congenital myopathy

Term ID

DOID:0081337

Synonyms

Definition

A myopathy that is characterized by hypotonia and weakness, usually present from birth. https://ijponline.biomedcentral.com/articles/10.1186/s13052-017-0419-z

References

Ontology

Human Disease ( DOID:0081337 )

Relationships

is a type of: myopathy

myopathy Show first 5 Terms
has subtype: Compton-North congenital myopathy congenital myopathy 1A congenital myopathy 1B congenital myopathy 2B congenital myopathy 2C ... Show All 28 Terms

Compton-North congenital myopathy congenital myopathy 1A congenital myopathy 1B congenital myopathy 2B congenital myopathy 2C congenital myopathy 4A congenital myopathy 5 congenital myopathy 6 congenital myopathy 8 congenital myopathy 9A congenital myopathy 9B congenital myopathy 10B congenital myopathy 14 congenital myopathy 15 congenital myopathy 16 congenital myopathy 17 congenital myopathy 18 congenital myopathy 19 congenital myopathy 20 congenital myopathy 21 congenital myopathy 22A congenital myopathy 22B congenital structural myopathy cylindrical spirals myopathy early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome hyaline body myopathy Native American myopathy nemaline myopathy Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models