Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0000347 | Micrognathia |
| HP:0003273 | Hip contracture |
| HP:0000176 | Submucous cleft hard palate |
| HP:0001636 | Tetralogy of Fallot |
| HP:0003577 | Congenital onset |
| HP:0000518 | Cataract |
