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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: dyskeratosis congenita DKC Zinsser-Engman-Cole syndrome DC

This is just here as a test because I lose it

Term information

database cross reference
  • OMIMPS:127550 (https://orcid.org/0000-0002-6601-2165)
  • GARD:10905 (MONDO:GARD)
  • MESH:D019871 (Orphanet:1775/e)
  • DOID:2729 (MONDO:equivalentTo)
  • NCIT:C111802 (MONDO:equivalentTo)
  • NANDO:1200342 (https://orcid.org/0000-0003-0011-764X)
  • Orphanet:1775 (MONDO:equivalentTo)
  • NANDO:2200715 (https://orcid.org/0000-0003-0011-764X)
  • NANDO:1200304 (https://orcid.org/0000-0003-0011-764X)
  • SCTID:74911008 (MONDO:equivalentTo)
  • icd11.foundation:1531033936 (MONDO:equivalentTo)
  • UMLS:C0265965 (MONDO:equivalentTo)
  • NORD:1071 (MONDO:NORD)
  • MEDGEN:78580 (MONDO:equivalentTo)
  • MedDRA:10062759 (Orphanet:1775/e)
Subsets

matrix_llm__is_cancer_other, ordo_disorder, gard_rare, matrix_txgnn_grouping_cancer_or_benign_tumor, mondo_top_grouping_integumentary_system_disorder, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_included, nord_rare, clingen, mondo_top_grouping_cancer_or_benign_tumor, matrix_txgnn_grouping_member, rare, orphanet_rare, harrisons_view_integumentary_system_disorder, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, susceptibility_mondo, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cancer_or_benign_tumor, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease

abbreviation
DC [ Orphanet:1775 ]

ClinGen label
dyskeratosis congenita [ icd11.foundation:1531033936 OMIMPS:127550 DOID:2729 Orphanet:1775 NCIT:C111802 ]

abbreviation
DKC [ NCIT:C111802 GARD:0010905 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

curated content resource

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

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://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1531033936

http://identifiers.org/medgen/78580

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

should conform to

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