Charcot-Marie-tooth disease type 1I Disease Ontology Browser

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Disease Ontology Browser

Charcot-Marie-tooth disease type 1I (DOID:0070834)
Alliance: disease page
Synonyms: CMT1I
Alt IDs: OMIM:619742, UMLS_CUI:C5676914
Definition: A Charcot-Marie-Tooth disease type 1 characterized by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs that has_material_basis_in heterozygous mutation in the POLR3B gene on chromosome 12q23. This disease is progressive.

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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