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DO Term : brain small vessel disease 2 [DOID:0112314] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34.
  • synonyms:
  • 614483,
  • OMIM:614483,
  • porencephaly 2,
  • BSVD2
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Disease

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Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents