Terminology Service for NFDI4Health
dyskeratosis congenita, X-linked
Go to external page
http://purl.obolibrary.org/obo/MONDO_0010584
X-linked form of dyskeratosis congenita. [ ]
Term info
Label
dyskeratosis congenita, X-linked
Synonyms
- DKCX
- Hoyeraal Hreidarsson syndrome
- X-linked dyskeratosis congenita
- Zinsser-Cole-Engman syndrome
- dyskeratosis congenita, X-linked
- dyskeratosis congenita, X-linked, X-linked recessive
exactMatch
http://purl.obolibrary.org/obo/DOID_0070025, http://purl.obolibrary.org/obo/NCIT_C126352, http://identifiers.org/snomedct/708536001, https://omim.org/entry/305000
has related synonym
Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia, dyskeratosis congenita X-linked, cerebellar hypoplasia with pancytopenia
id
MONDO:0010584
see also
https://github.com/monarch-initiative/mondo/issues/4521