http://purl.uniprot.org/diseases/791 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Disease |
http://purl.uniprot.org/diseases/791 | http://www.w3.org/2000/01/rdf-schema#comment | "A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay."xsd:string |
http://purl.uniprot.org/diseases/791 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/977 |
http://purl.uniprot.org/diseases/791 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/478 |
http://purl.uniprot.org/diseases/791 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/mim/272200 |
http://purl.uniprot.org/diseases/791 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://id.nlm.nih.gov/mesh/D052517 |
http://purl.uniprot.org/diseases/791 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C0268263 |
http://purl.uniprot.org/diseases/791 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/medgen/C1720864 |
http://purl.uniprot.org/diseases/791 | http://www.w3.org/2004/02/skos/core#prefLabel | "Multiple sulfatase deficiency"xsd:string |
http://purl.uniprot.org/diseases/791 | http://purl.uniprot.org/core/mnemonic | "MSD"xsd:string |
http://purl.uniprot.org/diseases/791 | http://www.w3.org/2004/02/skos/core#altLabel | "Mucosulfatidosis"xsd:string |
http://purl.uniprot.org/diseases/791 | http://www.w3.org/2004/02/skos/core#altLabel | "Sulfatidosis juvenile Austin type"xsd:string |
http://purl.uniprot.org/uniprot/P15289#SIP0AA7629184E39AD4 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/791 |
http://purl.uniprot.org/uniprot/P15848#SIP55C789D1B36D634A | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/791 |
http://purl.uniprot.org/uniprot/Q8NBK3#SIPA23908B7BC537E60 | http://purl.uniprot.org/core/disease | http://purl.uniprot.org/diseases/791 |
http://purl.uniprot.org/annotation/VAR_016053 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/791 |
http://purl.uniprot.org/annotation/VAR_016054 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/791 |
http://purl.uniprot.org/annotation/VAR_016055 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/791 |
http://purl.uniprot.org/annotation/VAR_016056 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/791 |
http://purl.uniprot.org/annotation/VAR_016057 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/791 |
http://purl.uniprot.org/annotation/VAR_016058 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/791 |
http://purl.uniprot.org/annotation/VAR_016059 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/791 |
http://purl.uniprot.org/annotation/VAR_016060 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/791 |
http://purl.uniprot.org/annotation/VAR_019050 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/791 |
http://purl.uniprot.org/annotation/VAR_019051 | http://www.w3.org/2004/02/skos/core#related | http://purl.uniprot.org/diseases/791 |