JSON

dyskeratosis congenita, X-linked

Go to external page http://purl.obolibrary.org/obo/MONDO_0010584

X-linked form of dyskeratosis congenita. [ MONDO:patterns/x_linked ]

Synonyms: Hoyeraal Hreidarsson syndrome dyskeratosis congenita, X-linked, X-linked recessive Zinsser-Cole-Engman syndrome X-linked dyskeratosis congenita DKCX dyskeratosis congenita, X-linked

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C126352 (MONDO:equivalentTo)
  • SCTID:708536001 (MONDO:equivalentTo)
  • UMLS:C1148551 (MONDO:equivalentTo)
  • GARD:2007 (MONDO:GARD)
  • OMIM:305000 (MONDO:equivalentTo)
  • DOID:0070025 (MONDO:equivalentTo)
  • MEDGEN:216941 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, matrix_txgnn_grouping_cancer_or_benign_tumor, mondo_top_grouping_integumentary_system_disorder, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_included, nord_rare, clingen, mondo_top_grouping_cancer_or_benign_tumor, matrix_txgnn_grouping_member, 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

ClinGen label
dyskeratosis congenita, X-linked [ MONDO:patterns/x_linked https://omim.org/entry/305000 MONDO:Lexical ]

abbreviation
DKCX [ MONDO:Lexical GARD:0002007 DOID:0070025 https://omim.org/entry/305000 ]

conformsTo

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

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0010584

exactMatch

http://purl.obolibrary.org/obo/DOID_0070025

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

http://purl.obolibrary.org/obo/NCIT_C126352

http://identifiers.org/snomedct/708536001

http://identifiers.org/medgen/216941

https://omim.org/entry/305000

excluded from qc check

http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

has related synonym

Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia

dyskeratosis congenita X-linked

cerebellar hypoplasia with pancytopenia

id

MONDO:0010584

term tracker item

https://github.com/monarch-initiative/mondo/issues/4521