CST3-related cerebral amyloid angiopathy

Summary

DOID:0070027 - CST3-related cerebral amyloid angiopathy

Disease Ontology Definition:A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21.

Synonyms: Amyloidosis VI, Amyloidosis, Cerebroarterial, Icelandic Type, Cerebral Hemorrhage, Hereditary, with Amyloidosis, Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant, HCHWA, Hereditary Cerebral Hemorrhage with Amyloidosis, Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cst3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007098 - ACys amyloidosis

MONDO:0007098 - ACys amyloidosis

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), cerebral amyloid angiopathy (is_a)