| http://purl.uniprot.org/diseases/34 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/34 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD1 is an autosomal recessive form characterized by axial skeletal involvement with wedging of vertebral bodies. All skeletal elements are present but show abnormal rates of linear growth."xsd:string |
| http://purl.uniprot.org/diseases/34 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/242 |
| http://purl.uniprot.org/diseases/34 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/602875 |
| http://purl.uniprot.org/diseases/34 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D004392 |
| http://purl.uniprot.org/diseases/34 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0265278 |
| http://purl.uniprot.org/diseases/34 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1864356 |
| http://purl.uniprot.org/diseases/34 | http://www.w3.org/2004/02/skos/core#prefLabel | "Acromesomelic dysplasia 1"xsd:string |
| http://purl.uniprot.org/diseases/34 | http://purl.uniprot.org/core/mnemonic | "AMD1"xsd:string |
| http://purl.uniprot.org/diseases/34 | http://www.w3.org/2004/02/skos/core#altLabel | "Acromesomelic dysplasia, Maroteaux type"xsd:string |
| http://purl.uniprot.org/diseases/34 | http://www.w3.org/2004/02/skos/core#altLabel | "AMDM"xsd:string |
| http://purl.uniprot.org/diseases/34 | http://www.w3.org/2004/02/skos/core#altLabel | "St. Helena dysplasia"xsd:string |
| http://purl.uniprot.org/uniprot/P20594#SIP5F1C9692AD6493BF | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/34 |
| http://purl.uniprot.org/annotation/VAR_022583 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/34 |
| http://purl.uniprot.org/annotation/VAR_022584 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/34 |
| http://purl.uniprot.org/annotation/VAR_022585 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/34 |
| http://purl.uniprot.org/annotation/VAR_022586 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/34 |
| http://purl.uniprot.org/annotation/VAR_022587 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/34 |
| http://purl.uniprot.org/annotation/VAR_022588 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/34 |
| http://purl.uniprot.org/annotation/VAR_022589 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/34 |
| http://purl.uniprot.org/annotation/VAR_022590 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/34 |
| http://purl.uniprot.org/annotation/VAR_022591 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/34 |
| http://purl.uniprot.org/annotation/VAR_022592 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/34 |
| http://purl.uniprot.org/annotation/VAR_022593 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/34 |
| http://purl.uniprot.org/annotation/VAR_076481 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/34 |