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

gard_rare, otar, disease_grouping, rare, clingen, ordo_group_of_disorders

ClinGen label
congenital myopathy

closeMatch

http://identifiers.org/meddra/10062547

exactMatch

https://omim.org/phenotypicSeries/PS117000

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

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