| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Concept |
| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/2000/01/rdf-schema#subClassOf | http://purl.uniprot.org/core/Concept |
| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/2000/01/rdf-schema#subClassOf | http://purl.uniprot.org/keywords/9995 |
| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/2000/01/rdf-schema#comment | "Protein which, if defective, causes Diamond-Blackfan anemia, a rare congenital non-regenerative hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies."xsd:string |
| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/2004/02/skos/core#prefLabel | "Diamond-Blackfan anemia"xsd:string |
| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/2004/02/skos/core#altLabel | "BDS"xsd:string |
| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/2004/02/skos/core#altLabel | "DBA"xsd:string |
| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/2004/02/skos/core#altLabel | "Aase syndrome"xsd:string |
| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/2004/02/skos/core#altLabel | "Aase-Smith syndrome II"xsd:string |
| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/2004/02/skos/core#altLabel | "Blackfan-Diamond disease"xsd:string |
| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/2004/02/skos/core#altLabel | "Blackfan-Diamond syndrome"xsd:string |
| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/2004/02/skos/core#altLabel | "Chronic congenital aregenerative anemia"xsd:string |
| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/2004/02/skos/core#altLabel | "Congenital erythroid hypoplastic anemia"xsd:string |
| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/2004/02/skos/core#altLabel | "Erythrogenesis imperfecta"xsd:string |
| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/2004/02/skos/core#altLabel | "Pure red cell aplasia"xsd:string |
| http://purl.uniprot.org/keywords/1024 | http://www.w3.org/2004/02/skos/core#altLabel | "Congenital hypoplastic anemia of Blackfan and Diamond"xsd:string |
| http://purl.uniprot.org/keywords/1024 | http://purl.uniprot.org/core/category | http://purl.uniprot.org/keywords/9995 |
| http://purl.uniprot.org/diseases/6526 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1024 |
| http://purl.uniprot.org/diseases/395 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1024 |
| http://purl.uniprot.org/diseases/4958 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1024 |
| http://purl.uniprot.org/diseases/5473 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1024 |
| http://purl.uniprot.org/diseases/3608 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1024 |
| http://purl.uniprot.org/diseases/5472 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1024 |
| http://purl.uniprot.org/diseases/397 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1024 |
| http://purl.uniprot.org/diseases/3972 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1024 |