| http://purl.uniprot.org/diseases/6008 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/6008 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. AMEDS is an autosomal recessive, digenic form characterized by childhood onset of bone marrow failure resulting in aplastic anemia, in association with global developmental delay, intellectual disability, and poor overall growth with short stature."xsd:string |
| http://purl.uniprot.org/diseases/6008 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/619151 |
| http://purl.uniprot.org/diseases/6008 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/991 |
| http://purl.uniprot.org/diseases/6008 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/242 |
| http://purl.uniprot.org/diseases/6008 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D000080983 |
| http://purl.uniprot.org/diseases/6008 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/CN295213 |
| http://purl.uniprot.org/diseases/6008 | http://www.w3.org/2004/02/skos/core#prefLabel | "AMED syndrome, digenic"xsd:string |
| http://purl.uniprot.org/diseases/6008 | http://purl.uniprot.org/core/mnemonic | "AMEDS"xsd:string |
| http://purl.uniprot.org/diseases/6008 | http://www.w3.org/2004/02/skos/core#altLabel | "ADDS"xsd:string |
| http://purl.uniprot.org/diseases/6008 | http://www.w3.org/2004/02/skos/core#altLabel | "Aldehyde degradation deficiency syndrome"xsd:string |
| http://purl.uniprot.org/diseases/6008 | http://www.w3.org/2004/02/skos/core#altLabel | "BMFS7"xsd:string |
| http://purl.uniprot.org/diseases/6008 | http://www.w3.org/2004/02/skos/core#altLabel | "Bone marrow failure syndrome 7, digenic"xsd:string |
| http://purl.uniprot.org/uniprot/P11766#SIP577B55E40B61798B | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/6008 |
| http://purl.uniprot.org/uniprot/P05091#SIP4746306686800B4C | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/6008 |
| http://purl.uniprot.org/annotation/VAR_086835 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6008 |
| http://purl.uniprot.org/annotation/VAR_002248 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/6008 |
| http://purl.uniprot.org/uniprot/#_F969D3B6781599D5_up.disease_48CDD55E1B846404 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/6008 |
| http://purl.uniprot.org/uniprot/#_17C186EC62838324_up.disease_48CDD55E1B846404 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/6008 |