| http://purl.uniprot.org/diseases/4730 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
| http://purl.uniprot.org/diseases/4730 | http://www.w3.org/2000/01/rdf-schema#comment | "An autosomal recessive disorder characterized by global developmental delay with infantile onset, intellectual disability, skeletal dysplasia, and short stature. Skeletal findings include flat vertebral bodies with irregular vertebral plates, irregular and flared metaphyses with vertical striations, small and irregular epiphyses, premature carpal ossification and small carpal bones."xsd:string |
| http://purl.uniprot.org/diseases/4730 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/991 |
| http://purl.uniprot.org/diseases/4730 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/242 |
| http://purl.uniprot.org/diseases/4730 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/610442 |
| http://purl.uniprot.org/diseases/4730 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D010009 |
| http://purl.uniprot.org/diseases/4730 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1864872 |
| http://purl.uniprot.org/diseases/4730 | http://www.w3.org/2004/02/skos/core#prefLabel | "Spondyloepimetaphyseal dysplasia, Genevieve type"xsd:string |
| http://purl.uniprot.org/diseases/4730 | http://purl.uniprot.org/core/mnemonic | "SEMDG"xsd:string |
| http://purl.uniprot.org/diseases/4730 | http://www.w3.org/2004/02/skos/core#altLabel | "NANS deficiency"xsd:string |
| http://purl.uniprot.org/diseases/4730 | http://www.w3.org/2004/02/skos/core#altLabel | "SEMD Genevieve type"xsd:string |
| http://purl.uniprot.org/uniprot/Q9NR45#SIPED53CFC0AC39A9D3 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/4730 |
| http://purl.uniprot.org/annotation/VAR_076571 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4730 |
| http://purl.uniprot.org/annotation/VAR_076572 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4730 |
| http://purl.uniprot.org/annotation/VAR_076573 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4730 |
| http://purl.uniprot.org/annotation/VAR_076574 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4730 |
| http://purl.uniprot.org/annotation/VAR_076575 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4730 |
| http://purl.uniprot.org/annotation/VAR_076576 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4730 |
| http://purl.uniprot.org/annotation/VAR_076577 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/4730 |
| http://purl.uniprot.org/uniprot/#_1B1B3FB4078B0223_up.disease_66C12AAA8DA0C787 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/4730 |