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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:0001118 | Juvenile cataract |
| HP:0001999 | Abnormal facial shape |
| HP:0000319 | Smooth philtrum |
| HP:0003698 | Difficulty standing |
| HP:0001272 | Cerebellar atrophy |
| HP:0000253 | Progressive microcephaly |
| HP:0002553 | Highly arched eyebrow |
| HP:0001250 | Seizure |
| HP:0005280 | Depressed nasal bridge |
| HP:0000400 | Macrotia |
