0001388), KYPHOSIS(HP:0002808), COXA VARA(HP:0002812), HYPOPLASIA INVOLVING BONES OF THE EXTREMITIES(HP:0009826), PARTIAL DUPLICATION OF THE DISTAL PHALANX OF THE HALLUX(HP:0010097), MEDIAL DEVIATION OF THE FOOT(HP:0008082), METAPHYSEAL WIDENING(HP:0003016), ADVANCED TARSAL OSSIFICATION(HP:0008108), SHORT STATURE, DISPROPORTIONATE(HP:0003498), BROAD 1ST METATARSAL(HP:0010068), SHORT LIMB DWARFISM(HP:0003505), ACCELERATED SKELETAL MATURATION(HP:0005616), RADIOULNAR DISLOCATION(HP:0006439), OSTEOPOROSIS(HP:0000939), BIFID DISTAL PHALANX OF THE THUMB(HP:0009611), ADVANCED MATURATION/ADVANCED OSSIFICATION OF CARPAL BONES(HP:0004233), MUSCULAR HYPOTONIA(HP:0001252), MENTAL RETARDATION(HP:0001249), FLAT ACETABULAR ROOFS(HP:0003180), OBESITY(HP:0001513), ABNORMALITY OF THE EYES(HP:0000478), COXA VALGA(HP:0002673), PROXIMAL FIBULAR OVERGROWTH(HP:0005067), PHALANGEAL DISLOCATIONS(HP:0006243), ABNORMALITY OF THE THORAX(HP:0000765), SCOLIOSIS(HP:0002650)]
124590	USH1G	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HEARING LOSS, SENSORINEURAL(HP:0000407), NASAL BONE HYPOPLASIA(HP:0004646), RETINITIS PIGMENTOSA(HP:0000510), VESTIBULAR DYSFUNCTION(HP:0001751)]
126328	NDUFA11	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), CEREBRAL EDEMA(HP:0002181), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), HEPATIC FAILURE(HP:0001399), PSYCHOMOTOR REGRESSION(HP:0002489), INCREASED CSF LACTATE(HP:0002490), ABNORMAL MITOCHONDRIA ON MUSCLE BIOPSY(HP:0008316), PALE OPTIC DISKS(HP:0000543), BLINDNESS(HP:0000618), AMYOTROPHY(HP:0003202), NYSTAGMUS(HP:0000639), BABINSKI SIGN(HP:0003487), MUSCLE WEAKNESS(HP:0001324), HEARING LOSS, SENSORINEURAL(HP:0000407), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), SPASTICITY(HP:0001257), VOMITING(HP:0002013), FAILURE TO THRIVE(HP:0001508), ACUTE NECROTIZING ENCEPHALOPATHY(HP:0006965), HYPOREFLEXIA(HP:0001265), MACROCEPHALY, PROGRESSIVE(HP:0004481), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), X-LINKED DOMINANT INHERITANCE(HP:0001423), PTOSIS(HP:0000508), HYPOGLYCEMIA(HP:0001943), LACTIC ACIDEMIA(HP:0003128), LEUKODYSTROPHY(HP:0002415), STRABISMUS(HP:0000486)]
127534	GJB4	[PALMOPLANTAR KERATODERMA, PATCHY(HP:0005588), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HYPERKERATOSIS, GENERALIZED(HP:0005595), ONSET IN INFANCY(HP:0003576)]
128178	EDARADD	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANODONTIA(HP:0000674), INTOLERANCE TO HEAT AND FEVER(HP:0002046), MISSHAPEN TEETH(HP:0000697), MICRODONTIA(HP:0000691), PERIORBITAL HYPERPIGMENTATION(HP:0001106), FINE, SLOW-GROWING HAIR(HP:0004781), FRONTAL BOSSING(HP:0002007), FLATTENED NASAL BRIDGE(HP:0000425), HYPODONTIA(HP:0000668), PROMINENT LIPS(HP:0000184), SPARSE EYEBROWS AND EYELASHES(HP:0002222), HYPOTRICHOSIS(HP:0001006), NAIL DYSPLASIA(HP:0002164), HYPOHIDROSIS(HP:0000966), PERIORBITAL WRINKLES(HP:0000607)]
128674	PROKR2	[CLEFT LIP(HP:0000204), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANOSMIA(HP:0000458), CLEFT PALATE(HP:0000175), HYPOGONADOTROPHIC HYPOGONADISM(HP:0000044), HYPOTELORISM(HP:0000601), UNILATERAL RENAL AGENESIS(HP:0000122)]
129880	BBS5	[HYPERTENSION(HP:0000822), DIABETES MELLITUS(HP:0000819), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), CATARACT(HP:0000518), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), ABNORMALITY OF THE KIDNEYS(HP:0000077), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), LEARNING DISABILITY(HP:0001328), BILIARY TRACT ABNORMALITY(HP:0001080), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), HYPOGONADISM(HP:0000135), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), OBESITY(HP:0001513), CLINODACTYLY OF HANDS(HP:0001157), POOR COORDINATION(HP:0002370), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), HIRSUTISM(HP:0001007), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
131118	DNAJC19	[DILATED CARDIOMYOPATHY(HP:0001644), SUDDEN CARDIAC DEATH(HP:0001645), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONGESTIVE HEART FAILURE(HP:0001635), PROLONGED QT INTERVAL ON EKG(HP:0001657), CRYPTORCHIDISM(HP:0000028), NORMOCHROMIC ANEMIA(HP:0001895), CEREBELLAR ATAXIA(HP:0001253), OPTIC ATROPHY(HP:0000648), HYPOSPADIAS(HP:0000047), CEREBELLAR ATAXIA, NONPROGRESSIVE(HP:0002470), PRENATAL GROWTH DEFICIENCY(HP:0001515), MENTAL RETARDATION, BORDERLINE-MILD(HP:0007119), POSTNATAL GROWTH FAILURE(HP:0008865), MICROVESICULAR STEATOSIS(HP:0001414), 3-METHYLGLUTARIC ACIDURIA(HP:0003344), NORMOCHROMIC MICROCYTIC ANEMIA(HP:0004856), DECREASED TESTICULAR SIZE(HP:0008734), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
131669	UROC1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED BODY HEIGHT(HP:0004322), BLUE IRIDES(HP:0000635), METABOLISM ABNORMALITY(HP:0001939), AGGRESSIVE BEHAVIOR(HP:0000718), BLOND HAIR(HP:0002214), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
132884	EVC2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CRYPTORCHIDISM(HP:0000028), EPISPADIAS(HP:0000039), HYPOSPADIAS(HP:0000047), NARROW CHEST(HP:0000774), SHORT RIBS(HP:0000773), ATRIAL SEPTAL DEFECT(HP:0001631), PECTUS CARINATUM(HP:0000768), DANDY-WALKER MALFORMATION(HP:0001305), POSTAXIAL POLYDACTYLY FINGERS/TOES(HP:0004698), SHORT-LIMB DWARFISM IDENTIFIABLE AT BIRTH(HP:0001536), RENAL TUBULAR DYSFUNCTION(HP:0000124), TALIPES EQUINOVARUS(HP:0001762), DELAYED DENTITION(HP:0000684), GENU VALGUM(HP:0002857), NEONATAL TEETH(HP:0000695), CAPITATE-HAMATE FUSION(HP:0001241), MENTAL RETARDATION(HP:0001249), HYPODONTIA(HP:0000668), SHORT, THICKENED TUBULAR BONES(HP:0005029), CONE-SHAPED EPIPHYSES OF PHALANGES 2 TO 5(HP:0006035), NAIL DYSPLASIA(HP:0002164), ABNORMALITY OF THE PELVIS(HP:0002644), ABNORMALITY OF THE ALVEOLAR RIDGES(HP:0006477)]
136647	C7orf11	[ABNORMALITY OF HAIR TEXTURE(HP:0010719), MENTAL RETARDATION(HP:0001249), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
137682	C8orf38	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), SPASTICITY(HP:0001257), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), NYSTAGMUS(HP:0000639), HYPERTRICHOSIS(HP:0000998), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), DYSTONIA(HP:0001332), INCREASED SERUM LACTATE(HP:0002151), OPHTHALMOPLEGIA(HP:0000602), DEMYELINATION(HP:0003381)]
137814	NKX2-6	[DOUBLE OUTLET RIGHT VENTRICLE(HP:0001719), METABOLISM ABNORMALITY(HP:0001939), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
138050	HGSNAT	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILDLY COARSE FACIES(HP:0000281), DYSOSTOSIS MULTIPLEX(HP:0000943), SEVERE BEHAVIORAL PROBLEMS AT AGE 3-4(HP:0002456), SEIZURES(HP:0001250), MILD HEPATOMEGALY(HP:0001398), DIARRHEA(HP:0002014), FREQUENT UPPER RESPIRATORY TRACT INFECTIONS(HP:0001740), MILD SPLENOMEGALY(HP:0001745), SYNOPHRYS(HP:0000664), GROWTH ABNORMALITY(HP:0001507), SLEEP DISTURBANCES(HP:0002360), OVOID THORACOLUMBAR VERTEBRAE(HP:0003309), THICKENED RIBS(HP:0000900), COARSE HAIR(HP:0002208), METACHROMASIA OF WHITE BLOOD CELLS AND FIBROBLASTS(HP:0003653), HIRSUTISM(HP:0001007), HYPERACTIVITY(HP:0000752), ASYMMETRIC SEPTAL HYPERTROPHY(HP:0001670), SLOWING MENTAL DEVELOPMENT BY 1.5 TO 3 YEARS OF AGE(HP:0002402), MILD JOINT STIFFNESS(HP:0003033), DENSE CALVARIA(HP:0000250), HEARING LOSS(HP:0000365), HEPARAN SULFATE EXCRETION IN URINE(HP:0002159)]
139285	FAM123B	[PATENT DUCTUS ARTERIOSUS(HP:0001643), MULTICYSTIC KIDNEY(HP:0000003), FIBULAR APLASIA(HP:0002990), SHORT FIBULAE(HP:0002985), EPICANTHUS(HP:0000286), MACROCEPHALY(HP:0000256), ABNORMALITY OF THE LARYNX(HP:0001600), BITEMPORAL NARROWING(HP:0000314), HYPERTELORISM(HP:0000316), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), BROAD RIBS(HP:0000885), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), PARTIAL AGENESIS OF THE CORPUS CALLOSUM(HP:0001338), LOW-SET EARS(HP:0000369), OMPHALOCELE(HP:0001539), POSTERIORLY ROTATED EARS(HP:0000358), POLYHYDRAMNIOS(HP:0001561), OLIGOHYDRAMNIOS(HP:0001562), WIDE INTERMAMILLARY DISTANCE(HP:0006610), TALIPES EQUINOVARUS(HP:0001762), SMALL EARS(HP:0000409), THORACOLUMBAR KYPHOSIS(HP:0005619), CAMPTODACTYLY (HANDS)(HP:0010563), HEARING LOSS, CONDUCTIVE(HP:0000405), DELAYED CLOSURE OF THE ANTERIOR FONTANELLE(HP:0001476), OVERFOLDED HELICES(HP:0000396), NEONATAL TEETH(HP:0000695), DENTAL MALOCCLUSION(HP:0000689), MUSCULAR HYPOTONIA(HP:0001252), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), FRONTAL BOSSING(HP:0002007), MENTAL RETARDATION(HP:0001249), APNEA(HP:0002104), INTESTINAL MALROTATION(HP:0002566), BROAD NASAL BRIDGE(HP:0000431), CLEFT LIP(HP:0000204), PIERRE-ROBIN SEQUENCE(HP:0000201), BIFID UVULA(HP:0000193), WEBBED NECK(HP:0000465), X-LINKED DOMINANT INHERITANCE(HP:0001423), MICROGNATHIA(HP:0000210), LARGE FONTANELLES(HP:0000239), HYDROCEPHALUS(HP:0000238), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462)]
140803	TRPM6	[HYPOMAGNESEMIA(HP:0002917), SEIZURES(HP:0001250), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOCALCEMIA(HP:0002901), TETANY(HP:0001281), ONSET IN INFANCY(HP:0003576)]
142680	SLC34A3	[RICKETS(HP:0002748), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CURVATURES OF THE FEMUR, TIBIA, FIBULA(HP:0002976), BOWING OF THE LEGS(HP:0002979), HYPOPHOSPHATEMIC RICKETS(HP:0004912), ONSET IN INFANCY OR EARLY CHILDHOOD(HP:0003579), DEFORMED RIB CAGE(HP:0000886), 'BULGING' OF THE COSTOCHONDRAL JUNCTION(HP:0000893), FRAYED, IRREGULAR METAPHYSES(HP:0003017), ENLARGEMENT OF THE WRISTS(HP:0003020), 'BULGING' EPIPHYSES(HP:0003013), DECREASED RENAL TUBULAR PHOSPHATE REABSORPTION(HP:0000117), MUSCLE WEAKNESS(HP:0001324), CALCIUM NEPHROLITHIASIS(HP:0004724), THIN BONY CORTEX(HP:0002753), SPARSE BONE TRABECULAE(HP:0002752), RENAL TUBULAR DYSFUNCTION(HP:0000124), RECURRENT FRACTURES(HP:0002757), ENLARGEMENT OF THE ANKLES(HP:0003029), DIFFICULTY STANDING(HP:0003698), INCREASED SERUM 1,25-DIHYDROXYVITAMIN D3(HP:0003152), ELEVATED ALKALINE PHOSPHATASE(HP:0003155), ENLARGED EPIPHYSES(HP:0010580), MUSCULAR HYPOTONIA(HP:0001252), FRONTAL BOSSING(HP:0002007), ENLARGEMENT OF THE COSTOCHONDRAL JUNCTION(HP:0000920), FAILURE TO THRIVE(HP:0001508), DIFFICULTY WALKING(HP:0002355), WIDELY PATENT FONTANELS AND SUTURES(HP:0004492), ABNORMALITY OF THE ABDOMEN(HP:0001438), LATE OSSIFYING EPIPHYSES(HP:0002663), BONE PAIN(HP:0002653), HYPERCALCIURIA(HP:0002150), POSTERIOR FLATTENING OF THE SKULL(HP:0000247), USUALLY AUTOSOMAL DOMINANT(HP:0001455)]
145173	B3GALTL	[PULMONIC STENOSIS(HP:0001642), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOPLASTIC UTERUS(HP:0000013), CRYPTORCHIDISM(HP:0000028), CATARACT(HP:0000518), HYPOSPADIAS(HP:0000047), FACIAL HYPERTRICHOSIS(HP:0002219), VENTRICULAR SEPTAL DEFECT(HP:0001629), ATRIAL SEPTAL DEFECT(HP:0001631), HYPOPLASTIC LABIA MAJORA(HP:0000059), HYPOPLASTIC CLITORIS(HP:0000060), IRIS COLOBOMA(HP:0000612), PREAURICULAR SINUS(HP:0004467), EXAGGERATED CUPID'S BOW UPPER LIP(HP:0002263), URETERAL DUPLICATION(HP:0000073), NYSTAGMUS(HP:0000639), UPSLANTING PALPEBRAL FISSURES(HP:0000582), DIASTASIS RECTI(HP:0001540), UMBILICAL HERNIA(HP:0001537), BILIARY TRACT ABNORMALITY(HP:0001080), POLYHYDRAMNIOS(HP:0001561), HYDRONEPHROSIS(HP:0000126), WIDE INTERMAMILLARY DISTANCE(HP:0006610), PES CAVUS(HP:0001761), DISPROPORTIONATE SHORT-LIMB DWARFISM(HP:0008928), CEREBRAL ATROPHY(HP:0002059), ABSENT UPPER LATERAL INCISORS(HP:0000690), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), AGENESIS OF CORPUS CALLOSUM(HP:0001274), PETERS ANOMALY(HP:0000659), CLEFT LIP(HP:0000204), SHORT LINGUAL FRENULUM(HP:0000200), SYNDACTYLY(HP:0001159), VENTRICULOMEGALY(HP:0002119), PECTUS EXCAVATUM(HP:0000767), MICROGNATHIA(HP:0000210), HYDROCEPHALUS(HP:0000238), ABNORMALITY OF THE PELVIS(HP:0002644), THIN VERMILLION BORDER(HP:0000233), SCOLIOSIS(HP:0002650), MICROCEPHALY(HP:0000252), CRANIOSYNOSTOSIS(HP:0001363), MENTAL RETARDATION, MILD TO SEVERE(HP:0002458), MACROCEPHALY(HP:0000256), WIDE ANTERIOR FONTANEL(HP:0000260), LIMITED ELBOW MOVEMENT(HP:0002996), ROUND FACE(HP:0000311), BIRTH LENGTH <3RD PERCENTILE(HP:0003561), HYPERTELORISM(HP:0000316), SMALL, MALFORMED EARS(HP:0008569), JOINT LAXITY(HP:0001388), RHIZOMELIC SHORTENING(HP:0002968), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), LONG PHILTRUM(HP:0000343), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), WEIGHT LESS THAN 3RD PERCENTILE(HP:0001826), ABNORMALLY POINTED UPPER LATERAL INCISORS(HP:0006345), HYPOPLASTIC/SHORT METACARPAL BONES(HP:0010049), TRANSVERSE PALMAR CREASES(HP:0000954), PROMINENT EARS(HP:0000412), PROXIMALLY PLACED THUMB(HP:0009623), STENOTIC EXTERNAL AUDITORY CANAL(HP:0000402), VERTEBRAL SEGMENTATION DEFECTS(HP:0003422), FEEDING DIFFICULTIES(HP:0002022), FRONTAL BOSSING(HP:0002007), INTRAUTERINE GROWTH RETARDATION(HP:0001511), BROAD NECK(HP:0000475), ANTERIOR CHAMBER CLEAVAGE DISORDER(HP:0007700), WEBBED NECK(HP:0000465), HEMIVERTEBRAE(HP:0002937), PTOSIS(HP:0000508), GLAUCOMA(HP:0000501), RETINAL COLOBOMA(HP:0000480)]
145282	MIPOL1	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), SYNDACTYLY(HP:0001159), POLYDACTYLY (HANDS)(HP:0001161), ABNORMALITY OF THE FACE(HP:0000271), ABSENT OSSIFICATION/ABSENCE OF RADIUS(HP:0003974)]
146057	TTBK2	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073), DYSARTHRIA(HP:0001260), NYSTAGMUS(HP:0000639), HYPERREFLEXIA(HP:0001347), CEREBELLAR ATROPHY(HP:0001272)]
146059	CDAN1	[INEFFECTIVE ERYTHROPOIESIS(HP:0005553), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ENDOPOLYPLOIDY ON CHROMOSOME STUDIES OF BONE MARROW(HP:0003352), HYDROPS FETALIS(HP:0001789), NEONATAL JAUNDICE(HP:0000986), GROWTH RETARDATION, MILD(HP:0001530), MACROCYTIC DYSERYTHROPOIETIC ANEMIA(HP:0005532), DEFICIENT N-ACETYLGLUCOSAMINYLTRANSFERASE II(HP:0003655)]
146227	BEAN	[GAIT ATAXIA(HP:0002066), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), LIMB ATAXIA(HP:0002070), CEREBELLAR ATAXIA, SLOWLY PROGRESSIVE(HP:0002496), SPINOCEREBELLAR ATAXIA(HP:0002513), SPINOCEREBELLAR ATROPHY(HP:0007263), GAZE-EVOKED HORIZONTAL NYSTAGMUS(HP:0007979), DYSARTHRIA(HP:0001260), EARLY ONSET(HP:0003593), ONSET IN ADULTHOOD(HP:0003581), LATE ONSET(HP:0003584), HEARING LOSS, SENSORINEURAL, MILD-TO MODERATE(HP:0008614)]
147138	TMC8	[METABOLISM ABNORMALITY(HP:0001939), BASAL CELL CARCINOMA(HP:0002671)]
147372	CCBE1	[DELAYED SKELETAL MATURATION(HP:0002750), PLEURAL EFFUSION(HP:0002202), MALAR HYPOPLASIA(HP:0000272), RETROGNATHIA(HP:0000278), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), EPICANTHUS(HP:0000286), CRYPTORCHIDISM(HP:0000028), IMMUNOLOGICAL ABNORMALITY(HP:0002715), PLEURAL LYMPHANGIECTASIA(HP:0006531), HYPERTELORISM(HP:0000316), FLAT PHILTRUM(HP:0000319), VENTRICULAR SEPTAL DEFECT(HP:0001629), SPINA BIFIDA OCCULTA(HP:0003298), ATRIAL SEPTAL DEFECT(HP:0001631), BROAD FOREHEAD(HP:0000337), VESICOURETERAL REFLUX(HP:0000076), BILATERAL SINGLE PALMAR CREASES(HP:0007598), HORSESHOE KIDNEY(HP:0000085), ECTOPIC KIDNEY(HP:0000086), PERICARDIAL LYMPHANGIECTASIA(HP:0005183), ERYSIPELAS(HP:0001055), PROTEIN-LOSING ENTEROPATHY(HP:0002243), LOW-SET EARS(HP:0000369), THYROID LYMPHANGIECTASIA(HP:0008229), UMBILICAL HERNIA(HP:0001537), CORONAL CRANIOSYNOSTOSIS(HP:0004440), HYDRONEPHROSIS(HP:0000126), TALIPES EQUINOVARUS(HP:0001762), DELAYED DENTITION(HP:0000684), RECTAL PROLAPSE(HP:0002035), CAMPTODACTYLY (HANDS)(HP:0010563), SMALL FEET(HP:0001764), OLIGODONTIA(HP:0000677), HEARING LOSS, SENSORINEURAL(HP:0000407), PEG-SHAPED INCISORS(HP:0000673), HEARING LOSS, CONDUCTIVE(HP:0000405), INTESTINAL LYMPHANGIECTASIA(HP:0002593), HYPOPLASTIC ILIAC WINGS(HP:0002866), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), MICROSTOMIA(HP:0000160), GROWTH RETARDATION, MILD(HP:0001530), FLAT, BROAD NASAL BRIDGE(HP:0000439), NARROW PALATE(HP:0000189), PERICARDIAL EFFUSION(HP:0001698), SMALL HANDS(HP:0001165), GINGIVAL HYPERTROPHY(HP:0000195), PECTUS EXCAVATUM(HP:0000767), LYMPHEDEMA(HP:0001004), HIRSUTISM(HP:0001007), HYPOALBUMINEMIA(HP:0003073), HYPERACTIVITY(HP:0000752), GLAUCOMA(HP:0000501), SCOLIOSIS(HP:0002650), CUTANEOUS SYNDACTYLY OF THE FINGERS(HP:0010554)]
149461	CLDN19	[TAPETORETINAL DEGENERATION(HP:0000547), HYPOMAGNESEMIA(HP:0002917), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), RECURRENT URINARY TRACT INFECTIONS(HP:0000010), RENAL MAGNESIUM WASTING(HP:0005567), MACULAR COLOBOMA(HP:0001116), NYSTAGMUS(HP:0000639), KIDNEY STONES(HP:0000787), PROGRESSIVE RENAL INSUFFICIENCY(HP:0000106), HYPERCALCIURIA(HP:0002150), NEPHROCALCINOSIS(HP:0000121)]
149775	GNASAS	[ELEVATED SERUM PARATHYROID HORMONE (PTH) LEVEL(HP:0003165), ABNORMALITY OF THE MUSCULOSKELETAL SYSTEM(HP:0000924), LOW URINARY CYCLIC AMP RESPONSE TO PTH ADMINISTRATION(HP:0003456), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PSEUDOHYPOPARATHYROIDISM(HP:0000852), HYPOCALCEMIA(HP:0002901), HYPERPHOSPHATEMIA(HP:0002905), ISOLATED CASES(HP:0001420)]
153201	SLC36A2	[ABNORMALITY OF THE EYES(HP:0000478), KIDNEY STONES(HP:0000787), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), MENTAL RETARDATION(HP:0001249), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYDROXYPROLINURIA(HP:0003080), GLYCINURIA(HP:0002931), PROLINURIA(HP:0003137), HYPERGLYCINURIA(HP:0003108)]
153562	MARVELD2	[DEAFNESS, PRELINGUAL, PROFOUND (AFFECTS ALL FREQUENCIES)(HP:0001731), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
154881	KCTD7	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), TRUNCAL ATAXIA(HP:0002078), MYOCLONIC SEIZURES(HP:0002123), AGE OF ONSET(HP:0003674), ABNORMALITY OF CARDIAC CONDUCTION(HP:0001665), PROGRESSIVE DISORDER(HP:0003676), MENTAL RETARDATION(HP:0001249), DYSARTHRIA(HP:0001260), EPILEPSY(HP:0001275)]
157570	ESCO2	[PATENT DUCTUS ARTERIOSUS(HP:0001643), ELBOW CONTRACTURES(HP:0002987), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CRANIOSYNOSTOSIS(HP:0001363), KNEE CONTRACTURES(HP:0002978), AORTIC STENOSIS(HP:0001650), BICORNUATE UTERUS(HP:0000813), HIP CONTRACTURES(HP:0003273), CRYPTORCHIDISM(HP:0000028), HYPOPLASTIC/SMALL THUMB(HP:0009778), MICROPHTHALMOS(HP:0000568), CATARACT(HP:0000518), CORNEAL CLOUDING(HP:0000515), ENLARGED PENIS(HP:0000040), HYPOSPADIAS(HP:0000047), HYPERTELORISM(HP:0000316), STILLBIRTH(HP:0001624), VENTRICULAR SEPTAL DEFECT(HP:0001629), CRANIAL NERVE PARALYSIS(HP:0006824), ATRIAL SEPTAL DEFECT(HP:0001631), CLITOROMEGALY(HP:0000057), PROMINENT EYES(HP:0000536), SPARSE HAIR(HP:0008070), FRONTAL ENCEPHALOCELE(HP:0007330), HORSESHOE KIDNEY(HP:0000085), EYELID, CLEFT(HP:0000625), LOW-SET EARS(HP:0000369), SHALLOW ORBITS(HP:0000586), BLUE SCLERAE(HP:0000592), POSTERIORLY ROTATED EARS(HP:0000358), BILIARY TRACT ABNORMALITY(HP:0001080), POLYHYDRAMNIOS(HP:0001561), POLYCYSTIC KIDNEY(HP:0000113), ABSENCE OF RADIUS AND ULNA(HP:0005012), TALIPES EQUINOVALGUS(HP:0001772), WRIST CONTRACTURES(HP:0001239), LOBELESS EARS(HP:0000387), CLEFT PALATE(HP:0000175), SEIZURES(HP:0001250), MENTAL RETARDATION(HP:0001249), DEVELOPMENTAL RETARDATION(HP:0001263), SEVERE PRENATAL GROWTH DEFICIENCY(HP:0008899), INTRAUTERINE GROWTH RETARDATION(HP:0001511), ACCESSORY SPLEEN(HP:0001747), ENLARGED LABIA MINORA(HP:0008683), BROAD NASAL BRIDGE(HP:0000431), HYPOPLASTIC NASAL ALAE(HP:0000430), CLEFT LIP(HP:0000204), CLINODACTYLY OF HANDS(HP:0001157), SYNDACTYLY(HP:0001159), SHORT NECK(HP:0000470), DECREASED BODY HEIGHT(HP:0004322), OLIGODACTYLY (HANDS)(HP:0001180), PREMATURE SEPARATION OF CENTROMERIC HETEROCHROMATIN(HP:0003616), MICROGNATHIA(HP:0000210), HYDROCEPHALUS(HP:0000238), MILD-SEVERE POSTNATAL GROWTH DEFICIENCY(HP:0008844), WORMIAN BONES(HP:0002645), CONTRACTURES OF THE ANKLES(HP:0006466), MICROCEPHALY(HP:0000252), MIDFACE CAPILLARY HEMANGIOMA(HP:0007452), BRACHYCEPHALY(HP:0000248)]
157680	VPS13B	[DELAYED PUBERTY(HP:0000823), MILD THORACIC SCOLIOSIS(HP:0004615), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOPIA(HP:0000545), MITRAL VALVE PROLAPSE(HP:0001634), LARGE CORPUS CALLOSUM(HP:0006805), GROWTH HORMONE DEFICIENCY(HP:0000824), THICK EYEBROWS(HP:0000574), CHORIORETINAL DYSTROPHY(HP:0001135), LEUKOPENIA(HP:0001882), LARYNGOMALACIA(HP:0001601), HIGH, NARROW PALATE(HP:0002705), CUBITUS VALGUS(HP:0002967), HYPOPLASIA OF THE METATARSAL BONES(HP:0010743), JOINT HYPERMOBILITY(HP:0001382), HYPOPLASIA OF THE MAXILLA(HP:0000327), SHORT PHILTRUM(HP:0000322), MILD MICROGNATHIA(HP:0000330), NEONATAL HYPOTONIA(HP:0001319), PES PLANUS(HP:0001763), TRANSVERSE PALMAR CREASES(HP:0000954), PROMINENT UPPER CENTRAL INCISORS(HP:0000675), GENU VALGUM(HP:0002857), NARROW HAND(HP:0004283), FEEDING DIFFICULTIES(HP:0002022), BEAKED NOSE(HP:0000444), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), PROMINENT NASAL BRIDGE(HP:0000426), LOW BIRTH WEIGHT(HP:0001518), DELAYED MOTOR MILESTONES(HP:0002130), TRUNCAL OBESITY DEVELOPING IN MID-CHILDHOOD(HP:0008874), MILD SHORTENING OF METACARPALS(HP:0006047), DECREASED BODY HEIGHT(HP:0004322), LUMBAR HYPERLORDOSIS(HP:0002938), TAPERED FINGERS(HP:0001182), IMPAIRED VISION(HP:0000505), MICROCEPHALY(HP:0000252), DOWNWARD SLANTING PALPEBRAL FISSURES(HP:0000494)]
162417	NAGS	[COGNITIVE IMPAIRMENT(HP:0002128), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CONFUSION(HP:0001289), VARIABLE PHENOTYPE(HP:0003813), ONSET IN NEONATAL PERIOD(HP:0003623), LETHARGY(HP:0001254), RESPIRATORY DISTRESS(HP:0002098), SEIZURES(HP:0001250), AGGRESSIVE BEHAVIOR(HP:0000718), COMA(HP:0001259), VOMITING(HP:0002013), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508), EARLY ONSET(HP:0003593)]
164656	TMPRSS6	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IRON DEFICIENCY ANEMIA(HP:0001891), ABNORMALITY OF THE ABDOMEN(HP:0001438)]
166379	BBS12	[HYPERTENSION(HP:0000822), DIABETES MELLITUS(HP:0000819), MYOPIA(HP:0000545), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), RETINAL DYSTROPHY(HP:0000556), MACROCEPHALY(HP:0000256), CATARACT(HP:0000518), HEPATIC FIBROSIS(HP:0001395), MICROPENIS(HP:0000054), ABNORMALITY OF THE KIDNEYS(HP:0000077), CONGENITAL MEGACOLON(HP:0002251), POLYDACTYLY (FEET)(HP:0001829), NYSTAGMUS(HP:0000639), NEPHROGENIC DIABETES INSIPIDUS(HP:0009806), LEARNING DISABILITY(HP:0001328), BILIARY TRACT ABNORMALITY(HP:0001080), HEARING LOSS(HP:0000365), DECREASED TESTICULAR SIZE(HP:0008734), ABNORMALITY OF THE OVARIES(HP:0000137), DENTAL OVERCROWDING(HP:0000678), HYPOGONADISM(HP:0000135), SHORT, BROAD FEET(HP:0001773), HIGH-ARCHED PALATE(HP:0000156), VAGINAL ATRESIA(HP:0000148), ASTHMA(HP:0002099), ATAXIA(HP:0001251), DEVELOPMENTAL RETARDATION(HP:0001263), HYPODONTIA(HP:0000668), MENTAL DEFICIENCY(HP:0001267), OBESITY(HP:0001513), CLINODACTYLY OF HANDS(HP:0001157), POOR COORDINATION(HP:0002370), BRACHYDACTYLY(HP:0001156), SYNDACTYLY(HP:0001159), CONGENITAL PRIMARY APHAKIA(HP:0007707), GAIT IMBALANCE(HP:0002141), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), SPEECH DELAY(HP:0002117), HIRSUTISM(HP:0001007), LEFT VENTRICULAR HYPERTROPHY(HP:0001712), NEUROLOGICAL SPEECH IMPAIRMENT(HP:0002167), RETINITIS PIGMENTOSA(HP:0000510), GLAUCOMA(HP:0000501), BEHAVIOURAL/PSYCHIATRIC ABNORMALITY(HP:0000708), STRABISMUS(HP:0000486), ASTIGMATISM(HP:0000483)]
166785	MMAA	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED ADENOSYLCOBALAMIN (ADOCBL)(HP:0003145), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), RESPIRATORY DISTRESS(HP:0002098), MUSCULAR HYPOTONIA(HP:0001252), SEIZURES(HP:0001250), NEUTROPENIA(HP:0001875), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), PANCYTOPENIA(HP:0001876), VOMITING(HP:0002013), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508), ONSET IN INFANCY(HP:0003576), METHYLMALONIC ACIDEMIA(HP:0002912), DECREASED METHYLMALONYL-COA MUTASE ACTIVITY(HP:0003210), HEPATOMEGALY(HP:0002240), METABOLIC ACIDOSIS(HP:0001942), TREMOR(HP:0001337), KETOSIS(HP:0001946), DEHYDRATION(HP:0001944), HYPERGLYCINEMIA(HP:0002154)]
170302	ARX	[MUSCULAR HYPOTONIA OF THE TRUNK(HP:0008936), JOINT CONTRACTURES(HP:0001372), LARGE EYES(HP:0001090), MICROCEPHALY, ACQUIRED(HP:0000259), LOWER LIMB SPASTICITY(HP:0002061), CRYPTORCHIDISM(HP:0000028), HYPERREFLEXIA(HP:0001347), OPTIC ATROPHY(HP:0000648), FOCAL DYSTONIA(HP:0004373), DYSARTHRIA(HP:0001260), HYPOSPADIAS(HP:0000047), DYSPHAGIA(HP:0002015), BROAD ALVEOLAR RIDGES(HP:0000187), SYNOPHRYS(HP:0000664), CHOREOATHETOSIS(HP:0001266), HYPERTONIA(HP:0001276), AGENESIS OF CORPUS CALLOSUM(HP:0001274), DYSPNEA(HP:0002094), SPASTIC TETRAPLEGIA(HP:0002510), PROMINENT SUPRAORBITAL RIDGES(HP:0000336), INTRACTABLE SEIZURES(HP:0001303), SPEECH DELAY(HP:0002117), VENTRICULOMEGALY(HP:0002119), HYPSARRHYTHMIA(HP:0002521), X-LINKED RECESSIVE INHERITANCE(HP:0001419), HYPODYSPLASIA OF THE CORPUS CALLOSUM(HP:0006849), TAPERED FINGERS(HP:0001182), RENAL DYSPLASIA(HP:0000110), LIMB CONTRACTURES(HP:0003121), SCOLIOSIS(HP:0002650), HYPERCONVEX NAILS(HP:0001795)]
197131	UBR1	[HYPOTHYROIDISM(HP:0000821), DELAYED SKELETAL MATURATION(HP:0002750), HYPOPLASTIC DECIDUOUS TEETH(HP:0006334), DIABETES MELLITUS(HP:0000819), MIDLINE SKIN DIMPLES OVER ANTERIOR/POSTERIOR FONTANELLES(HP:0005498), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ABSENT LACRIMAL PUNCTA(HP:0001092), MICROCEPHALY, MILD(HP:0001366), SKULL DEFECT(HP:0001362), DEATH IN CHILDHOOD(HP:0003819), CRYPTORCHIDISM(HP:0000028), FRONTAL HAIR UPSWEEP(HP:0002236), APLASIA CUTIS CONGENITA OF SCALP(HP:0007385), HYPOSPADIAS(HP:0000047), JOINT LAXITY(HP:0001388), VENTRICULAR SEPTAL DEFECT(HP:0001629), MICROPENIS(HP:0000054), ATRIAL SEPTAL DEFECT(HP:0001631), CLITOROMEGALY(HP:0000057), COLON DIVERTICULA(HP:0002253), ABNORMALITY OF THE NAILS(HP:0001597), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), ANTERIORLY PLACED ANUS(HP:0001545), URETHROVAGINAL FISTULAE(HP:0008716), HYPOPLASTIC NIPPLES(HP:0002557), ABSENCE OF PERMANENT TEETH(HP:0006349), HYDRONEPHROSIS(HP:0000126), CAFE-AU-LAIT SPOTS(HP:0000957), TRANSVERSE PALMAR CREASES(HP:0000954), RECTOVAGINAL FISTULA(HP:0000143), BLONDE, SPARSE SCALP HAIR(HP:0004542), HEARING LOSS, SENSORINEURAL(HP:0000407), ANAL ATRESIA(HP:0002023), MALABSORPTION(HP:0002024), MUSCULAR HYPOTONIA(HP:0001252), BEAKED NOSE(HP:0000444), MENTAL RETARDATION(HP:0001249), EXOCRINE PANCREATIC INSUFFICIENCY(HP:0001738), FAILURE TO THRIVE(HP:0001508), HYPOPLASTIC NASAL ALAE(HP:0000430), LOW BIRTH WEIGHT(HP:0001518), PRENATAL GROWTH DEFICIENCY(HP:0001515), SEPTATE VAGINA(HP:0001153), SITUS INVERSUS(HP:0001696), DECREASED BODY HEIGHT(HP:0004322), INCREASED PLASMA VLDL(HP:0003362), GENERALIZED EDEMA(HP:0007430), HYPOCALCEMIA(HP:0002901), STRABISMUS(HP:0000486)]
199713	NLRP7	[GENITOURINARY ABNORMALITY(HP:0000119), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007)]
200576	PIKFYVE	[SPECKLED CORNEAL DYSTROPHY(HP:0007962), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006)]
200942	KLHDC8B	[POLYCLONAL ELEVATION OF IGM(HP:0003459), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), IMPAIRED LYMPHOCYTE TRANSFORMATION WITH PHYTOHEMAGGLUTININ(HP:0003347)]
201163	FLCN	[TRANSITIONAL CELL CARCINOMA OF THE BLADDER(HP:0006740), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), INCOMPLETE PENETRANCE(HP:0003829), ABNORMALITY OF THE SKIN(HP:0000951), ABNORMALITY OF THE ABDOMEN(HP:0001438), HAIR ABNORMALITY(HP:0001595), ERYTHROCYTOSIS(HP:0001901), SPORADIC(HP:0003745), METABOLISM ABNORMALITY(HP:0001939), UTERINE LEIOMYOSARCOMA(HP:0002891), HEREDITARY NONPOLYPOSIS COLORECTAL CARCINOMA(HP:0006716), MULTIPLE TUMORS(HP:0003008), SPONTANEOUS PNEUMOTHORAX(HP:0002108), EARLY ONSET(HP:0003593), PAPILLARY RENAL CELL CARCINOMA(HP:0006766)]
203547	VMA21	[PROXIMAL MUSCLE WEAKNESS IN LOWER LIMBS(HP:0008994), X-LINKED RECESSIVE INHERITANCE(HP:0001419), DIFFICULTY CLIMBING STAIRS(HP:0003551), MYOPATHY(HP:0003198), SLOW PROGRESSION(HP:0003677), ABNORMALITY OF THE CARDIOVASCULAR SYSTEM(HP:0001626), INTEROSSEUS MUSCLE ATROPHY(HP:0007181), INCREASED SERUM CREATINE KINASE(HP:0002147), ONSET IN EARLY CHILDHOOD(HP:0003580)]
203859	ANO5	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CALF HYPERTROPHY(HP:0003703), PROXIMAL MUSCLE WEAKNESS(HP:0003701), BOWING OF THE LEGS(HP:0002979), ABNORMALITY OF THE MOUTH(HP:0000153), VARIABLE SEVERITY(HP:0003814), OSTEOPENIA(HP:0000938), SHOULDER GIRDLE MUSCLE WEAKNESS(HP:0003547), PROGRESSIVE DISORDER(HP:0003676), MYALGIA(HP:0003326), DIAPHYSEAL CORTICAL SCLEROSIS(HP:0005045), EMG SHOWS MYOPATHIC CHANGES(HP:0003322), MUSCULAR DYSTROPHY(HP:0003560), INCREASED CONNECTIVE TISSUE(HP:0009025), GENU VARUM(HP:0002970), GENU VARUS(HP:0003052), DIAPHYSEAL BOWING OF LONG BONES(HP:0005908), HIP GIRDLE MUSCLE WEAKNESS(HP:0008999), INCREASED SUSCEPTIBILITY TO FRACTURES(HP:0002659), METABOLISM ABNORMALITY(HP:0001939), FACIAL MUSCLE WEAKNESS, MILD(HP:0000353)]
219844	HYLS1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MICROPHTHALMOS(HP:0000568), HYPOSPADIAS(HP:0000047), STILLBIRTH(HP:0001624), VENTRICULAR SEPTAL DEFECT(HP:0001629), CLEFT IN SKULL BASE(HP:0009752), MIDLINE DEFECT OF THE NOSE(HP:0004122), DANDY-WALKER MALFORMATION(HP:0001305), HYPOPLASIA INVOLVING BONES OF THE UPPER LIMBS(HP:0009824), HYPOPLASTIC LARYNX(HP:0008749), PROXIMAL TIBIAL HYPOPOLASIA(HP:0006379), DYSPLASTIC ADRENAL GLANDS(HP:0008216), TRACHEAL STENOSIS(HP:0002777), LOW-SET EARS(HP:0000369), ABNORMAL CORTICAL GYRATION(HP:0002536), ABSENT SEPTUM PELLUCIDUM(HP:0001331), PARTIAL/COMPLETE DUPLICATION OF THE PHALANGES OF THE HALLUX(HP:0010066), ABNORMAL FORM OF EARS(HP:0000377), OMPHALOCELE(HP:0001539), AGENESIS OF THE DIAPHRAGM(HP:0008986), POLYHYDRAMNIOS(HP:0001561), SEVERE HYDROCEPHALUS(HP:0006882), HYDRONEPHROSIS(HP:0000126), BIFID UTERUS(HP:0000136), TALIPES EQUINOVARUS(HP:0001762), ABNORMALITY OF THE VAGINA(HP:0000142), CLEFT PALATE(HP:0000175), ABNORMAL LUNG LOBATION(HP:0002101), INTRAUTERINE GROWTH RETARDATION(HP:0001511), ACCESSORY SPLEEN(HP:0001747), AGENESIS OF CORPUS CALLOSUM(HP:0001274), CLEFT LIP(HP:0000204), BROAD NECK(HP:0000475), POSTAXIAL POLYDACTYLY (HANDS)(HP:0001162), ARRHINENCEPHALY(HP:0002139), PREAXIAL POLYDACTYLY (HANDS)(HP:0001177), MICROGNATHIA(HP:0000210), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), COMPLETE ATRIOVENTRICULAR CANAL(HP:0001674)]
256471	MFSD8	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), SPEECH DELAY(HP:0002117), VISUAL LOSS(HP:0000572), CEREBRAL ATROPHY(HP:0002059), MYOCLONIC SEIZURES(HP:0002123), ATAXIA(HP:0001251), OPTIC ATROPHY(HP:0000648), EEG ABNORMALITIES(HP:0002353), RETINOPATHY(HP:0000488), ONSET IN EARLY CHILDHOOD(HP:0003580), SLEEP DISTURBANCES(HP:0002360), CEREBELLAR ATROPHY(HP:0001272)]
259266	ASPM	[SLOPING FOREHEAD(HP:0000340), HETEROGENEOUS(HP:0001425), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MENTAL RETARDATION, MILD TO SEVERE(HP:0002458), SMALL CEREBRAL CORTEX(HP:0002472), SEIZURES(HP:0001250), MICROCEPHALY(HP:0000252), MENTAL RETARDATION, PROGRESSIVE(HP:0006887)]
261734	NPHP4	[ROTARY NYSTAGMUS(HP:0001583), HETEROGENEOUS(HP:0001425), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), END STAGE RENAL DISEASE(HP:0003774), INTERSTITIAL FIBROSIS(HP:0000129), POLYDIPSIA(HP:0001959), ANEMIA(HP:0001903), NEPHRONOPHTHISIS(HP:0000090), POLYURIA(HP:0000103), RETINITIS PIGMENTOSA(HP:0000510), AMBLYOPIA(HP:0000646), GROWTH RETARDATION(HP:0001510), SEVERE VISUAL IMPAIRMENT(HP:0001141), RENAL TUBULAR CELL ATROPHY WITH CORTICOMEDULLARY CYSTS(HP:0005578)]
283120	H19	[DELAYED SKELETAL MATURATION(HP:0002750), CAFE-AU-LAIT SPOTS(HP:0000957), CARDIOMEGALY(HP:0001640), ABNORMALITY OF THE FEET(HP:0001760), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), FASTING HYPOGLYCEMIA(HP:0003162), COARSE FACIAL FEATURES(HP:0000280), CARDIOMYOPATHY(HP:0001638), GROWTH HORMONE DEFICIENCY(HP:0000824), MACROGLOSSIA(HP:0000158), DELAYED CLOSURE OF FONTANELLES(HP:0000270), CRYPTORCHIDISM(HP:0000028), GONADOBLASTOMA(HP:0000150), PROMINENT OCCIPUT(HP:0000269), FRONTAL BOSSING(HP:0002007), HEPATOCELLULAR CARCINOMA(HP:0001402), DEVELOPMENTAL RETARDATION(HP:0001263), FIFTH DIGIT MIDDLE OR DISTAL PHALANGEAL HYPOPLASIA(HP:0006171), CRANIOFACIAL DISPROPORTION(HP:0005461), HEMIHYPERTROPHY(HP:0001528), HYPOSPADIAS(HP:0000047), SMALL, TRIANGULAR FACIES(HP:0004662), INTRAUTERINE GROWTH RETARDATION(HP:0001511), LOW BIRTH WEIGHT(HP:0001518), ADRENOCORTICAL CYTOMEGALY(HP:0008186), NEONATAL HYPOGLYCEMIA(HP:0001998), PANCREATIC HYPERPLASIA(HP:0006277), ABNORMALITY OF THE URETERS(HP:0000069), SOMATIC MUTATION(HP:0001428), CLINODACTYLY OF THE 5TH FINGER(HP:0004209), NEPHROBLASTOMA (WILMS TUMOR)(HP:0002667), SYMPHALANGISM OF THE 5TH FINGER(HP:0004218), HEPATOMEGALY(HP:0002240), MICROGNATHIA(HP:0000210), ISOLATED CASES(HP:0001420), LARGE FONTANELLES(HP:0000239), ABNORMALITY OF EXTERNAL FEATURES OF THE ABDOMEN(HP:0001462), HEPATOBLASTOMA(HP:0002884), DIASTASIS RECTI(HP:0001540), ADRENAL CARCINOMA(HP:0002889), OMPHALOCELE(HP:0001539), ENLARGED KIDNEYS(HP:0000105), SMALL FOR GESTATIONAL AGE INFANT(HP:0008862), BLUE SCLERAE(HP:0000592), ABNORMALITY OF THE EARS(HP:0000598), OVERGROWTH OF EXTERNAL GENITALIA(HP:0003247)]
283989	TSEN54	[PONTOCEREBELLAR HYPOPLASIA(HP:0007053), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), FEEDING DIFFICULTIES(HP:0002022), ABNORMAL VISUAL PURSUIT(HP:0008029), OPISTHOTONUS(HP:0002179), SEIZURES(HP:0001250), DEATH IN INFANCY(HP:0001522), DEVELOPMENTAL RETARDATION(HP:0001263), HYPERTONIA(HP:0001276), ONSET AT BIRTH(HP:0003577), INFANTILE ENCEPHALOPATHY(HP:0007105), AGITATION(HP:0000713), MYOCLONUS(HP:0001336), NEURONAL LOSS(HP:0002400), METABOLISM ABNORMALITY(HP:0001939), RESTLESSNESS(HP:0000711), MICROCEPHALY(HP:0000252), EXTRAPYRAMIDAL DYSKINESIA(HP:0007308)]
285362	SUMF1	[ICHTHYOSIS(HP:0000955), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MILDLY COARSE FACIES(HP:0000281), LEUKOCYTE GRANULATION ABNORMALITY(HP:0008264), DEAFNESS(HP:0000404), DYSOSTOSIS MULTIPLEX(HP:0000943), DEVELOPMENTAL RETARDATION(HP:0001263), LIMITED ELBOW EXTENSION(HP:0001377), INCREASED CSF PROTEIN(HP:0002922), STIPPLING OF THE EPIPHYSES(HP:0010655), HYDROCEPHALUS(HP:0000238), METABOLISM ABNORMALITY(HP:0001939), RAPID NEUROLOGIC DETERIORATION(HP:0007307), BROAD HALLUX(HP:0010055)]
285440	CYP4V2	[RETINAL DEGENERATION(HP:0000546), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MARGINAL CORNEAL DYSTROPHY(HP:0007880), CHOROIDAL VESSEL SCLEROSIS(HP:0007884), PROGRESSIVE NIGHT BLINDNESS(HP:0007675), CONSTRICTED VISUAL FIELDS(HP:0001133), HEMATOLOGICAL ABNORMALITY(HP:0001871)]
285489	DOK7	[SMALL, POSTERIORLY ROTATED EARS(HP:0008535), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CRYPTORCHIDISM(HP:0000028), IMMUNOLOGICAL ABNORMALITY(HP:0002715), HYPERTELORISM(HP:0000316), STILLBIRTH(HP:0001624), ONSET IN FIRST DECADE(HP:0003582), PROMINENT EYES(HP:0000536), PREMATURE BIRTH(HP:0001622), LONG PHILTRUM(HP:0000343), THIN RIBS(HP:0000883), ELBOW ANKYLOSIS(HP:0003070), SMALL CHEST(HP:0001590), MILDLY INCREASED SERUM CREATINE KINASE(HP:0003211), THIN, GRACILE LONG BONES(HP:0003060), PROXIMAL AMYOTROPHY(HP:0007126), WADDLING GAIT(HP:0002515), BLEPHAROPHIMOSIS(HP:0000581), ABSENT SEPTUM PELLUCIDUM(HP:0001331), CEREBELLAR HYPOPLASIA(HP:0001321), POLYHYDRAMNIOS(HP:0001561), TALIPES EQUINOVARUS(HP:0001762), CAMPTODACTYLY (HANDS)(HP:0010563), PROXIMAL MUSCLE WEAKNESS DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003399), MUSCLE CRAMPS(HP:0003394), NEUROGENIC MUSCLE ATROPHY(HP:0003702), HIGH-ARCHED PALATE(HP:0000156), RIGIDITY(HP:0002063), CLEFT PALATE(HP:0000175), MICROSTOMIA(HP:0000160), FLAT NASAL TIP(HP:0000437), INTRAUTERINE GROWTH RETARDATION(HP:0001511), LOW BIRTH WEIGHT(HP:0001518), PULMONARY HYPOPLASIA(HP:0002089), SHORT NECK(HP:0000470), ABNORMALITY OF THE ABDOMEN(HP:0001438), SMALL OR ABNORMAL PLACENTA(HP:0006266), CAVUM SEPTUM PELLUCIDUM(HP:0002389), CONGENITAL VERTICAL TALUS(HP:0010218), POLYMICROGYRIA(HP:0002126), MICROGNATHIA(HP:0000210), PTOSIS(HP:0000508), HYDROCEPHALUS(HP:0000238), ABNORMALITY OF THE PELVIS(HP:0002644), TELECANTHUS(HP:0000506), ULNAR DEVIATION OF THE HAND OR OF FINGERS OF THE HAND(HP:0001193), SHORT UMBILICAL CORD(HP:0001196), EASY FATIGABILITY(HP:0003388), GOWER SIGN(HP:0003391)]
285590	SH3PXD2B	[ANTERIOR CONCAVITY OF THORACIC VERTEBRAE(HP:0004611), BOWING OF THE LEGS(HP:0002979), LARGE EYES(HP:0001090), DELAYED CLOSURE OF FONTANELLES(HP:0000270), DENTAL MALOCCLUSION(HP:0000689), EXOPHTHALMOS(HP:0000645), CORTICAL IRREGULARITY(HP:0005731), HYPERTELORISM(HP:0000316), CARDIAC MALFORMATION(HP:0002564), GENU VARUM(HP:0002970), FULL CHEEKS(HP:0000293), SHORTENED BOWED LONG BONES(HP:0005647), GENU VARUS(HP:0003052), MICROGNATHIA(HP:0000210), GLAUCOMA(HP:0000501), METAPHYSEAL FLARING(HP:0003015)]
286077	FAM83H	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), ABNORMALITY OF THE TEETH(HP:0000164)]
326625	MMAB	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DECREASED ADENOSYLCOBALAMIN (ADOCBL)(HP:0003145), FEEDING DIFFICULTIES(HP:0002022), LETHARGY(HP:0001254), RESPIRATORY DISTRESS(HP:0002098), MUSCULAR HYPOTONIA(HP:0001252), NEUTROPENIA(HP:0001875), DEVELOPMENTAL RETARDATION(HP:0001263), COMA(HP:0001259), VOMITING(HP:0002013), PANCYTOPENIA(HP:0001876), HYPERAMMONEMIA(HP:0001987), FAILURE TO THRIVE(HP:0001508), METHYLMALONIC ACIDEMIA(HP:0002912), KETONURIA(HP:0002919), ONSET IN NEONATAL PERIOD(HP:0003623), DECREASED METHYLMALONYL-COA MUTASE ACTIVITY(HP:0003210), HEPATOMEGALY(HP:0002240), METABOLIC ACIDOSIS(HP:0001942), KETOSIS(HP:0001946), DEHYDRATION(HP:0001944), HYPERGLYCINEMIA(HP:0002154)]
340024	SLC6A19	[ABNORMALITY OF THE EYES(HP:0000478), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), DELAYED COGNITIVE DEVELOPMENT(HP:0006867), ABNORMALITY OF THE SKIN(HP:0000951), DECREASED BODY HEIGHT(HP:0004322), HYDROXYPROLINURIA(HP:0003080), ABNORMALITY OF THE MOUTH(HP:0000153), GLYCINURIA(HP:0002931), INTERMITTENT CEREBELLAR ATAXIA(HP:0006862), HYPERREFLEXIA(HP:0001347), PROLINURIA(HP:0003137), EMOTIONAL LABILITY(HP:0000712), KIDNEY STONES(HP:0000787), SEIZURES(HP:0001250), NEUTRAL HYPERAMINOACIDURIA(HP:0008353), PSYCHOSIS(HP:0000709), HYPERTONIA(HP:0001276), HYPERGLYCINURIA(HP:0003108)]
341640	FREM2	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), APLASIA/HYPOPLASIA OF THE PHALANGES OF THE HAND(HP:0009767), CRYPTORCHIDISM(HP:0000028), ABNORMALITY OF THE ANUS(HP:0004378), CRYPTOPHTHALMOS(HP:0001126), LARYNGEAL STENOSIS(HP:0001602), HYPOSPADIAS(HP:0000047), SUBGLOTTIC STENOSIS(HP:0001607), CARDIAC ABNORMALITY(HP:0001627), MICROPENIS(HP:0000054), ANOPHTHALMIA(HP:0000528), BILATERAL MICROPHTHALMOS(HP:0007633), CLITOROMEGALY(HP:0000057), BLINDNESS(HP:0000618), ABNORMALITY OF THE SMALL INTESTINE(HP:0002244), RENAL HYPOPLASIA(HP:0000089), UPPER EYELID COLOBOMA(HP:0000636), PARTIAL LARYNGEAL ATRESIA(HP:0005950), ABNORMALITY OF THE UMBILICUS(HP:0001551), ABSENT EYEBROWS AND EYELASHES(HP:0002288), WIDE INTERMAMILLARY DISTANCE(HP:0006610), DENTAL OVERCROWDING(HP:0000678), VAGINAL ATRESIA(HP:0000148), DENTAL MALOCCLUSION(HP:0000689), CLEFT PALATE(HP:0000175), HYPOPLASTIC NOSTRILS(HP:0004497), WIDE PUBIC SYMPHYSIS(HP:0003183), MENTAL DEFICIENCY(HP:0001267), ENCEPHALOCELE(HP:0002084), PULMONARY HYPOPLASIA(HP:0002089), DIFFICULTY IN TONGUE MOVEMENTS(HP:0000183), CLEFT LIP(HP:0000204), HYDROCEPHALUS(HP:0000238), MICROCEPHALY(HP:0000252), ABSENT OR MALFORMED LACRIMAL DUCTS(HP:0007993), SKULL DEFECT(HP:0001362), BICORNUATE UTERUS(HP:0000813), WHITE CORNEAL OPACIFICATION(HP:0007883), MENINGOMYELOCELE(HP:0002475), HYPERTELORISM(HP:0000316), MIDLINE NASAL GROOVE(HP:0004112), HYPOPLASTIC SUPERIOR HELIX(HP:0008559), BROAD AND DEPRESSED NASAL BRIDGE(HP:0004666), ABNORMALITY OF THE THYMUS(HP:0000777), LOW-SET EARS(HP:0000369), ABNORMAL CORTICAL GYRATION(HP:0002536), CUP-SHAPED EARS(HP:0000378), RENAL AGENESIS/HYPOPLASIA(HP:0004744), EXTERNAL AUDITORY CANAL ATRESIA(HP:0000413), SEVERE T-CELL IMMUNODEFICIENCY(HP:0005352), HEARING LOSS, CONDUCTIVE(HP:0000405), APLASIA/HYPOPLASIA OF THE THUMB(HP:0009601), MICROTIA(HP:0000393), FACIAL CLEFT(HP:0002006), BROAD NOSE(HP:0000445), UNUSUAL HAIRLINE WITH HAIR GROWTH ON TEMPLES EXTENDING TO LATERAL EYEBROW(HP:0005325), APLASIA/HYPOPLASIA OF THE STERNUM(HP:0006714), FLATTENED NASAL BRIDGE(HP:0000425), HYPOPLASTIC, NOTCHED NARES(HP:0005286), CHOANAL STENOSIS(HP:0000452), CUTANEOUS SYNDACTYLY OF THE FINGERS(HP:0010554), MIDDLE EAR MALFORMATIONS(HP:0008609)]
343637	RSPO4	[GROWTH ABNORMALITY(HP:0001507), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), ANONYCHIA(HP:0001798)]
346171	ZFP57	[SEVERE FAILURE TO THRIVE(HP:0001525), DEHYDRATION(HP:0001944), INTRAUTERINE GROWTH RETARDATION(HP:0001511), HYPERGLYCEMIA(HP:0003074), TRANSIENT NEONATAL DIABETES MELLITUS(HP:0008255)]
347733	TUBB2B	[ABNORMALITY OF THE EYES(HP:0000478), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), UNILATERAL POLYMICROGYRIA, MOST OFTEN RIGHT-SIDED(HP:0006927), FRONTOPARIETAL CORTICAL DYSPLASIA(HP:0006930), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), LEARNING DISABILITY(HP:0001328), COGNITIVE DELAY(HP:0002532), HEMIPARESIS(HP:0001269)]
374291	NDUFS7	[BILATERAL SENSORINEURAL DEAFNESS(HP:0008530), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PSYCHOMOTOR RETARDATION(HP:0001255), MUSCULAR HYPOTONIA(HP:0001252), ATAXIA(HP:0001251), PROGRESSIVE DISORDER(HP:0003676), SEIZURES(HP:0001250), OPTIC ATROPHY(HP:0000648), SPASTICITY(HP:0001257), FAILURE TO THRIVE(HP:0001508), INCREASED CSF LACTATE(HP:0002490), RESPIRATORY INSUFFICIENCY(HP:0002093), MITOCHONDRIAL INHERITANCE(HP:0001427), HETEROGENEOUS(HP:0001425), ABNORMAL RESPIRATORY PATTERNS(HP:0002793), ONSET USUALLY IN INFANCY OR EARLY CHILDHOOD(HP:0003629), NYSTAGMUS(HP:0000639), HYPERTRICHOSIS(HP:0000998), LESIONS IN BASAL GANGLIA, BRAINSTEM, CEREBELLUM, THALAMUS, SPINAL CORD(HP:0002405), LACTIC ACIDEMIA(HP:0003128), PIGMENTARY RETINOPATHY(HP:0000580), LESIONS CHARACTERIZED BY DEMYELINATION, NECROSIS, GLIOSIS, SPONGIOSIS, AND CAPILLARY PROLIFERATION(HP:0002413), GLIOSIS(HP:0002171), DYSTONIA(HP:0001332), INCREASED SERUM LACTATE(HP:0002151), OPHTHALMOPLEGIA(HP:0000602), DEMYELINATION(HP:0003381)]
375790	AGRN	[ABNORMALITY OF THE EYES(HP:0000478), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), PROXIMAL MUSCLE WEAKNESS DUE TO DEFECT AT THE NEUROMUSCULAR JUNCTION(HP:0003399), MUSCLE CRAMPS(HP:0003394), MILDLY INCREASED SERUM CREATINE KINASE(HP:0003211), WADDLING GAIT(HP:0002515), PROXIMAL AMYOTROPHY(HP:0007126), IMMUNOLOGICAL ABNORMALITY(HP:0002715), EASY FATIGABILITY(HP:0003388), GOWER SIGN(HP:0003391), ONSET IN FIRST DECADE(HP:0003582)]
378884	NHLRC1	[GENERALIZED TONIC-CLONIC SEIZURES(HP:0002069), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), MYOCLONIC EPILEPSY, PROGRESSIVE(HP:0006869), GAIT DISTURBANCE(HP:0001288), APRAXIA(HP:0002186), PHOTOSENSITIVITY(HP:0000992), VISUAL LOSS(HP:0000572), ABSENCE SEIZURES(HP:0002121), MYOCLONUS(HP:0001336), METABOLISM ABNORMALITY(HP:0001939), PROGRESSIVE NEUROLOGIC DETERIORATION(HP:0002344), HEPATIC FAILURE(HP:0001399), PSYCHOSIS(HP:0000709), SIMPLE PARTIAL OCCIPITAL SEIZURES(HP:0007175), VISUAL HALLUCINATIONS(HP:0002367), DEMENTIA(HP:0000726)]
388552	BLOC1S3	[INFLAMMATORY BOWEL DISEASE(HP:0002037), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), INTERSTITIAL FIBROSIS(HP:0000129), CARDIOMYOPATHY(HP:0001638), ABDOMINAL PAIN(HP:0002027), BLEEDING DIATHESIS(HP:0001892), OCULAR ALBINISM(HP:0001107), FRECKLING(HP:0001480), RESTRICTIVE LUNG DISEASE(HP:0002091), EPISTAXIS(HP:0000421), LIFELONG REDUCED VISUAL ACUITY, LEGAL BLINDNESS TO LOW VISION(HP:0007640), HETEROGENEOUS(HP:0001425), ALBINISM(HP:0001022), BLOODY DIARRHEA(HP:0002255), FRECKLES IN SUN-EXPOSED AREAS(HP:0007603), HAIR ABNORMALITY(HP:0001595), RENAL FAILURE(HP:0000083), PIGMENTED NEVI(HP:0000995), NYSTAGMUS(HP:0000639), ECCHYMOSES(HP:0000978), PROLONGED BLEEDING TIME(HP:0003010), GINGIVAL BLEEDING(HP:0000225)]
389434	IYD	[HYPOTHYROIDISM(HP:0000821), LOW T4(HP:0003222), MENTAL RETARDATION(HP:0001249), GOITER(HP:0000853), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), GROWTH RETARDATION(HP:0001510)]
391051	UOX	[HYPERURICEMIA(HP:0002149), NEUROLOGICAL ABNORMALITY(HP:0000707)]
392255	GDF6	[AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), HEARING LOSS, SENSORINEURAL(HP:0000407), HEARING LOSS, CONDUCTIVE(HP:0000405), FUSION OF CERVICAL VERTEBRAE, MOST OFTEN C2-3(HP:0004636), CLEFT PALATE(HP:0000175), SPRENGEL ANOMALY(HP:0000912), POSTERIOR RIB FUSION(HP:0000913), DWARFISM(HP:0001516), HETEROGENEOUS(HP:0001425), SHORT NECK(HP:0000470), LIMITED NECK RANGE OF MOTION(HP:0000466), FACIAL ASYMMETRY(HP:0000324), HEMIVERTEBRAE(HP:0002937), LOW POSTERIOR HAIRLINE(HP:0002162), SCOLIOSIS(HP:0002650)]
404672	GTF2H5	[JOINT CONTRACTURES(HP:0001372), ICHTHYOSIS(HP:0000955), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPOGONADISM(HP:0000135), ABNORMALITY OF HAIR TEXTURE(HP:0010719), ABNORMALITY OF THE FACE(HP:0000271), ASTHMA(HP:0002099), CATARACT(HP:0000518), RECURRENT INFECTIONS(HP:0002719), MENTAL RETARDATION(HP:0001249), LACK OF SUBCUTANEOUS FATTY TISSUE(HP:0007519), INTESTINAL OBSTRUCTION(HP:0005214), LOW BIRTH WEIGHT(HP:0001518), ERYTHRODERMA(HP:0001019), COLLODION BABY(HP:0001021), DECREASED BODY HEIGHT(HP:0004322), ABNORMALITY OF THE THORAX(HP:0000765), PHOTOSENSITIVITY(HP:0000992), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA(HP:0007431), AGED LEONINE APPEARANCE(HP:0008509), FRAGILE NAILS(HP:0001808), MICROCEPHALY(HP:0000252), DECREASED IGG LEVEL(HP:0004315)]
405753	DUOXA2	[HYPOTHYROIDISM(HP:0000821), METABOLISM ABNORMALITY(HP:0001939), MENTAL RETARDATION(HP:0001249), GOITER(HP:0000853), GROWTH RETARDATION(HP:0001510)]
644096	SDHAF1	[AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), HYPERTROPHIC CARDIOMYOPATHY(HP:0001639), HIGHLY VARIABLE PHENOTYPE(HP:0003815), EXERCISE INTOLERANCE(HP:0003546), HYPERREFLEXIA(HP:0001347), ATAXIA(HP:0001251), SEIZURES(HP:0001250), SPASTICITY(HP:0001257), PSYCHOMOTOR REGRESSION IN INFANTS(HP:0007247), LACTIC ACIDOSIS MAY OCCUR WITH STRESS OR INFECTION(HP:0004897), DECREASED ACTIVITY OF MITOCHONDRIAL COMPLEX II(HP:0008314), COGNITIVE IMPAIRMENT(HP:0002128), LEUKOENCEPHALOPATHY, PROGRESSIVE(HP:0006980), MILDLY INCREASED SERUM LACTATE(HP:0003638), DECREASED BODY HEIGHT(HP:0004322), RAGGED-RED MUSCLE FIBERS(HP:0003200), BABINSKI SIGN(HP:0003487), MYOCLONUS(HP:0001336), MUSCLE WEAKNESS(HP:0001324), NEONATAL HYPOTONIA(HP:0001319)]
653361	NCF1	[RECTAL ABSCESS(HP:0005224), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), KLEBSIELLA INFECTIONS(HP:0002742), E. COLI INFECTIONS(HP:0002740), SERRATIA MARCESCENS INFECTIONS(HP:0002741), STAPHYLOCOCCUS AUREUS INFECTIONS(HP:0002726), ASPERGILLUS INFECTIONS(HP:0002724), ABSENCE OF BACTERICIDAL OXIDATIVE 'RESPIRATORY BURST' IN PHAGOCYTES(HP:0002723), ABSCESS FORMATION IN ANY ORGAN(HP:0002722), IMMUNODEFICIENCY(HP:0002721), LYMPHADENOPATHY(HP:0002716), PNEUMONIA DUE TO IMMUNODEFICIENCY(HP:0002096), CELLULITIS DUE TO IMMUNODEFICIENCY(HP:0003553), TISSUE BIOPSY SHOWS GRANULOMAS(HP:0002955), HEPATIC ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0001400), SPLENOMEGALY(HP:0001744), PERIRECTAL ABSCESSES DUE TO IMMUNODEFICIENCY(HP:0002567), BURKHOLDERIA CEPACIA INFECTIONS(HP:0002842), LYMPHADENITIS(HP:0002840), HYPOKINESIA(HP:0002375), NEGATIVE NITROBLUE TETRAZOLIUM (NBT) REDUCTION TEST(HP:0003203), DECREASED ACTIVITY OF NADPH OXIDASE(HP:0003206), ONSET USUALLY IN FIRST DECADE(HP:0003619), HEPATOMEGALY(HP:0002240), ECZEMATOID DERMATITIS(HP:0000976), DERMATITIS, INFECTIOUS, DUE TO IMMUNODEFICIENCY IMPETIGO(HP:0000983), DISCOID LUPUS IN CARRIERS OR ADULTS WITH MILD DISEASE(HP:0000981), OSTEOMYELITIS DUE TO IMMUNODEFICIENCY(HP:0002755)]
653509	SFTPA1	[RESPIRATORY ABNORMALITY(HP:0002086), METABOLISM ABNORMALITY(HP:0001939)]
724066	ATXN8	[INCOORDINATION(HP:0002311), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PROGRESSIVE CEREBELLAR ATAXIA(HP:0002073), ABNORMALITY OF OCULAR SMOOTH PURSUIT(HP:0000617), SENSORY NEUROPATHY(HP:0000763), NYSTAGMUS(HP:0000639), ABNORMALITY OF THE PYRAMIDAL TRACTS(HP:0002062), TREMOR(HP:0001337), SLOW SACCADES(HP:0000514), DYSARTHRIA(HP:0001260), DYSMETRIC SACCADES(HP:0000641), DYSPHAGIA(HP:0002015), SPASTICITY(HP:0001257), CEREBELLAR ATROPHY(HP:0001272)]
728294	D2HGDH	[INSPIRATORY STRIDOR(HP:0005348), MULTIFOCAL CEREBRAL WHITE MATTER ABNORMALITIES(HP:0007052), AUTOSOMAL RECESSIVE INHERITANCE(HP:0000007), CARDIOMYOPATHY(HP:0001638), AORTIC INSUFFICIENCY(HP:0001659), MACROCEPHALY(HP:0000256), DELAYED MYELINATION(HP:0002188), MUSCULAR HYPOTONIA(HP:0001252), FRONTAL BOSSING(HP:0002007), SEIZURES(HP:0001250), DEVELOPMENTAL RETARDATION(HP:0001263), APNEA(HP:0002104), EPISODIC VOMITING(HP:0002572), ONSET IN INFANCY(HP:0003576), INFANTILE ENCEPHALOPATHY(HP:0007105), MICROGNATHIA(HP:0000210), METABOLISM ABNORMALITY(HP:0001939), MUSCLE WEAKNESS(HP:0001324), SUBEPENDYMAL CYSTS(HP:0002416), ENLARGED LATERAL VENTRICLES(HP:0007173)]
729238	SFTPA2	[INCREASED IMMUNOGLOBULIN LEVEL(HP:0010702), CLUBBING(HP:0001217), AUTOSOMAL DOMINANT INHERITANCE(HP:0000006), PULMONARY FIBROSIS(HP:0002206), INCREASED ALVEOLAR CELL CARCINOMA(HP:0006757)]