| 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/ |
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| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |