Biological and Environmental Research Ontology

Last uploaded: December 23, 2022

Preferred Name	Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Synonyms
Definitions	An autosomal recessive allelic variant of epidermolysis bullosa dystrophica caused by mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain.
ID	http://purl.obolibrary.org/obo/NCIT_C156446
code	C156446
definition	An autosomal recessive allelic variant of epidermolysis bullosa dystrophica caused by mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain.
label	Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Preferred_Name	Epidermolysis Bullosa Dystrophica, Autosomal Recessive
prefixIRI	NCIT:C156446
prefLabel	Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0079474
subClassOf	http://purl.obolibrary.org/obo/NCIT_C84691

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/226600	OMIM	LOOM
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156446	NCIT	LOOM