Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618013 http://purl.bioontology.org/ontology/OMIM/618013
Preferred Name	DEAFNESS, AUTOSOMAL RECESSIVE 109
Synonyms	DFNB109
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNB109
prefLabel	DEAFNESS, AUTOSOMAL RECESSIVE 109
Gene Symbol	DFNB109 ESRP1 RMB35A
Scope Statement	No balance or movement abnormalities in affected individuals [MISCELLANEOUS] Based on report of two siblings in one family (last curated June 2018) [MISCELLANEOUS] Caused by mutation in the epithelial splicing regulatory protein-1 gene (ESRP1, 612959.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU061269 http://purl.bioontology.org/ontology/OMIM/MTHU061268
tui	T047
Gene Locus	8q22.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618013
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4693935
OMIM Entry Type	3
OMIM MimType Value	pound

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