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Metadata
ID DOID:0061235
PURL http://purl.obolibrary.org/obo/DOID_0061235 Copy
Name brain small vessel disease 5 with osteoporosis
Definition A brain small vessel disease characterized by onset of neurologic symptoms in adulthood. Features include cognitive decline, psychiatric disturbances, osteoporosis with frequent fractures, and cerebral infarctions associated with brain imaging abnormalities, including lacunal infarcts, microbleeds, enlarged perivascular spaces, white matter abnormalities, and brain atrophy that has_material_basis_in heterozygous mutation in the ARHGEF15 gene on chromosome 17p13.
https://pubmed.ncbi.nlm.nih.gov/36929019/
Xrefs

MIM:621331

Parent Relationships

is_a autosomal dominant disease

is_a brain small vessel disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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