| Metadata | |
|---|---|
| ID | DOID:0081243 |
| Name | rhizomelic chondrodysplasia punctate type 4 |
| Definition | A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency. https://pubmed.ncbi.nlm.nih.gov/28523433/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471318/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |