JSON

[X] familial hypertrophic cardiomyopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0024573

Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. [ NCIT:C84773 ]

Synonyms: hereditary hypertrophic cardiomyopathy hypertrophic familial cardiomyopathy cardiomyopathy, familial hypertrophic familial hypertrophic cardiomyopathy familila or idiopathic hypertrophic obstructive cardiomyopathy

This is just here as a test because I lose it

Term information

database cross reference
  • OMIMPS:192600 (MONDO:equivalentTo)
  • MESH:D024741 (MONDO:equivalentTo)
  • MEDGEN:183649 (MONDO:equivalentTo)
  • SCTID:471885006 (MONDO:equivalentTo)
  • DOID:0080326 (MONDO:equivalentTo)
  • Orphanet:155 (MONDO:equivalentObsolete)
  • NCIT:C84773 (MONDO:equivalentTo)
  • UMLS:C0949658 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, matrix_excluded, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, matrix_txgnn_grouping_cardiovascular_disorder, mondo_top_grouping_musculoskeletal_system_disorder, inferred_rare, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cardiovascular_disorder, matrix_txgnn_grouping_member, rare, mondo_top_grouping_cardiovascular_disorder, harrisons_view_member, harrisons_view_musculoskeletal_system_disorder, harrisons_view_hereditary_disease

ClinGen label
familial hypertrophic cardiomyopathy [ NCIT:C84773 DOID:0080326 ]

exactMatch

http://linkedlifedata.com/resource/umls/id/C0949658

http://purl.obolibrary.org/obo/DOID_0080326

http://identifiers.org/snomedct/471885006

http://identifiers.org/mesh/D024741

http://identifiers.org/medgen/183649

https://omim.org/phenotypicSeries/PS192600

http://purl.obolibrary.org/obo/NCIT_C84773

id

MONDO:0024573

should conform to

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