About: nodeID://b50946222

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

Attributes	Values
type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007646
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	wrinkly skin syndrome
annotatedTarget	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.
database_cross_reference	url:https://pubmed.ncbi.nlm.nih.gov/18157129/ url:https://pubmed.ncbi.nlm.nih.gov/4765201/ url:https://www.ncbi.nlm.nih.gov/books/NBK5200/
is topic of	Human Disease Ontology

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