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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
mucopolysaccharidosis IX
Summary
- Definition
- A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.
- Super Class
- mucopolysaccharidosis
External Links
- Disease Ontology
- DOID:0050809
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q12794 | Hyaluronidase-1 | |
| Q12891 | Hyaluronidase-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003170 | Abnormal acetabulum morphology |
| HP:0004322 | Short stature |
| HP:0004626 | Lumbar scoliosis |
| HP:0000403 | Recurrent otitis media |
| HP:0010485 | Hyperextensibility at elbow |
| HP:0000176 | Submucous cleft hard palate |
| HP:0005280 | Depressed nasal bridge |
| HP:0100769 | Synovitis |
| HP:0003621 | Juvenile onset |
| HP:0000007 | Autosomal recessive inheritance |
