Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Deafness, Autosomal Recessive 1A
Synonyms	Deafness, Digenic, Gjb2-Gjb3 Deafness, Digenic, Gjb2-Gjb6 DFNB1A
ID	http://purl.bioontology.org/ontology/MESH/C567134
altLabel	Deafness, Digenic, Gjb2-Gjb3 Deafness, Digenic, Gjb2-Gjb6 DFNB1A
cui	C2673759 C2673760 C2673761
HM	D006319
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D006319
MDA	20121105
MeSH Frequency	6
notation	C567134
prefLabel	Deafness, Autosomal Recessive 1A
SC	3
Scope Statement	PROM
TERMUI	T823972 T823973 T831545 T831544
TH	OMIM (2013)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/121011	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/121011	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/121011	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/220290	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/220290	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/604418	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/603324	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/220290	OMIM	CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129022	NCIT	LOOM
http://identifiers.org/omim/220290	REXO	LOOM
http://identifiers.org/omim/220290	GEXO	LOOM
http://identifiers.org/omim/220290	RETO	LOOM
http://purl.bioontology.org/ontology/OMIM/220290	OMIM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C567134	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_220290	CCO	LOOM
http://purl.obolibrary.org/obo/NCIT_C129022	BERO	LOOM