Name		Synonyms
Autism		no synonyms

Primary ID		Alternative IDs
HP:0000717		no alternative IDs

Term definition
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior.

Super-classes (vis)		Sub-classes (vis)
Autism spectrum disorder		none

Diseases / genes associated with this term

Disease		Gene(s)
22Q13 DELETION SYNDROME (PHELAN-MCDERMID SYNDROME)
XQ28 (MECP2) DUPLICATION
ADENYLOSUCCINASE DEFICIENCY		ADSL
CRI-DU-CHAT SYNDROME		CTNND2
GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE		SMAD4
HEMIFACIAL MICROSOMIA
#176270 PRADER-WILLI SYNDROME; PWS;;PRADER-LABHART-WILLI SYNDROMEPRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDED;;PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6, INCLUDED		SNRPN ; NDN
#180849 RUBINSTEIN-TAYBI SYNDROME 1; RSTS1;;RUBINSTEIN SYNDROME;;BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION;;BROAD THUMB-HALLUX SYNDROME		CREBBP
#182230 SEPTOOPTIC DYSPLASIA;;DE MORSIER SYNDROMEPITUITARY HORMONE DEFICIENCY, COMBINED, 5, INCLUDED; CPHD5, INCLUDED;;GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, INCLUDED		HESX1
STURGE-WEBER SYNDROME
#191100 TUBEROUS SCLEROSIS 1; TSC1;;TUBEROUS SCLEROSIS COMPLEX; TSC;;TUBEROSE SCLEROSIS; TS		TSC1
#194050 WILLIAMS-BEUREN SYNDROME; WBS;;CHROMOSOME 7Q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB;;WILLIAMS SYNDROME; WMS; WS
ALSTROM SYNDROME		ALMS1
AUSTRALIA ANTIGEN
AUTISM
#214800 CHARGE SYNDROME;;CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION,GENITAL AND EAR ANOMALIES;;HALL-HITTNER SYNDROME; HHS		SEMA3E ; CHD7
HYPERLEXIA
HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINEGUANINE PHOSPHORIBOSYLTRANSFERASE
%268850 RICHIERI-COSTA/GUION-ALMEIDA SYNDROME;;SHORT STATURE, MENTAL RETARDATION, EYE ANOMALIES, AND CLEFT LIP/PALATE;;SAO PAULO MCA/MR SYNDROME
#270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS;;SLO SYNDROME;;RSH SYNDROME;;RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME;;POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG;;LETHAL ACRODYSGENITAL SYNDROME		DHCR7
#271980 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY;;SSADH DEFICIENCY;;4-@HYDROXYBUTYRIC ACIDURIA;;GABA METABOLIC DEFECT;;GAMMA-HYDROXYBUTYRIC ACIDURIA		ALDH5A1
#274270 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY;;DPD DEFICIENCY;;DPYD DEFICIENCY;;THYMINE-URACILURIA, HEREDITARY;;PYRIMIDINEMIA, FAMILIAL5-@FLUOROURACIL TOXICITY, INCLUDED		DPYD
#280000 COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTALRETARDATION, AND EAR ANOMALIES SYNDROME; CHIME;;CHIME SYNDROME;;ZUNICH NEUROECTODERMAL SYNDROME		PIGL
#300143 MENTAL RETARDATION, X-LINKED 21; MRX21;;MENTAL RETARDATION, X-LINKED 34; MRX34		IL1RAPL1
#300352 CREATINE DEFICIENCY SYNDROME, X-LINKED;;CREATINE TRANSPORTER DEFECT;;MENTAL RETARDATION, X-LINKED, WITH SEIZURES, SHORT STATURE, AND MIDFACEHYPOPLASIA;;MENTAL RETARDATION, X-LINKED, WITH CREATINE TRANSPORT DEFICIENCY		SLC6A8
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1AUTSX1
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2		NLGN4X
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2
MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED		KDM5C
FRAGILE X MENTAL RETARDATION SYNDROME		FMR1
#300699 MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE; MRXSW;;MENTAL RETARDATION, X-LINKED 94; MRX94;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 29; MRXS29		GRIA3
#300801 CHROMOSOME XP11.23-P11.22 DUPLICATION SYNDROME
#300872 EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY; TMLHED;;AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6		TMLHE
#301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX;;ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE;;ATR-X SYNDROME;;ATR, NONDELETION TYPE		ATRX
#302350 NANCE-HORAN SYNDROME; NHS;;CATARACT-DENTAL SYNDROME;;CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETH;;MESIODENS-CATARACT SYNDROME		NHS
ICHTHYOSIS, X-LINKED		STS
#309520 LUJAN-FRYNS SYNDROME;;MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS		MED12
#309549 MENTAL RETARDATION, X-LINKED 9; MRX9;;MENTAL RETARDATION, X-LINKED 44; MRX44		FTSJ1
NORRIE DISEASE		NDP
CYCLIC VOMITING SYNDROME
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES
#600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR;;ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROMECHROMOSOME 2Q37 DELETION SYNDROME, INCLUDED		HDAC4 ; BDMR
#605309 MACROCEPHALY/AUTISM SYNDROME		PTEN
AUTISM, SUSCEPTIBILITY TO, 5
#606232 CHROMOSOME 22Q13.3 DELETION SYNDROME;;TELOMERIC 22Q13 MONOSOMY SYNDROME;;PHELAN-MCDERMID SYNDROME		SHANK3
AUTISM, SUSCEPTIBILITY TO, 8
#607872 CHROMOSOME 1P36 DELETION SYNDROME;;MONOSOMY 1P36 SYNDROME
AUTISM, SUSCEPTIBILITY TO, 3
#608363 CHROMOSOME 22Q11.2 DUPLICATION SYNDROME;;CHROMOSOME 22Q11.2 MICRODUPLICATION SYNDROME
ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2
AUTISM, SUSCEPTIBILITY TO, 4
SCHINDLER DISEASE, TYPE I		NAGA
CHROMOSOME 3Q29 DELETION SYNDROME
#610253 KLEEFSTRA SYNDROME;;CHROMOSOME 9Q34.3 DELETION SYNDROME;;9Q- SYNDROME;;9Q SUBTELOMERIC DELETION SYNDROME		EHMT1
#610883 POTOCKI-LUPSKI SYNDROME; PTLS;;CHROMOSOME 17P11.2 DUPLICATION SYNDROME
16P11.2 MICRODELETION SYNDROME
CHROMOSOME 15Q13.3 MICRODELETION SYNDROME
#612313 CHROMOSOME 2Q32-Q33 DELETION SYNDROME
#612474 CHROMOSOME 1Q21.1 DELETION SYNDROME, 1.35-MB
#612475 CHROMOSOME 1Q21.1 DUPLICATION SYNDROME
#612513 CHROMOSOME 2P16.1-P15 DELETION SYNDROME
#612718 ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY;;AGAT DEFICIENCY;;GATM DEFICIENCY;;CREATINE DEFICIENCY SYNDROME DUE TO AGAT DEFICIENCY		GATM
#613254 TUBEROUS SCLEROSIS 2; TSC2TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF, INCLUDED		TSC2
#613406 CHROMOSOME 15Q24 DELETION SYNDROMECHROMOSOME 15Q24 DUPLICATION SYNDROME, INCLUDED
#613443 MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRALMALFORMATIONS;;CHROMOSOME 5Q14.3 DELETION SYNDROME		MEF2C
#613509 CHROMOSOME 4Q21 DELETION SYNDROME
17Q21.31 MICRODUPLICATION SYNDROME
DISTAL 7Q11.23 MICRODELETION SYNDROME
#614296 WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL;;HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSEREGULATION		WFS1
#614527 CHROMOSOME 17Q12 DELETION SYNDROME
#614558 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13		SCN8A
16P11.2 MICRODUPLICATION SYNDROME
#614923 BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY; BCKDKD;;BCKDK DEFICIENCY		BCKDK
48,XXYY SYNDROME
6Q16 DELETION SYNDROME		SIM1
CORNELIA DE LANGE SYNDROME		SMC1A ; HDAC8 ; SMC3 ; NIPBL ; RAD21
DYGGVE-MELCHIOR-CLAUSEN DISEASE		DYM
15Q14 MICRODELETION SYNDROME
16P13.11 MICRODUPLICATION SYNDROME
16Q24.3 MICRODELETION SYNDROME		ANKRD11
10Q22.3Q23.3 MICRODELETION SYNDROME
RECESSIVE X-LINKED ICHTHYOSIS		STS
MOEBIUS SYNDROME
CLASSICAL PHENYLKETONURIA		PAH
KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION		EHMT1
48,XXXY SYNDROME
49,XXXXY SYNDROME