_:vb50946221 . . "SNOMEDCT_US_2021_09_01:238875009"^^ . . "DOID:0112171"^^ . "UMLS_CUI:C0406587"^^ . . _:vb50946221 . "wrinkly skin syndrome"^^ . "disease_ontology"^^ . _:vb50946221 . "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 ATP6V0A2 on chromosome 12q24.31."^^ . "WSS"^^ . "MESH:C536750"^^ . "ORDO:2834"^^ . . _:vb50946221 . "GARD:273"^^ . "OMIM:278250"^^ . _:vb50946221 .