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About: wrinkly skin syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • wrinkly skin syndrome
described by
id
  • DOID:0112171
database_cross_reference
  • GARD:273
  • MESH:C536750
  • OMIM:278250
  • ORDO:2834
  • SNOMEDCT_US_2021_09_01:238875009
  • UMLS_CUI:C0406587
has_exact_synonym
  • WSS
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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