| Metadata | |
|---|---|
| ID | DOID:0070642 |
| Name | hereditary spastic paraplegia 72B |
| Definition | A hereditary spastic paraplegia that has_material_basis_in compound heterozygous mutation in the REEP2 gene on chromosome 5q31. https://pubmed.ncbi.nlm.nih.gov/24388663/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620606 broadMatch ORDO:401849 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive spastic paraplegia 72 [EXACT] spastic paraplegia 72B [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |