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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/209850
http://purl.bioontology.org/ontology/OMIM/209850
|
|---|---|
| Preferred Name | AUTISM |
| Synonyms |
AUTISM, SUSCEPTIBILITY TO, 1
AUTISM SPECTRUM DISORDER
AUTISTIC DISORDER
AUTS1
ASD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
AUTISM, SUSCEPTIBILITY TO, 1
AUTISM SPECTRUM DISORDER
AUTISTIC DISORDER
AUTS1
ASD
|
|---|---|
| prefLabel | AUTISM
|
| Gene Symbol | AUTS1
|
| notation | 209850
|
| Scope Statement | Onset by 3 years of age [MISCELLANEOUS]
Associated with Fragile X syndrome (309550) [MISCELLANEOUS]
Genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496) [MISCELLANEOUS]
Occurs in 2-5 per 10,000 individuals [MISCELLANEOUS]
Associated with untreated phenylketonuria (261600) [MISCELLANEOUS]
Male to female ratio 4:1 [MISCELLANEOUS]
Associated with tuberous sclerosis (191100) [MISCELLANEOUS]
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| OMIM MimType Value | perc
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 5
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Mendelian phenotype or locus, molecular basis unknown.
|
| Gene Locus | 7q22
|
| tui |
T033
T048
|
| cui |
C1968924
C1510586
C0004352
|
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