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OCHRONOSE [1 record]
Record 1 - internal organization data 2024-02-13
Record 1, English
Record 1, Subject field(s)
- Human Diseases
- Genetics
Record 1, Main entry term, English
- ochronosis
1, record 1, English, ochronosis
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
An abnormal brown pigmentation of tissue ... specifically that resulting from the accumulation of a melanin-like pigment derived from homogentisic acid in the metabolic disorder alkaptonuria. 2, record 1, English, - ochronosis
Record 1, French
Record 1, Domaine(s)
- Maladies humaines
- Génétique
Record 1, Main entry term, French
- ochronose
1, record 1, French, ochronose
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Glucopathie récessive très rare caractérisée par une coloration due à des dépôts gris, bruns, noirs ou bleu-noirâtre dans les cartilages et les tendons, visibles par transparence surtout aux oreilles, au nez et sur la sclérotique et par une ostéo-arthropathie dégénérative. 2, record 1, French, - ochronose
Record number: 1, Textual support number: 1 CONT
[L'ochronose] est une manifestation de l'alcaptonurie, enzymopathie génétique autosomique récessive due à un déficit du métabolisme de la tyrosine et de la phénylalanine par absence d'acide homogentisique-oxydase : celle-ci entraîne un noircissement des urines à l'air. Un seul gène est en cause (III q2). 2, record 1, French, - ochronose
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Enfermedades humanas
- Genética
Record 1, Main entry term, Spanish
- ocronosis
1, record 1, Spanish, ocronosis
correct, feminine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 DEF
Coloración negruzca que aparece en los tejidos mesenquimatosos y en los cartílagos (escleróticas y orejas, principalmente) por el depósito del polímero negro del ácido homogentísico y que constituye una manifestación clínica peculiar de la alcaptonuria, como consecuencia de una deficiencia de la oxidasa del ácido homogentísico. 1, record 1, Spanish, - ocronosis
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