| Metadata | |
|---|---|
| ID | DOID:0070827 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070827 Copy |
| Name | X-linked female-restricted neurodegenerative disorder with Parkinsonism and cognitive impairment |
| Definition | A Parkinsonism that occurs in females characterized by progressive parkinsonism movement abnormalities associated with variable cognitive impairment and/or psychiatric abnormalities that has_material_basis_in heterozygous mutation in the SLC9A6 gene on chromosome Xq26. https://pubmed.ncbi.nlm.nih.gov/39810750/, https://pubmed.ncbi.nlm.nih.gov/27142213/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6012689 exactMatch MIM:301142 |
| Subsets |
DO_rare_slim |
| Synonyms |
NDPACX [EXACT] |
| Parent Relationships |
is_a X-linked dominant disease is_a Parkinsonism |
| Subclass Logical Relationships |
has material basis in some X-linked dominant inheritance |