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rhizomelic chondrodysplasia punctata type 2
Summary
- Synonym
-
- Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
- Dhapat Deficiency
- Dihydroxyacetonephosphate Acyltransferase Deficiency
- Glyceronephosphate O-Acyltransferase Deficiency
- Gnpat Deficiency
- Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
- Rcdp2
- Definition
- A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.
- Super Class
- rhizomelic chondrodysplasia punctata
External Links
- Disease Ontology
- DOID:0110852
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002832 | Calcific stippling |
| HP:0000252 | Microcephaly |
| HP:0005792 | Short humerus |
| HP:0001249 | Intellectual disability |
| HP:0010864 | Intellectual disability, severe |
| HP:0001508 | Failure to thrive |
| HP:0000463 | Anteverted nares |
| HP:0003498 | Disproportionate short stature |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002650 | Scoliosis |
