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DO Term : spinal muscular atrophy, Jokela type [DOID:0081356] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.
  • synonyms:
  • OMIM:615048,
  • ORDO:276435,
  • 615048
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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