Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: HTT (Hsa)
Disease
Source: DOID:14330
Definition: A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Genes: HTT (Hsa)
Disease
Source: DOID:12858
Definition: A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
Genes: HTT (Hsa)
Disease
Source: DOID:1289
Definition: A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
Genes: HTT (Hsa)
Disease
Source: DOID:224
Definition: A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.
Genes: HTT (Hsa)