| Metadata | |
|---|---|
| ID | DOID:0110854 |
| Name | rhizomelic chondrodysplasia punctata type 5 |
| Definition | A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31. https://www.ncbi.nlm.nih.gov/pubmed/26220973 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Rcdp5 [EXACT] |
| Parent Relationships |