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DESCRIBE <http://purl.uniprot.org/diseases/1953>
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http://purl.uniprot.org/diseases/1953
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/1953
http://www.w3.org/2000/01/rdf-schema#comment
"Autosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects."
xsd:string
http://purl.uniprot.org/diseases/1953
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/mim/236700
http://purl.uniprot.org/diseases/1953
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/medgen/C0948368
http://purl.uniprot.org/diseases/1953
http://www.w3.org/2004/02/skos/core#prefLabel
"McKusick-Kaufman syndrome"
xsd:string
http://purl.uniprot.org/diseases/1953
http://purl.uniprot.org/core/mnemonic
"MKKS"
xsd:string
http://purl.uniprot.org/uniprot/Q9NPJ1#SIPF6E838BFED1D3A53
http://purl.uniprot.org/core/disease
http://purl.uniprot.org/diseases/1953
http://purl.uniprot.org/annotation/VAR_009864
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/1953
http://purl.uniprot.org/annotation/VAR_009866
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/1953
http://purl.uniprot.org/annotation/VAR_009867
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/1953
http://purl.uniprot.org/uniprot/#_2F3866877F12A7CB_up.disease_EAF5C437C1AB3AC5
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/diseases/1953