Rhizomelic Chondrodysplasia Punctate Type 4
Disease ID: disease_node_19144
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:616154, ORDO:438178 |
|---|---|
| Subclassof | DOID_2580 |
| Data Source | DOID |
| Doid Label | rhizomelic chondrodysplasia punctate type 4 |
| Doid Description | 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. |
| Disease Node Id | disease_node_19144 |
| Doid Id | DOID_0081243 |
| Label | Rhizomelic Chondrodysplasia Punctate Type 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Chondrodysplasia Punctata, Rhizomelic(ID:disease_node_9832) (Disease)