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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) | |
| 496807 | chst5 | carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 | Xenopus tropicalis (tropical clawed frog) | |
| 100495636 | chst6 | carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 | 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 |
|---|---|---|
| O95822 | Malonyl-CoA decarboxylase, mitochondrial | |
| P04040 | Catalase | |
| P04180 | Phosphatidylcholine-sterol acyltransferase | |
| Q6P1J6 | Phospholipase B1, membrane-associated | |
| Q9GZX3 | Carbohydrate sulfotransferase 6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000613 | Photophobia |
| HP:0007856 | Punctate opacification of the cornea |
| HP:0000495 | Recurrent corneal erosions |
| HP:0100689 | Decreased corneal thickness |
| HP:0001939 | Abnormality of metabolism/homeostasis |
| HP:0000484 | Hyperopic astigmatism |
| HP:0012155 | Decreased corneal sensation |
| HP:0001141 | Severely reduced visual acuity |
| HP:0200026 | Ocular pain |
| HP:0000531 | Corneal crystals |
