autosomal dominant distal hereditary motor neuronopathy 12 Disease Ontology Browser

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Disease Ontology Browser

autosomal dominant distal hereditary motor neuronopathy 12 (DOID:0111205)
Alliance: disease page
Synonyms: distal hereditary motor neuronopathy type 5B; distal HMN VB; distal spinal muscular atrophy type VB
Alt IDs: OMIM:614751
Definition: An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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