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DO Term : Sorsby's fundus dystrophy [DOID:0090114] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12.
  • synonyms:
  • hemorrhagic macular dystrophy,
  • OMIM:136900,
  • SFD,
  • pseudoinflammatory fundus dystrophy of Sorsby,
  • 136900
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents