| http://purl.uniprot.org/diseases/435 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2000/01/rdf-schema#comment | "A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome."xsd:string |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/242 |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/248 |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/130070 |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D004535 |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1869122 |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2004/02/skos/core#prefLabel | "Ehlers-Danlos syndrome, spondylodysplastic type, 1"xsd:string |
| http://purl.uniprot.org/diseases/435 | http://purl.uniprot.org/core/mnemonic | "EDSSPD1"xsd:string |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2004/02/skos/core#altLabel | "Defective biosynthesis of PDS"xsd:string |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2004/02/skos/core#altLabel | "Defective biosynthesis of proteodermatan sulfate"xsd:string |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2004/02/skos/core#altLabel | "EDSP1"xsd:string |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2004/02/skos/core#altLabel | "EDSSLA"xsd:string |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2004/02/skos/core#altLabel | "Ehlers-Danlos syndrome, progeroid type, 1"xsd:string |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2004/02/skos/core#altLabel | "Xylosylprotein 4-beta-galactosyltransferase deficiency"xsd:string |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2004/02/skos/core#altLabel | "Galactosyltransferase I deficiency"xsd:string |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2004/02/skos/core#altLabel | "Ehlers-Danlos syndrome with short stature and limb anomalies"xsd:string |
| http://purl.uniprot.org/diseases/435 | http://www.w3.org/2004/02/skos/core#altLabel | "XGPT deficiency"xsd:string |
| http://purl.uniprot.org/uniprot/Q9UBV7#SIP7BAB9DF7AA1CE818 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/435 |
| http://purl.uniprot.org/annotation/VAR_010293 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/435 |
| http://purl.uniprot.org/annotation/VAR_010294 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/435 |
| http://purl.uniprot.org/uniprot/#_F5C35129BDB163EB_up.disease_96863DDB322BF913 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/435 |