JSON

ciliopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0005308

A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. [ http://en.wikipedia.org/wiki/Ciliopathy ]

Synonyms: ciliopathy

This is just here as a test because I lose it

Term information

database cross reference
  • GTR:AN0966173
  • DOID:0060340 (MONDO:equivalentTo)
  • UMLS:C4277690 (MONDO:equivalentTo)
  • GARD:21544 (MONDO:GARD)
  • EFO:0003900 (MONDO:equivalentTo)
  • Orphanet:363250 (MONDO:equivalentTo)
  • MEDGEN:908923 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, disease_grouping, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_included, clingen, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_hereditary_disease, ordo_group_of_disorders

ClinGen label
ciliopathy [ Orphanet:363250 DOID:0060340 ]

conformsTo

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

contributor

https://orcid.org/0000-0002-4142-7153

https://orcid.org/0000-0003-2955-4640

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0005308

exactMatch

http://www.ebi.ac.uk/efo/EFO_0003900

http://linkedlifedata.com/resource/umls/id/C4277690

http://identifiers.org/medgen/908923

http://www.orpha.net/ORDO/Orphanet_363250

http://purl.obolibrary.org/obo/DOID_0060340

has related synonym

ciliopathies

id

MONDO:0005308