Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/600974 http://purl.bioontology.org/ontology/OMIM/600974
Preferred Name	DEAFNESS, AUTOSOMAL RECESSIVE 7
Synonyms	DFNB11 DEAFNESS, AUTOSOMAL RECESSIVE 11 DFNB7
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNB11 DEAFNESS, AUTOSOMAL RECESSIVE 11 DFNB7
prefLabel	DEAFNESS, AUTOSOMAL RECESSIVE 7
Gene Symbol	DFNB7 TMC1 DFNA36 DFNB11
Scope Statement	Prelingual onset [MISCELLANEOUS] Caused by mutation in the transmembrane channel-like protein 1 (TMC1, 606706.0002) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU079490
tui	T047
Gene Locus	9q13-q21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	600974
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1832978
OMIM Entry Type	3
OMIM MimType Value	pound

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