| Metadata | |
|---|---|
| ID | DOID:0110799 |
| Name | hereditary spastic paraplegia 47 |
| Definition | A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. https://www.ncbi.nlm.nih.gov/pubmed/21620353, https://www.ncbi.nlm.nih.gov/pubmed/22290197 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive spastic paraplegia 47 [EXACT] CPSQ5 [EXACT] spastic quadriplegic cerebral palsy 5 [EXACT] SPG47 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |