autosomal dominant distal hereditary motor neuronopathy 2 Disease Ontology Browser

Disease Ontology Browser

autosomal dominant distal hereditary motor neuronopathy 2 (DOID:0111206)
Alliance: disease page
Synonyms: autosomal dominant adult spinal muscular atrophy IIA; distal hereditary motor neuronopathy type 2; distal hereditary motor neuronopathy type 2A; distal hereditary motor neuropathy type II; distal hereditary motor neuropathy type IIA; HMN2; HMN2A; HMN II; HMN IIA; spinal Charcot-Marie-Tooth disease IIA
Alt IDs: OMIM:158590, MESH:C580044, ORDO:139525, UMLS_CUI:C3711384
Definition: An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.

Disease References using Mouse Models (1)

Allelic Composition	Genetic Background	Reference	Phenotypes
Hspb8tm1Vti/Hspb8tm1Vti	involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCrl	J:284796	View

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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