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MIRAGE
rhizomelic chondrodysplasia punctata type 2
Summary
- Synonym
-
- Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
- DHAPAT deficiency
- Dihydroxyacetonephosphate Acyltransferase Deficiency
- GNPAT deficiency
- Glyceronephosphate O-Acyltransferase 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
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15228 | Dihydroxyacetone phosphate acyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001290 | Generalized hypotonia |
| HP:0008905 | Rhizomelia |
| HP:0000348 | High forehead |
| HP:0003301 | Irregular vertebral endplates |
| HP:0000218 | High palate |
| HP:0004322 | Short stature |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0011800 | Midface retrusion |
| HP:0002644 | Abnormal pelvic girdle bone morphology |
| HP:0000023 | Inguinal hernia |
