Online Mendelian Inheritance in Man - DEAFNESS, AUTOSOMAL RECESSIVE 1A - Classes

Preferred Name	DEAFNESS, AUTOSOMAL RECESSIVE 1A
Synonyms	DFNB1A
ID	http://purl.bioontology.org/ontology/OMIM/220290
altLabel	DFNB1A DEAFNESS, DIGENIC, GJB2/GJB6 DEAFNESS, DIGENIC, GJB2/GJB3
cui	C2673760 C2673761 C2673759
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/MTHU037375 http://purl.bioontology.org/ontology/OMIM/MTHU037373 http://purl.bioontology.org/ontology/OMIM/MTHU033957 http://purl.bioontology.org/ontology/OMIM/MTHU037376 http://purl.bioontology.org/ontology/OMIM/MTHU037374
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	220700 221650 221600
notation	220290
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	DEAFNESS, AUTOSOMAL RECESSIVE 1A
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C567134	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C567134	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C567134	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C567134	Medical Subject Headings	LOOM