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DO Term : Huntington's disease-like 2 [DOID:0090104] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24.
  • synonyms:
  • Huntington disease-like 2,
  • OMIM:606438,
  • ORDO:98934,
  • HDL2,
  • ICD10CM:G10,
  • 606438
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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