http://purl.uniprot.org/diseases/1008 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/1008 | http://www.w3.org/2000/01/rdf-schema#comment | "A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability."xsd:string |
http://purl.uniprot.org/diseases/1008 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/991 |
http://purl.uniprot.org/diseases/1008 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/242 |
http://purl.uniprot.org/diseases/1008 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/210600 |
http://purl.uniprot.org/diseases/1008 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D004392 |
http://purl.uniprot.org/diseases/1008 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D008831 |
http://purl.uniprot.org/diseases/1008 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0265202 |
http://purl.uniprot.org/diseases/1008 | http://www.w3.org/2004/02/skos/core#prefLabel | "Seckel syndrome 1"xsd:string |
http://purl.uniprot.org/diseases/1008 | http://purl.uniprot.org/core/mnemonic | "SCKL1"xsd:string |
http://purl.uniprot.org/diseases/1008 | http://www.w3.org/2004/02/skos/core#altLabel | "Bird-headed dwarfism"xsd:string |
http://purl.uniprot.org/diseases/1008 | http://www.w3.org/2004/02/skos/core#altLabel | "Microcephalic primordial dwarfism I"xsd:string |
http://purl.uniprot.org/diseases/1008 | http://www.w3.org/2004/02/skos/core#altLabel | "Nanocephalic dwarfism"xsd:string |
http://purl.uniprot.org/diseases/1008 | http://www.w3.org/2004/02/skos/core#altLabel | "Seckel-type dwarfism"xsd:string |
http://purl.uniprot.org/uniprot/Q13535#SIPDA06D2C0C959F61B | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/1008 |
http://purl.uniprot.org/uniprot/#_303D11B521E77597_up.disease_CE52C844C742BA20 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/diseases/1008 |