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DO Term : congenital myopathy 21 [DOID:0081353] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31.

synonyms:
620326,
OMIM:620326

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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