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microcephalic osteodysplastic primordial dwarfism type II
Summary
- Synonym
-
- Majewski osteodysplastic primordial dwarfism type II
- osteodysplastic primordial dwarfism type II
- Definition
- An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.
- Super Class
- autosomal recessive disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0060609
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 | |
| 56994 | CHPT1 | choline phosphotransferase 1 | |
| 64132 | XYLT2 | xylosyltransferase 2 | |
| 79623 | GALNT14 | polypeptide N-acetylgalactosaminyltransferase 14 | |
| 79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00329 | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform | |
| O95271 | Poly [ADP-ribose] polymerase tankyrase-1 | |
| O95470 | Sphingosine-1-phosphate lyase 1 | |
| P04040 | Catalase | |
| P04156 | Major prion protein | |
| P04406 | Glyceraldehyde-3-phosphate dehydrogenase | |
| P06744 | Glucose-6-phosphate isomerase | |
| P07585 | Decorin | |
| P08842 | Steryl-sulfatase | |
| P09874 | Poly [ADP-ribose] polymerase 1 |
