Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

congenital structural myopathy
Synonyms
Definitions

A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.

ID

http://purl.obolibrary.org/obo/DOID_422

database_cross_reference

UMLS_CUI:C0752282

MESH:D020914

NCI:C84648

definition

A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.

disease has basis in

http://purl.obolibrary.org/obo/HP_0001197

has_obo_namespace

disease_ontology

id

DOID:422

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

label

congenital structural myopathy

notation

DOID:422

prefLabel

congenital structural myopathy

subClassOf

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

http://purl.obolibrary.org/obo/DOID_0080015

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