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DO Term : spinal muscular atrophy with progressive myoclonic epilepsy [DOID:0111527] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22.

synonyms:
Jankovic-Rivera syndrome,
UMLS_CUI:C1834569,
hereditary myoclonus-progressive distal muscular atrophy syndrome,
GARD:3875,
ORDO:2590,
SMAPME,
SNOMEDCT_US_2023_03_01:703524005,
SMA-PME,
MESH:C537563,
159950,
OMIM:159950,
GARD:3044

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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