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DO Term : ITM2B-related cerebral amyloid angiopathy 2 [DOID:0070030] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2.

synonyms:
Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis,
HOOE,
117300,
Familial Danish Dementia,
OMIM:117300,
Heredopathia Ophthalmootoencephalica,
FDD

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

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