| http://purl.uniprot.org/diseases/4366 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/4366 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 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/diseases/4366 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/1024 |
| http://purl.uniprot.org/diseases/4366 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/300946 |
| http://purl.uniprot.org/diseases/4366 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D029503 |
| http://purl.uniprot.org/diseases/4366 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN228774 |
| http://purl.uniprot.org/diseases/4366 | http://www.w3.org/2004/02/skos/core#prefLabel | "Diamond-Blackfan anemia 14, with mandibulofacial dysostosis"xsd:string |
| http://purl.uniprot.org/diseases/4366 | http://purl.uniprot.org/core/mnemonic | "DBA14"xsd:string |
| http://purl.uniprot.org/uniprot/Q969E8#SIPB5720D74A964AA1E | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/4366 |
| http://purl.uniprot.org/annotation/VAR_073396 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4366 |
| http://purl.uniprot.org/uniprot/#_4D3334EDECBDB870_up.disease_8ADBC2DD220E5288 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/4366 |