| http://purl.uniprot.org/diseases/1925 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/1925 | http://www.w3.org/2000/01/rdf-schema#comment | "An ocular disease characterized by bilateral, progressive corneal opacification, and reduced corneal sensitivity. Onset occurs in the first decade, usually between ages 5 and 9. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. The disease is due to deposition of an unsulfated keratan sulfate both within the intracellular space (within the keratocytes and endothelial cells) and in the extracellular corneal stroma. Macular corneal dystrophy is divided into the clinically indistinguishable types I, IA, and II based on analysis of the normally sulfated, or antigenic, keratan sulfate levels in serum and immunohistochemical evaluation of the cornea. Patients with types I and IA macular corneal dystrophy have undetectable serum levels of antigenic keratan sulfate, whereas those with type II macular corneal dystrophy have normal or low levels, depending on the population examined."xsd:string |
| http://purl.uniprot.org/diseases/1925 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1212 |
| http://purl.uniprot.org/diseases/1925 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/217800 |
| http://purl.uniprot.org/diseases/1925 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D003317 |
| http://purl.uniprot.org/diseases/1925 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1636149 |
| http://purl.uniprot.org/diseases/1925 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1691013 |
| http://purl.uniprot.org/diseases/1925 | http://www.w3.org/2004/02/skos/core#prefLabel | "Macular dystrophy, corneal"xsd:string |
| http://purl.uniprot.org/diseases/1925 | http://purl.uniprot.org/core/mnemonic | "MCD"xsd:string |
| http://purl.uniprot.org/diseases/1925 | http://www.w3.org/2004/02/skos/core#altLabel | "Corneal dystrophy macular type"xsd:string |
| http://purl.uniprot.org/diseases/1925 | http://www.w3.org/2004/02/skos/core#altLabel | "Groenouw type II corneal dystrophy"xsd:string |
| http://purl.uniprot.org/diseases/1925 | http://www.w3.org/2004/02/skos/core#altLabel | "MCDC1"xsd:string |
| http://purl.uniprot.org/diseases/1925 | http://www.w3.org/2004/02/skos/core#altLabel | "Macular corneal dystrophy type I"xsd:string |
| http://purl.uniprot.org/diseases/1925 | http://www.w3.org/2004/02/skos/core#altLabel | "Macular corneal dystrophy type II"xsd:string |
| http://purl.uniprot.org/uniprot/Q9GZX3#SIPA4C815CC80968787 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1925 |
| http://purl.uniprot.org/annotation/VAR_021417 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1925 |
| http://purl.uniprot.org/annotation/VAR_021418 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1925 |
| http://purl.uniprot.org/annotation/VAR_021419 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1925 |
| http://purl.uniprot.org/annotation/VAR_021420 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1925 |
| http://purl.uniprot.org/annotation/VAR_021421 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1925 |
| http://purl.uniprot.org/annotation/VAR_021422 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1925 |
| http://purl.uniprot.org/annotation/VAR_021423 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1925 |
| http://purl.uniprot.org/annotation/VAR_021424 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1925 |
| http://purl.uniprot.org/annotation/VAR_021425 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1925 |
| http://purl.uniprot.org/annotation/VAR_021426 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/1925 |