Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/608565 http://purl.bioontology.org/ontology/OMIM/608565
Preferred Name	DEAFNESS, AUTOSOMAL RECESSIVE 35
Synonyms	DFNB35
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNB35
prefLabel	DEAFNESS, AUTOSOMAL RECESSIVE 35
Gene Symbol	ESRL2 DFNB35 ESRRB
Scope Statement	Caused by mutation in the estrogen-related receptor, beta gene (ESRRB, 602167.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU050004 http://purl.bioontology.org/ontology/OMIM/MTHU050006 http://purl.bioontology.org/ontology/OMIM/MTHU050005
tui	T047
Gene Locus	14q24.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	608565
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1837857
OMIM Entry Type	3
OMIM MimType Value	pound

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