Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023

Preferred Name	gap junction protein alpha 1
Synonyms	ODOD
ID	http://www.orpha.net/ORDO/Orphanet_122102
alternative_term	ODOD CX43 oculodentodigital dysplasia (syndactyly type III) connexin 43 SDTY3 ODD
hasDbXref	Ensembl:ENSG00000152661 Genatlas:GJA1 Reactome:P17302 SwissProt:P17302 OMIM:121014 HGNC:4274 IUPHAR:728
label	gap junction protein alpha 1
prefixIRI	ORDO:Orphanet_122102
prefLabel	gap junction protein alpha 1
symbol	GJA1
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/121014	OMIM	LOOM
	http://purl.org/skeletome/bonedysplasia#P000074	BDO	LOOM