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dyskeratosis congenita

^ 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 ]

Term info

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

gard_rare, ordo_disease, clingen

abbreviation
DKC [ Orphanet:1775 GARD:0010905 ]

abbreviation
MONDO:DC [ Orphanet:1775 ]

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

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

https://omim.org/phenotypicSeries/PS127550, http://purl.obolibrary.org/obo/NCIT_C111802, http://purl.obolibrary.org/obo/Orphanet_1775, http://linkedlifedata.com/resource/umls/id/C0265965, http://purl.obolibrary.org/obo/DOID_2729, http://identifiers.org/mesh/D019871, http://identifiers.org/snomedct/74911008

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 exact synonym

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

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