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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
lethal congenital contracture syndrome 3
Summary
- Synonym
-
- Israeli Bedouin type B multiple contracture syndrome
- Definition
- A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13.
- Super Class
- lethal congenital contracture syndrome
External Links
- Disease Ontology
- DOID:0060653
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60331 | Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma |
