|  Help  |  About  |  Contact Us

DO Term : choreaacanthocytosis [DOID:0050766] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.
  • synonyms:
  • ORDO:2388,
  • choreo-acanthocytosis,
  • Levine-Critchley syndrome,
  • UMLS_CUI:C0393576,
  • NCI:C84926,
  • MESH:D054546,
  • SNOMEDCT_US_2023_03_01:26848004,
  • 200150,
  • GARD:3956,
  • OMIM:200150
Quick Links:
 
Quick Links:
 

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