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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 X-linked dyskeratosis congenita DKCX dyskeratosis congenita, X-linked

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:2007 (MONDO:GARD)
  • OMIM:305000 (MONDO:equivalentTo)
  • MEDGEN:216941 (MONDO:equivalentTo)
  • UMLS:C1148551 (MONDO:equivalentTo)
  • DOID:0070025 (MONDO:equivalentTo)
  • NCIT:C126352 (MONDO:equivalentTo)
  • SCTID:708536001 (MONDO:equivalentTo)
Subsets

gard_rare, otar, rare, nord_rare, clingen

abbreviation
DKCX [ GARD:0002007 DOID:0070025 MONDO:Lexical https://omim.org/entry/305000 ]

ClinGen label
dyskeratosis congenita, X-linked [ MONDO:Lexical https://omim.org/entry/305000 MONDO:patterns/x_linked ]

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/x_linked.yaml

exactMatch

http://purl.obolibrary.org/obo/DOID_0070025

http://linkedlifedata.com/resource/umls/id/C1148551

http://purl.obolibrary.org/obo/NCIT_C126352

http://identifiers.org/snomedct/708536001

http://identifiers.org/medgen/216941

https://omim.org/entry/305000

excluded from qc check

http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

has related synonym

Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia

dyskeratosis congenita X-linked

cerebellar hypoplasia with pancytopenia

id

MONDO:0010584

term tracker item

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