Autism

Symptom Information:

Symptom ID: HPO:0000717
Synonyms:
Infantile autism (disorder) [Orphanet:43570]
Autistic disorder of childhood onset (disorder) [Orphanet:43570]
Autistic disorder (disorder) [Orphanet:43570]
Autistic Disorder [Orphanet:43570]
Autism [OMIM:Autism]
Autism/autistic disoders [Orphanet:43570]
Autism [Orphanet:43570]
Autism [MedDRA:10003805]
Autism infantile [MedDRA:10003805]
Autistic behaviour [MedDRA:10003805]
Autistic disorder [MedDRA:10003805]
Childhood autism [MedDRA:10003805]
Early infantile autism [MedDRA:10003805]
Infantile autism [MedDRA:10003805]
Infantile autism, current or active state [MedDRA:10003805]
Infantile autism, residual state [MedDRA:10003805]
Kanner's syndrome [MedDRA:10003805]
Autistic behavior [MedDRA:10003805]
Autism (209850) [OMIM:Autism (209850)]
Autism (CVS+) [OMIM:Autism (CVS+)]
Autism (in some patients) [OMIM:Autism (in some patients)]
Autism (rare) [OMIM:Autism (rare)]
Autistic behavior [OMIM:Autistic behavior]
Autistic behavior (in some patients) [OMIM:Autistic behavior (in some patients)]
Autistic behaviors [OMIM:Autistic behaviors]
Quality:
Cross references:
Orphanet:43570 "Autism/autistic disoders" [Orphanet:43570]
OMIM: "Autism" [OMIM:Autism]
OMIM: "Autism (209850)" [OMIM:Autism (209850)]
OMIM: "Autism (CVS+)" [OMIM:Autism (CVS+)]
OMIM: "Autism (in some patients)" [OMIM:Autism (in some patients)]
OMIM: "Autism (rare)" [OMIM:Autism (rare)]
OMIM: "Autistic behavior" [OMIM:Autistic behavior]
OMIM: "Autistic behavior (in some patients)" [OMIM:Autistic behavior (in some patients)]
OMIM: "Autistic behaviors" [OMIM:Autistic behaviors]
UMLS:C0004352 "Autism" [HPO:0000717]
UMLS:C0004352 "Autistic Disorder" [Orphanet:43570]
Is a (Direct Parents):
Orphanet Behavioral abnormality
HPO         Autistic behavior
MedDRA Pervasive developmental disorders NEC
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the nervous system(HPO:0000707)
          Abnormality of nervous system physiology(HPO:0012638)
             Abnormality of higher mental function(HPO:0011446)
                Behavioral abnormality(HPO:0000708)
                   Abnormal emotion/affect behavior(HPO:0100851)
                      Autistic behavior(HPO:0000729)
                         Autism(HPO:0000717)
MedDRA:
Database Frequency: 108 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
15q11q13 microduplication syndrome (Orphanet:238446)
15q13.3 microdeletion syndrome (Orphanet:199318)
15q14 microdeletion syndrome (Orphanet:261190)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microduplication syndrome (Orphanet:261204)
16p13.11 microduplication syndrome (Orphanet:261243)
16q24.3 microdeletion syndrome (Orphanet:261250)
17p11.2 microduplication syndrome (Orphanet:1713)
17q12 microdeletion syndrome (Orphanet:261265)
17q21.31 microduplication syndrome (Orphanet:217340)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q21.1 microduplication syndrome (Orphanet:250994)
22q11.2 deletion syndrome (Orphanet:567)
22q11.2 microduplication syndrome (Orphanet:1727)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q32q33 microdeletion syndrome (Orphanet:251019)
2q37 microdeletion syndrome (Orphanet:1001)
3q13 microdeletion syndrome (Orphanet:1621)
3q29 microdeletion syndrome (Orphanet:65286)
4-hydroxybutyric aciduria (Orphanet:22)
48,XXXY syndrome (Orphanet:96263)
48,XXYY syndrome (Orphanet:10)
49,XXXXY syndrome (Orphanet:96264)
4q21 microdeletion syndrome (Orphanet:238750)
5q14.3 microdeletion syndrome (Orphanet:228384)
6q16 deletion syndrome (Orphanet:171829)
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 (OMIM:608631)
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (OMIM:300494)
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 (OMIM:300497)
AUSTRALIA ANTIGEN (OMIM:209800)
AUTISM (OMIM:209850)
AUTISM, SUSCEPTIBILITY TO, 3 (OMIM:608049)
AUTISM, SUSCEPTIBILITY TO, 5 (OMIM:606053)
AUTISM, SUSCEPTIBILITY TO, 8 (OMIM:607373)
AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Adenylosuccinate lyase deficiency (Orphanet:46)
Alpha-N-acetylgalactosaminidase deficiency (Orphanet:3137)
Alpha-N-acetylgalactosaminidase deficiency type 1 (Orphanet:79279)
Alpha-N-acetylgalactosaminidase deficiency type 3 (Orphanet:79281)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alström syndrome (Orphanet:64)
Arginine:glycine amidinotransferase deficiency (Orphanet:35704)
Atypical Rett syndrome (Orphanet:3095)
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (Orphanet:308410)
BRUNNER SYNDROME (OMIM:300615)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
CHARGE syndrome (Orphanet:138)
CYCLIC VOMITING SYNDROME (OMIM:500007)
Christianson syndrome (Orphanet:85278)
Classical phenylketonuria (Orphanet:79254)
Cornelia de Lange syndrome (Orphanet:199)
Cowden syndrome (Orphanet:201)
Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Distal 7q11.23 microdeletion syndrome (Orphanet:254351)
Dyggve-Melchior-Clausen disease (Orphanet:239)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 (OMIM:614558)
EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY (OMIM:300872)
Fragile X syndrome (Orphanet:908)
Goldenhar syndrome (Orphanet:374)
HYPERLEXIA (OMIM:238350)
HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINEGUANINE PHOSPHORIBOSYLTRANSFERASE (OMIM:240000)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome (Orphanet:363611)
Isolated plagiocephaly (Orphanet:35098)
Kleefstra syndrome (Orphanet:261494)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Leber congenital amaurosis 10 (OMIM:611755)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
MENTAL RETARDATION, X-LINKED 88 (OMIM:300852)
MENTAL RETARDATION, X-LINKED 9 (OMIM:309549)
Macrocephaly-autism syndrome (Orphanet:210548)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microduplication Xp11.22-p11.23 syndrome (Orphanet:217377)
Moebius syndrome (Orphanet:570)
Monosomy 22q13 (Orphanet:48652)
Monosomy 5p (Orphanet:281)
Myhre syndrome (Orphanet:2588)
Nance-Horan syndrome (Orphanet:627)
Norrie disease (Orphanet:649)
Prader-Willi syndrome (Orphanet:739)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Recessive X-linked ichthyosis (Orphanet:461)
Rett syndrome (Orphanet:778)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Septo-optic dysplasia (Orphanet:3157)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Sturge-Weber syndrome (Orphanet:3205)
Syndromic X-linked ichthyosis (Orphanet:281090)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
TUBEROUS SCLEROSIS 1 (OMIM:191100)
TUBEROUS SCLEROSIS 2 (OMIM:613254)
Timothy syndrome (Orphanet:65283)
Tuberous sclerosis (Orphanet:805)
Williams syndrome (Orphanet:904)
X-linked creatine transporter deficiency (Orphanet:52503)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual disability due to GRIA3 anomalies (Orphanet:364028)
Zunich-Kaye syndrome (Orphanet:3474)
[DEL] Wolfram-like syndrome, autosomal dominant (OMIM:614296)