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dyskeratosis congenita, X-linked

Go to external page http://purl.obolibrary.org/obo/MONDO_0010584

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

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

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, rare, nord_rare, clingen

IAO 0000233

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

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

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010584

Term relations