Terminology Service for NFDI4Health
X-Linked Dyskeratosis Congenita
Go to external page
http://purl.obolibrary.org/obo/NCIT_C126352
Dyskeratosis congenita inherited in an X-linked recessive pattern. It is caused by mutations in the DKC1 gene. [ ]
Term info
Label
X-Linked Dyskeratosis Congenita
Synonyms
- Hoyeraal Hreidarsson Syndrome
- X-Linked Dyskeratosis Congenita
Preferred Name
X-Linked Dyskeratosis Congenita
Semantic Type
Disease or Syndrome
UMLS CUI
C1148551
code
C126352