Preferred Name |
dyskeratosis congenita |
|
Synonyms |
Zinsser-Engman-Cole syndrome dyskeratosis congenita DKC MONDO:DC Hoyeraal-Hreidarsson syndrome Zinsser Cole Engman syndrome |
|
Definitions |
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. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0015780 |
|
closeMatch | ||
database_cross_reference |
MESH:D019871 OMIMPS:127550 SCTID:74911008 UMLS:C0265965 MedDRA:10062759 NANDO:1200304 NANDO:2200715 NCIT:C111802 NANDO:1200342 Orphanet:1775 DOID:2729 GARD:10905 NORD:1071 |
|
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/Orphanet_1775 http://linkedlifedata.com/resource/umls/id/C0265965 http://identifiers.org/snomedct/74911008 http://identifiers.org/mesh/D019871 http://purl.obolibrary.org/obo/NCIT_C111802 |
|
has_exact_synonym |
Zinsser-Engman-Cole syndrome dyskeratosis congenita DKC MONDO:DC |
|
has_related_synonym |
Hoyeraal-Hreidarsson syndrome Zinsser Cole Engman syndrome |
|
id |
MONDO:0015780 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
label |
dyskeratosis congenita |
|
notation |
MONDO:0015780 |
|
prefLabel |
dyskeratosis congenita |
|
see also |
https://rarediseases.info.nih.gov/diseases/2007/dyskeratosis-congenita-x-linked |
|
subClassOf | ||
excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020195 http://purl.obolibrary.org/obo/MONDO_0018035 http://purl.obolibrary.org/obo/MONDO_0001713 http://purl.obolibrary.org/obo/MONDO_0016382 http://purl.obolibrary.org/obo/MONDO_0020204 http://purl.obolibrary.org/obo/MONDO_0020119 http://purl.obolibrary.org/obo/MONDO_0019289 |