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dyskeratosis congenita

Go to external page http://purl.obolibrary.org/obo/MONDO_0015780

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer. [ Orphanet:1775 ]

Synonyms: MONDO:DC dyskeratosis congenita DKC Zinsser-Engman-Cole syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • MedDRA:10062759 (Orphanet:1775/e)
  • OMIMPS:127550 (MONDO:equivalentTo)
  • GARD:10905 (Orphanet:1775)
  • UMLS:C0265965 (Orphanet:1775/e)
  • NORD:1071 (MONDO:NORD)
  • SCTID:74911008 (MONDO:equivalentTo)
  • MESH:D019871 (Orphanet:1775/e)
  • NCIT:C111802 (MONDO:equivalentTo)
  • Orphanet:1775 (MONDO:equivalentTo)
  • DOID:2729 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

closeMatch

http://identifiers.org/meddra/10062759

comment

Editor note: in ORDO this is X-linked but this is the inheritance-neutral form and non-X-linked forms exist

exactMatch

https://omim.org/phenotypicSeries/PS127550

http://purl.obolibrary.org/obo/NCIT_C111802

http://linkedlifedata.com/resource/umls/id/C0265965

http://purl.obolibrary.org/obo/DOID_2729

http://identifiers.org/mesh/D019871

http://identifiers.org/snomedct/74911008

http://www.orpha.net/ORDO/Orphanet_1775

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020195

http://purl.obolibrary.org/obo/MONDO_0020063

http://purl.obolibrary.org/obo/MONDO_0020119

http://purl.obolibrary.org/obo/MONDO_0020204

http://purl.obolibrary.org/obo/MONDO_0001713

http://purl.obolibrary.org/obo/MONDO_0002254

http://purl.obolibrary.org/obo/MONDO_0016382

http://purl.obolibrary.org/obo/MONDO_0018035

http://purl.obolibrary.org/obo/MONDO_0019289

has related synonym

Zinsser Cole Engman syndrome

Hoyeraal-Hreidarsson syndrome

id

MONDO:0015780

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0015780

https://rarediseases.info.nih.gov/diseases/2007/dyskeratosis-congenita-x-linked