| http://purl.uniprot.org/diseases/33 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/33 | 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). AMD3 is an autosomal recessive form characterized by bilateral aplasia of the fibula, severe brachydactyly, and fusion of carpal and tarsal bones."xsd:string |
| http://purl.uniprot.org/diseases/33 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/242 |
| http://purl.uniprot.org/diseases/33 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/609441 |
| http://purl.uniprot.org/diseases/33 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D004392 |
| http://purl.uniprot.org/diseases/33 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D010009 |
| http://purl.uniprot.org/diseases/33 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1836182 |
| http://purl.uniprot.org/diseases/33 | http://www.w3.org/2004/02/skos/core#prefLabel | "Acromesomelic dysplasia 3"xsd:string |
| http://purl.uniprot.org/diseases/33 | http://purl.uniprot.org/core/mnemonic | "AMD3"xsd:string |
| http://purl.uniprot.org/diseases/33 | http://www.w3.org/2004/02/skos/core#altLabel | "AMDD"xsd:string |
| http://purl.uniprot.org/diseases/33 | http://www.w3.org/2004/02/skos/core#altLabel | "Acromesomelic dysplasia, Demirhan type"xsd:string |
| http://purl.uniprot.org/diseases/33 | http://www.w3.org/2004/02/skos/core#altLabel | "Acromesomelic chondrodysplasia, with genital anomalies"xsd:string |
| http://purl.uniprot.org/diseases/33 | http://www.w3.org/2004/02/skos/core#altLabel | "Chondrodysplasia, acromesomelic, with or without genital anomalies"xsd:string |
| http://purl.uniprot.org/uniprot/O00238#SIPE32C05D7C8CE2531 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/33 |
| http://purl.uniprot.org/annotation/VAR_075520 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/33 |
| http://purl.uniprot.org/annotation/VAR_075521 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/33 |
| http://purl.uniprot.org/uniprot/#_9CC3E35F85FDD328_up.disease_07DD3EEB4E2F3A22 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/33 |