Sorsby Fundus Dystrophy

Preferred Label : Sorsby Fundus Dystrophy;

NCIt synonyms : SFD;

NCIt definition : An autosomal dominant inherited form of retinal dystrophy caused by mutation(s) in the TIMP3 gene, encoding metalloproteinase inhibitor 3. It is characterized by night blindness or sudden loss of visual acuity, usually in the third to fourth decades of life due to choroidal neovascularization.;

Détails

Origin ID

C206110;

Has associated anatomic sites
- Eye [NCIt concept]
- Retina [NCIt concept]
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- Cellosaurus Disease Terminology [NCIt concept]
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- Hereditary Lesion [NCIt concept]
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- Eye [NCIt concept]
- Retina [NCIt concept]
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- TIMP3 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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