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DO Term : autosomal dominant distal hereditary motor neuronopathy 12 [DOID:0111205] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2.
  • synonyms:
  • distal HMN VB,
  • distal hereditary motor neuronopathy type 5B,
  • 614751,
  • distal spinal muscular atrophy type VB,
  • OMIM:614751
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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