Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA
Synonyms	EPIDERMOLYSIS BULLOSA WITH CONGENITAL DEAFNESS EBR3 EPIDERMOLYSIS BULLOSA PROGRESSIVA, RECESSIVE
ID	http://purl.bioontology.org/ontology/OMIM/226500
altLabel	EPIDERMOLYSIS BULLOSA WITH CONGENITAL DEAFNESS EBR3 EPIDERMOLYSIS BULLOSA PROGRESSIVA, RECESSIVE
cui	C0268368
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	226500
OMIM Entry Type	5
OMIM MimType Value	perc
prefLabel	EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA
tui	T019

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/254176007	SCTSPA	CUI
http://purl.bioontology.org/ontology/CSP/0726-9169	CRISP	CUI
http://purl.bioontology.org/ontology/SNMI/D6-90912	SNMI	CUI
http://purl.bioontology.org/ontology/MESH/C562637	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254176007	SNOMEDCT	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C562637	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0009178	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009178	DOVES	LOOM
http://purl.bioontology.org/ontology/MESH/C562637	MESH	LOOM