About: http://www.idref.fr/040659127/id

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An Entity of Type : skos:Concept, within Data Space : data.idref.fr associated with source document(s)

Attributes	Values
type	Concept
seeAlso	http://www.idref.fr/11460035X/id
sameAs	http://id.nlm.nih.gov/mesh/D000474
notation	C16.320.565.100.187 C18.452.648.100.187
alternative label	Alcaptonuria Alcaptonurias Alkaptonuria Déficit en oxydase homogentisique Homogentisic Acidura Maladie de l'urine noire Homogentisic Acid Oxidase Deficiency
preferred label	Alcaptonurie
is in scheme	http://id.nlm.nih.gov/mesh
note	An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS
is seeAlso of	http://www.idref.fr/040796582/id http://www.idref.fr/11460035X/id
is primary topic of	http://www.idref.fr/040659127
is Subject of	http://www.sudoc.fr/187691517/id http://www.sudoc.fr/269686916/id

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