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dyskeratosis congenita, X-linked

^ http://purl.obolibrary.org/obo/MONDO_0010584

X-linked form of dyskeratosis congenita. [ MONDO:patterns/x_linked ]

Term info

database cross reference
  • DOID:0070025 (MONDO:equivalentTo)
  • GARD:0002007 (MONDO:equivalentTo)
  • OMIM:305000 (MONDO:equivalentTo)
  • SCTID:708536001 (MONDO:equivalentTo)
  • NCIT:C126352 (MONDO:equivalentTo)
abbreviation
DKCX [ DOID:0070025 MONDO:Lexical GARD:0002007 OMIM:305000 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

X-linked form of dyskeratosis congenita.

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 exact synonym

Hoyeraal Hreidarsson syndrome, dyskeratosis congenita, X-linked, X-linked recessive, Zinsser-Cole-Engman syndrome, X-linked dyskeratosis congenita, dyskeratosis congenita, X-linked, DKCX

has related synonym

Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia, dyskeratosis congenita X-linked, cerebellar hypoplasia with pancytopenia

id

MONDO:0010584

Term relations