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Echinobase
Summary Literature (0)
DOID:0112314 - brain small vessel disease 2

Disease Ontology Definition: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: BSVD2, porencephaly 2,

Echinobase Genes :


OMIM:
MIM:614483 - porencephaly 2; poren2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a)