Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617663 http://purl.bioontology.org/ontology/OMIM/617663
Preferred Name	DEAFNESS, AUTOSOMAL DOMINANT 73
Synonyms	DFNA73
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNA73
prefLabel	DEAFNESS, AUTOSOMAL DOMINANT 73
Gene Symbol	PTPRQ PTPGMC1 DFNA73 DFNB84A
Scope Statement	Based on one 4-generation German family (last curated September 2017) [MISCELLANEOUS] Caused by mutation in the protein-tyrosine phosphatase receptor-type, Q gene (PTPRQ, 603317.0003) [MOLECULAR BASIS] Onset between childhood to third decade [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU059535
tui	T047
Gene Locus	12q21.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617663
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4540024
OMIM Entry Type	3
OMIM MimType Value	pound

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