| Metadata | |
|---|---|
| ID | DOID:0110781 |
| Name | hereditary spastic paraplegia 30 |
| Definition | A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/21487076, https://pubmed.ncbi.nlm.nih.gov/31488895/ |
| Xrefs | |
| SKOS |
exactMatch ORDO:101010 broadMatch ICD10CM:G11.4 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal spastic paraplegia type 30 [EXACT] SPG30 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal inheritance |