| Metadata | |
|---|---|
| ID | DOID:0070646 |
| Name | hereditary spastic paraplegia 30B |
| Definition | A hereditary spastic paraplegia 30 that has_material_basis_in homozygous mutation in the KIF1A gene on chromosome 2q37. https://pubmed.ncbi.nlm.nih.gov/21487076/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620607 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive spastic paraplegia 30 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |