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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:1775 (MONDO:equivalentTo)
  • SCTID:74911008 (MONDO:equivalentTo)
  • ICD10:Q82.8 (Orphanet:1775)
  • NCIT:C111802 (MONDO:equivalentTo)
  • OMIMPS:127550 (MONDO:equivalentTo)
  • GARD:0010905 (MONDO:equivalentTo)
  • UMLS:C0265965 (Orphanet:1775)
  • MedDRA:10062759 (Orphanet:1775)
  • DOID:2729 (MONDO:equivalentTo)
  • MESH:D019871 (Orphanet:1775)
Subsets

gard_rare, ordo_disease, clingen

abbreviation
DKC [ GARD:0010905 Orphanet:1775 ]

abbreviation
DC [ Orphanet:1775 ]

closeMatch

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

comment

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

definition

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.

exactMatch

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

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

http://identifiers.org/meddra/10062759

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_0020063

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

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

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

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

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

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

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

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

has exact synonym

DKC

Zinsser-Engman-Cole syndrome

DC

has related synonym

Zinsser Cole Engman syndrome

Hoyeraal-Hreidarsson syndrome

id

MONDO:0015780

seeAlso

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

should conform to

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