| http://purl.uniprot.org/diseases/3388 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/3388 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination."xsd:string |
| http://purl.uniprot.org/diseases/3388 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/209 |
| http://purl.uniprot.org/diseases/3388 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/898 |
| http://purl.uniprot.org/diseases/3388 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/614482 |
| http://purl.uniprot.org/diseases/3388 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/523 |
| http://purl.uniprot.org/diseases/3388 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D000015 |
| http://purl.uniprot.org/diseases/3388 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C3280965 |
| http://purl.uniprot.org/diseases/3388 | http://www.w3.org/2004/02/skos/core#prefLabel | "Huppke-Brendel syndrome"xsd:string |
| http://purl.uniprot.org/diseases/3388 | http://purl.uniprot.org/core/mnemonic | "HPBDS"xsd:string |
| http://purl.uniprot.org/diseases/3388 | http://www.w3.org/2004/02/skos/core#altLabel | "CCHLND"xsd:string |
| http://purl.uniprot.org/diseases/3388 | http://www.w3.org/2004/02/skos/core#altLabel | "Congenital cataracts, hearing loss, and neurodegeneration"xsd:string |
| http://purl.uniprot.org/uniprot/O00400#SIP8CAF7ABA2296823C | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/3388 |
| http://purl.uniprot.org/annotation/VAR_067915 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/3388 |
| http://purl.uniprot.org/uniprot/#_88E4ED71ED45B721_up.disease_FBE530CC2D8B5552 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/3388 |