Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	DEAFNESS, AUTOSOMAL RECESSIVE 1B
Synonyms	DFNB1B
ID	http://purl.bioontology.org/ontology/OMIM/612645
altLabel	DFNB1B
cui	C2675235
Gene Locus	13q12
Gene Symbol	DFNB1B CX30 DFNA3B HED2 ECTD2 GJB6
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU033958 http://purl.bioontology.org/ontology/OMIM/MTHU033957 http://purl.bioontology.org/ontology/OMIM/MTHU033959 http://purl.bioontology.org/ontology/OMIM/MTHU033960
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	612645
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	DEAFNESS, AUTOSOMAL RECESSIVE 1B
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C567213	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C567213	Medical Subject Headings	LOOM