About: ocular albinism with sensorineural deafness

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About: ocular albinism with sensorineural deafness Goto Sponge NotDistinct Permalink

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

Attributes	Values
type	Class
subClassOf	ocular albinism autosomal dominant disease digenic disease nodeID://b50942254 nodeID://b50942255
label	ocular albinism with sensorineural deafness
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090100
database_cross_reference	ICD10CM:E70.3 ORDO:352740
has_exact_synonym	autosomal recessive Waardenburg syndrome type 2 with ocular albinism (en) WS2-OA (en) digenic Waardenburg syndrome/albinism (en) digenic Waardenburg syndrome/ocular albinism (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942256

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