COL7A1 Exon 73 Mutation

Preferred Label : COL7A1 Exon 73 Mutation;

NCIt synonyms : NDNC8 Exon 73 Mutation; EBD1 Exon 73 Mutation; Collagen Type VII Alpha 1 Chain Exon 73 Mutation; EBR1 Exon 73 Mutation; Collagen, Type VII, Alpha 1 Exon 73 Mutation; COL7A1 Exon 73 Gene Mutation; EBDCT Exon 73 Mutation;

NCIt definition : A molecular genetic abnormality indicating the presence of a mutation in exon 73 of the COL7A1 gene.;

NCI Metathesaurus CUI : CL971109;

Details

Origin ID

C162523;

UMLS CUI

C5206621;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- COL7A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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