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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
macular corneal dystrophy
Summary
- Synonym
-
- Fehr corneal dystrophy
- MACULAR DYSTROPHY, CORNEAL, 1
- Definition
- A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.
- Super Class
- stromal dystrophy
External Links
- Disease Ontology
- DOID:2565
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 444431 | chst6.L | carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 L homeolog | Xenopus laevis (African clawed frog) | |
| 100495636 | chst6 | carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 | Xenopus tropicalis (tropical clawed frog) | |
| 100496630 | chst4 | carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 | Xenopus tropicalis (tropical clawed frog) | |
| 108715440 | chst6.S | carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 S homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9GZX3 | Carbohydrate sulfotransferase 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100689 | Decreased corneal thickness |
| HP:0001131 | Corneal dystrophy |
| HP:0003621 | Juvenile onset |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0007754 | Macular dystrophy |
