Dyskeratosis Congenita, Autosomal Dominant 6

Preferred Label : Dyskeratosis Congenita, Autosomal Dominant 6;

NCIt synonyms : Dyskeratosis Congenita, Autosomal Recessive 7; DKCB7; DKCA6;

NCIt definition : Dyskeratosis congenita caused by mutation(s) in the ACD gene, encoding adrenocortical dysplasia protein homolog.;

Details

Origin ID

C176924;

UMLS CUI

C4225284;

Automatic exact mappings (from CISMeF team)
- autosomal dominant dyskeratosis congenita 6 [DO Concept]
Currated CISMeF NLP mapping
- Dyskeratosis congenita, autosomal dominant 6 [OMIM Phenotype]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyskeratosis congenita, autosomal dominant 6 [OMIM Phenotype]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_mapped_to_gene
- ACD Gene [NCIt concept]
related_to_genetic_biomarker
- ACD Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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