| Metadata | |
|---|---|
| ID | DOID:0110851 |
| Name | rhizomelic chondrodysplasia punctata type 1 |
| Definition | A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. https://www.ncbi.nlm.nih.gov/pubmed/15679822 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
PBD9 [EXACT] Peroxisome Biogenesis Disorder 9 [EXACT] RCDP1 [EXACT] |
| Parent Relationships |