| Metadata | |
|---|---|
| ID | DOID:0110802 |
| Name | hereditary spastic paraplegia 50 |
| Definition | A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. https://www.ncbi.nlm.nih.gov/books/NBK535153/, https://www.ncbi.nlm.nih.gov/pubmed/19559397 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
adaptor protein complex 4 deficiency [EXACT] AP-4 deficiency syndrome [EXACT] AP-4-Associated Hereditary Spastic Paraplegia [EXACT] autosomal recessive spastic paraplegia 50 [EXACT] SPG50 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |