JSON

congenital myopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0019952

Synonyms: congenital myopathy

This is just here as a test because I lose it

Term information

database cross reference
  • icd11.foundation:1185572073 (https://orcid.org/0000-0001-5208-3432)
  • DOID:0081337 (MONDO:equivalentTo)
  • NANDO:2100234 (https://orcid.org/0000-0003-0011-764X)
  • NANDO:1200477 (https://orcid.org/0000-0003-0011-764X)
  • MEDGEN:124381 (MONDO:equivalentTo)
  • MedDRA:10062547 (Orphanet:97245/e)
  • OMIMPS:117000 (MONDO:equivalentTo)
  • Orphanet:97245 (MONDO:equivalentTo)
  • GARD:5898 (MONDO:GARD)
  • UMLS:C0270960 (MONDO:equivalentTo)
  • DOID:0080100 (MONDO:equivalentObsolete)
Subsets

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

ClinGen label
congenital myopathy [ DOID:0081337 Orphanet:97245 ]

closeMatch

http://identifiers.org/meddra/10062547

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:0019952

exactMatch

https://omim.org/phenotypicSeries/PS117000

http://purl.obolibrary.org/obo/DOID_0081337

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1185572073

http://linkedlifedata.com/resource/umls/id/C0270960

http://identifiers.org/medgen/124381

http://www.orpha.net/ORDO/Orphanet_97245

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0100167

has related synonym

myopathy congenital

Batten Turner congenital myopathy

id

MONDO:0019952

should conform to

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

term tracker item

https://github.com/monarch-initiative/mondo/issues/5658

https://github.com/monarch-initiative/mondo/issues/4069