loading...| Preferred Name |
wrinkly skin syndrome |
| Synonyms |
WSS |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0112171 |
| database_cross_reference |
MESH:C536750 GARD:273 ORDO:2834 UMLS_CUI:C0406587 SNOMEDCT_US_2022_09_01:238875009 OMIM:278250 |
| 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. |
| has exact synonym |
WSS |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0112171 |
| in_subset | |
| label |
wrinkly skin syndrome |
| notation |
DOID:0112171 |
| prefLabel |
wrinkly skin syndrome |
| subClassOf |