An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Congenital chloride diarrhea (CCD, also congenital chloridorrhea or Darrow Gamble syndrome) is a genetic disorder due to an autosomal recessive mutation on chromosome 7. The mutation is in downregulated-in-adenoma (DRA), a gene that encodes a membrane protein of intestinal cells. The protein belongs to the solute carrier 26 family of membrane transport proteins. More than 20 mutations in the gene are known to date. A rare disease, CCD occurs in all parts of the world but is more common in some populations with genetic founder effects, most notably in Finland.

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dbo:abstract
  • Congenital chloride diarrhea (CCD, also congenital chloridorrhea or Darrow Gamble syndrome) is a genetic disorder due to an autosomal recessive mutation on chromosome 7. The mutation is in downregulated-in-adenoma (DRA), a gene that encodes a membrane protein of intestinal cells. The protein belongs to the solute carrier 26 family of membrane transport proteins. More than 20 mutations in the gene are known to date. A rare disease, CCD occurs in all parts of the world but is more common in some populations with genetic founder effects, most notably in Finland. (en)
dbo:icd10
  • P78.3
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  • 214700 (xsd:integer)
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  • 53689
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dbp:caption
  • This condition is inherited via autosomal recessive manner (en)
dbp:icd
  • P78.3 (en)
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  • 536210.0
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  • Congenital chloride diarrhea (en)
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  • 214700 (xsd:integer)
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  • 53689 (xsd:integer)
dbp:symptoms
  • High volume diarrhea High chloride concentration in stool Low chloride excretion in the urine Hypochloremic alkalosis and hypokalemia (en)
dbp:synonyms
  • Darrow Gamble syndrome (en)
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rdfs:comment
  • Congenital chloride diarrhea (CCD, also congenital chloridorrhea or Darrow Gamble syndrome) is a genetic disorder due to an autosomal recessive mutation on chromosome 7. The mutation is in downregulated-in-adenoma (DRA), a gene that encodes a membrane protein of intestinal cells. The protein belongs to the solute carrier 26 family of membrane transport proteins. More than 20 mutations in the gene are known to date. A rare disease, CCD occurs in all parts of the world but is more common in some populations with genetic founder effects, most notably in Finland. (en)
rdfs:label
  • Congenital chloride diarrhea (en)
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  • Congenital chloride diarrhea (en)
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