X-Linked Dyskeratosis Congenita

Preferred Label : X-Linked Dyskeratosis Congenita;

NCIt synonyms : Hoyeraal Hreidarsson Syndrome;

NCIt definition : Dyskeratosis congenita inherited in an X-linked recessive pattern. It is caused by mutations in the DKC1 gene.;

Details

Origin ID

C126352;

UMLS CUI

C1148551;

Automatic exact mappings (from CISMeF team)
- Hoyeraal Hreidarsson syndrome [MeSH concept]
- Hoyeraal-Hreidarsson syndrome [ORDO Disease]
- hoyeraal hreidarsson syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Dyskeratosis congenita, X-linked [OMIM Phenotype]
- X-linked dyskeratosis congenita [DO Concept]
- X-linked dyskeratosis congenita (disorder) [SNOMED CT concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyskeratosis congenita [PASCAL descriptor]
- Dyskeratosis congenita, X-linked [OMIM Phenotype]
- X-linked dyskeratosis congenita [DO Concept]
- X-linked dyskeratosis congenita (disorder) [SNOMED CT concept]
- Zinsser-Cole-Engman syndrome [MeSH concept]
Validated automatic mappings to NTBT
- Dyskeratosis congenita [PASCAL descriptor]
- dyskeratosis congenita [MeSH Descriptor]
disease_has_finding
- Cutaneous Involvement [NCIt concept]
disease_mapped_to_gene
- DKC1 Gene [NCIt concept]
related_to_genetic_biomarker
- DKC1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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