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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/278250
http://purl.bioontology.org/ontology/OMIM/278250
|
|---|---|
| Preferred Name | WRINKLY SKIN SYNDROME |
| Synonyms |
WSS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | WSS
|
|---|---|
| prefLabel | WRINKLY SKIN SYNDROME
|
| Gene Symbol |
ATP6V0A2
ARCL2A
WSS
|
| notation | 278250
|
| Scope Statement | Skin wrinkling improves with age [MISCELLANEOUS]
Caused by mutation in the ATPase, H+ transporting, lysosomal, V0 subunit A2 gene (ATP6V0A2, 611716.0003) [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 12q24.3
|
| tui | T047
|
| cui | C0406587
|
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