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DO Term : autosomal dominant adult-onset proximal spinal muscular atrophy [DOID:0111194] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13.

synonyms:
autosomal dominant adult-onset proximal SMA,
Finkel disease,
autosomal dominant adult proximal spinal muscular atrophy,
182980,
SMAFK,
autosomal dominant late-onset spinal muscular atrophy, Finkel type,
OMIM:182980,
ORDO:209335,
Finkel late-adult type SMA

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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