Online Mendelian Inheritance in Man - DEAFNESS, AUTOSOMAL RECESSIVE 23 - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	DEAFNESS, AUTOSOMAL RECESSIVE 23
Synonyms	DFNB23
ID	http://purl.bioontology.org/ontology/OMIM/609533
altLabel	DFNB23
cui	C1836027
Gene Locus	10q21-q22
Gene Symbol	DFNB23 USH1F PCDH15
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU029918 http://purl.bioontology.org/ontology/OMIM/MTHU000529 http://purl.bioontology.org/ontology/OMIM/MTHU000530 http://purl.bioontology.org/ontology/OMIM/MTHU000690 http://purl.bioontology.org/ontology/OMIM/MTHU029917 http://purl.bioontology.org/ontology/OMIM/MTHU000689
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	609533
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	DEAFNESS, AUTOSOMAL RECESSIVE 23
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C563705	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C563705	Medical Subject Headings	LOOM