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DO Term : autosomal recessive limb-girdle muscular dystrophy type 2Y [DOID:0110289] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.

synonyms:
muscular dystrophy with progressive weakness, distal contractures and rigid spine,
LGMD2Y,
muscular dystrophy, limb-girdle, type 2Y,
ORDO:424261,
617072,
OMIM:617072,
autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency,
ICD10CM:G71.0,
autosomal recessive muscular dystrophy due to LAP1B deficiency

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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