DESCRIBE <http://purl.uniprot.org/diseases/4264>

Subject	Predicate	Object
http://purl.uniprot.org/diseases/4264	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/4264	http://www.w3.org/2000/01/rdf-schema#comment	"An autosomal recessive disorder characterized by cataracts, short-stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism."xsd:string
http://purl.uniprot.org/diseases/4264	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://purl.uniprot.org/keywords/209
http://purl.uniprot.org/diseases/4264	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://purl.uniprot.org/keywords/898
http://purl.uniprot.org/diseases/4264	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://purl.uniprot.org/keywords/622
http://purl.uniprot.org/diseases/4264	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://purl.uniprot.org/mim/616007
http://purl.uniprot.org/diseases/4264	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://id.nlm.nih.gov/mesh/D001848
http://purl.uniprot.org/diseases/4264	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://id.nlm.nih.gov/mesh/D002386
http://purl.uniprot.org/diseases/4264	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://id.nlm.nih.gov/mesh/D006319
http://purl.uniprot.org/diseases/4264	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://id.nlm.nih.gov/mesh/D009477
http://purl.uniprot.org/diseases/4264	http://www.w3.org/2000/01/rdf-schema#seeAlso	http://purl.uniprot.org/medgen/CN221141
http://purl.uniprot.org/diseases/4264	http://www.w3.org/2004/02/skos/core#prefLabel	"Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia"xsd:string
http://purl.uniprot.org/diseases/4264	http://purl.uniprot.org/core/mnemonic	"CAGSSS"xsd:string
http://purl.uniprot.org/uniprot/Q9NSE4#SIP5EDE524BF2EC0D7D	http://purl.uniprot.org/core/disease	http://purl.uniprot.org/diseases/4264
http://purl.uniprot.org/annotation/VAR_072591	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4264
http://purl.uniprot.org/annotation/VAR_083400	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4264
http://purl.uniprot.org/annotation/VAR_083401	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4264
http://purl.uniprot.org/annotation/VAR_083402	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4264
http://purl.uniprot.org/annotation/VAR_083403	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4264
http://purl.uniprot.org/annotation/VAR_083404	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4264
http://purl.uniprot.org/annotation/VAR_084826	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4264
http://purl.uniprot.org/annotation/VAR_084827	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4264
http://purl.uniprot.org/annotation/VAR_084828	http://www.w3.org/2004/02/skos/core#related	http://purl.uniprot.org/diseases/4264
http://purl.uniprot.org/uniprot/#_CE1BE008C691A5E6_up.disease_3B6CD90BD76793DF	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/diseases/4264