Terminology Service for NFDI4Health
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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. [ ]

Term info

Label

dyskeratosis congenita

Synonyms
  • DKC
  • MONDO:DC
  • Zinsser-Engman-Cole syndrome
  • dyskeratosis congenita
database cross reference
Subsets

gard_rare, ordo_disease, 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://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 related synonym

Zinsser Cole Engman syndrome, Hoyeraal-Hreidarsson syndrome

id

MONDO:0015780

narrowMatch

https://icd.codes/icd10cm/Q82.8

see also

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