| http://purl.uniprot.org/diseases/191 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/191 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability."xsd:string |
| http://purl.uniprot.org/diseases/191 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/242 |
| http://purl.uniprot.org/diseases/191 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/210900 |
| http://purl.uniprot.org/diseases/191 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D001816 |
| http://purl.uniprot.org/diseases/191 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0005859 |
| http://purl.uniprot.org/diseases/191 | http://www.w3.org/2004/02/skos/core#prefLabel | "Bloom syndrome"xsd:string |
| http://purl.uniprot.org/diseases/191 | http://purl.uniprot.org/core/mnemonic | "BLM"xsd:string |
| http://purl.uniprot.org/diseases/191 | http://www.w3.org/2004/02/skos/core#altLabel | "BS"xsd:string |
| http://purl.uniprot.org/diseases/191 | http://www.w3.org/2004/02/skos/core#altLabel | "BLS"xsd:string |
| http://purl.uniprot.org/diseases/191 | http://www.w3.org/2004/02/skos/core#altLabel | "MGRISCE1"xsd:string |
| http://purl.uniprot.org/diseases/191 | http://www.w3.org/2004/02/skos/core#altLabel | "Microcephaly, growth restriction, and increased sister chromatid exchange 1"xsd:string |
| http://purl.uniprot.org/uniprot/P54132#SIP6958599506F08088 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/191 |
| http://purl.uniprot.org/annotation/VAR_006901 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/191 |
| http://purl.uniprot.org/annotation/VAR_006902 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/191 |
| http://purl.uniprot.org/annotation/VAR_006903 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/191 |
| http://purl.uniprot.org/annotation/VAR_009138 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/191 |
| http://purl.uniprot.org/annotation/VAR_009139 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/191 |
| http://purl.uniprot.org/annotation/VAR_009140 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/191 |
| http://purl.uniprot.org/annotation/VAR_016032 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/191 |
| http://purl.uniprot.org/annotation/VAR_016033 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/191 |
| http://purl.uniprot.org/uniprot/#_884DAD233C5CE96E_up.disease_CE5890913DF863AE | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/191 |