WormBase Tree Display for DO_term: DOID:0112171
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| DOID:0112171 | Name | wrinkly skin syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31. | ||||
| Synonym | Exact | WSS | |||
| Parent | Is_a | DOID:225 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 278250 | |
| Attribute_of | Gene_by_orthology | WBGene00006768 | |||
| WBGene00006914 | |||||
| WBGene00006915 | |||||
| WBGene00006916 |
