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rhizomelic chondrodysplasia punctate type 4
Summary
- 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.
- Super Class
- rhizomelic chondrodysplasia punctata
External Links
- Disease Ontology
- DOID:0081243
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001305 | Dandy-Walker malformation |
| HP:0000219 | Thin upper lip vermilion |
| HP:0001510 | Growth delay |
| HP:0000508 | Ptosis |
| HP:0003196 | Short nose |
| HP:0000316 | Hypertelorism |
| HP:0001263 | Global developmental delay |
| HP:0004322 | Short stature |
| HP:0001249 | Intellectual disability |
| HP:0002540 | Inability to walk |
