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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607836
http://purl.bioontology.org/ontology/OMIM/607836
|
|---|---|
| Preferred Name | AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 |
| Synonyms |
AIS1
AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 2
VAMAS2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
AIS1
AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 2
VAMAS2
|
|---|---|
| prefLabel | AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1
|
| Gene Symbol |
VAMAS2
FOXD3
AIS1
|
| Scope Statement | Early age at onset (13 years) [MISCELLANEOUS]
Caused by mutation in the forkhead box D3 gene (FOXD3, 611539.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T033
|
| Gene Locus | 1p31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 607836
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1842979
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |