Experimental Factor Ontology

Last uploaded: November 18, 2024
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Preferred Name

congenital myopathy
Synonyms

myopathy congenital

Batten Turner congenital myopathy

congenital myopathy
ID

http://purl.obolibrary.org/obo/MONDO_0019952
closeMatch

http://identifiers.org/meddra/10062547
curated_content_resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0019952
database_cross_reference

NANDO:2100234

DOID:0080100

OMIMPS:117000

MedDRA:10062547

NANDO:1200477

DOID:0081337

UMLS:C0270960

MEDGEN:124381

Orphanet:97245

icd11.foundation:1185572073

GARD:5898
exactMatch

http://identifiers.org/medgen/124381

https://omim.org/phenotypicSeries/PS117000

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

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

http://purl.obolibrary.org/obo/Orphanet_97245

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

congenital myopathy
has_related_synonym

myopathy congenital

Batten Turner congenital myopathy
IAO_0000233

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

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

MONDO:0019952
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#clingen

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping
label

congenital myopathy
notation

MONDO:0019952
preferred label

congenital myopathy
prefLabel

congenital myopathy
subClassOf

http://purl.obolibrary.org/obo/MONDO_0700223

http://www.ebi.ac.uk/efo/EFO_0004145
excluded_subClassOf

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