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DO Term : early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome [DOID:0111333] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2.

synonyms:
ORDO:439212,
EMARDD,
GARD:12199,
OMIM:614399,
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset,
614399,
congenital myopathy 10A

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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