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DO Term : autosomal recessive distal hereditary motor neuronopathy 6 [DOID:0081425] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness in early infancy and that has_material_basis_in homozygous mutation in the REEP1 gene on chromosome 2p11.
  • synonyms:
  • OMIM:620011,
  • 620011
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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