Experimental Factor Ontology

Last uploaded: January 16, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0002921 http://purl.obolibrary.org/obo/MONDO_0002921
Preferred Name	congenital structural myopathy
Definitions	A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.
Synonyms	centronuclear myopathy
Type	http://www.w3.org/2002/07/owl#Class

definition	A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.
preferred label	congenital structural myopathy
label	congenital structural myopathy
prefLabel	congenital structural myopathy
exactMatch	http://purl.obolibrary.org/obo/NCIT_C84648 http://linkedlifedata.com/resource/umls/id/C0752282 http://purl.obolibrary.org/obo/DOID_422 http://identifiers.org/mesh/D020914 http://identifiers.org/medgen/156050
database_cross_reference	MEDGEN:156050 NCIT:C84648 MESH:D020914 UMLS:C0752282 NANDO:2200867 NANDO:1200482 DOID:422 See more See less
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5656
notation	MONDO:0002921
in_subset	http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare
has_related_synonym	centronuclear myopathy
id	MONDO:0002921
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019952
type	http://www.w3.org/2002/07/owl#Class

Delete	Subject	Author	Type	Created
No notes to display