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autosomal recessive intellectual developmental disorder 12
Summary
- Definition
- An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0081180
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 402789 | st3gal3 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Xenopus tropicalis (tropical clawed frog) | |
| 108715547 | LOC108715547 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q11203 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001249 | Intellectual disability |
