| http://purl.uniprot.org/diseases/6074 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/6074 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature due to spondyloepiphyseal dysplasia, and motor and intellectual delay. Brain imaging shows abnormalities including delayed myelination, leukoencephalopathy, and cerebellar hypoplasia."xsd:string |
| http://purl.uniprot.org/diseases/6074 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/209 |
| http://purl.uniprot.org/diseases/6074 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/901 |
| http://purl.uniprot.org/diseases/6074 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/991 |
| http://purl.uniprot.org/diseases/6074 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/242 |
| http://purl.uniprot.org/diseases/6074 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/619260 |
| http://purl.uniprot.org/diseases/6074 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D002493 |
| http://purl.uniprot.org/diseases/6074 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D006319 |
| http://purl.uniprot.org/diseases/6074 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D010009 |
| http://purl.uniprot.org/diseases/6074 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D057130 |
| http://purl.uniprot.org/diseases/6074 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN296249 |
| http://purl.uniprot.org/diseases/6074 | http://www.w3.org/2004/02/skos/core#prefLabel | "Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis"xsd:string |
| http://purl.uniprot.org/diseases/6074 | http://purl.uniprot.org/core/mnemonic | "SHILCA"xsd:string |
| http://purl.uniprot.org/diseases/6074 | http://www.w3.org/2004/02/skos/core#altLabel | "Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis"xsd:string |
| http://purl.uniprot.org/uniprot/Q9HAN9#SIPAFF18B8FB178DA03 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/6074 |
| http://purl.uniprot.org/uniprot/#_794EC9106851EA40_up.disease_C13F856E38B151A9 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/6074 |