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MIRAGE
rhizomelic chondrodysplasia punctata type 3
Summary
- Synonym
-
- AGPS deficiency
- Alkyldihydroxyacetonephosphate Synthase Deficiency
- Alkylglycerone-Phosphate Synthase Deficiency
- RCDP3
- Definition
- A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2.
- Super Class
- rhizomelic chondrodysplasia punctata
External Links
- Disease Ontology
- DOID:0110853
- Mondo Disease Ontology
- MeSH
- ORDO
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00116 | Alkyldihydroxyacetonephosphate synthase, peroxisomal |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005792 | Short humerus |
| HP:0001508 | Failure to thrive |
| HP:0008905 | Rhizomelia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0008873 | Disproportionate short-limb short stature |
| HP:0010655 | Epiphyseal stippling |
| HP:0003097 | Short femur |
