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DO Term : rippling muscle disease 2 [DOID:0060255] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.

synonyms:
DOID:0110302,
GARD:9164,
UMLS_CUI:C1853698,
SNOMEDCT_US_2023_03_01:709281006,
ORDO:265,
autosomal dominant limb-girdle muscular dystrophy type 1C,
ORDO:97238,
606072,
OMIM:606072

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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