Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614944 http://purl.bioontology.org/ontology/OMIM/614944
Preferred Name	DEAFNESS, AUTOSOMAL RECESSIVE 84B
Synonyms	DFNB84B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNB84B
prefLabel	DEAFNESS, AUTOSOMAL RECESSIVE 84B
Gene Symbol	DFNB84B C12orf64 OTOGL
Scope Statement	Caused by mutation in the otogelin-like protein gene (OTOGL, 614925.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU040687 http://purl.bioontology.org/ontology/OMIM/MTHU008876
tui	T047
Gene Locus	12q21.31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614944
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3554159
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display