Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/609706 http://purl.bioontology.org/ontology/OMIM/609706
Preferred Name	DEAFNESS, AUTOSOMAL RECESSIVE 53
Synonyms	DFNB53
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNB53
prefLabel	DEAFNESS, AUTOSOMAL RECESSIVE 53
Gene Symbol	OSMEDB DFNB53 FBCG2 COL11A2 DFNA13 OSMEDA See more See less
Scope Statement	Prelingual onset [MISCELLANEOUS] Some heterozygous carriers exhibit accelerated age-related hearing loss [MISCELLANEOUS] Caused by mutation in the alpha-2 collagen XI polypeptide gene (COL11A2, 120290.0010) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU050138
tui	T047
Gene Locus	6p21.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	609706
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1864746
OMIM Entry Type	3
OMIM MimType Value	pound

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