Sorsby fundus dystrophy

Preferred Label : Sorsby fundus dystrophy;

Symbol : SFD;

CISMeF acronym : SFD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macular dystrophy, hemorrhagic; Fundus dystrophy, pseudoinflammatory, of sorsby;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tissue inhibitor of metalloproteinase 3 gene (TIMP3, 188826.0001);

Prefixed ID : #136900;

Details

Origin ID

136900;

UMLS CUI

C1850938;

Automatic exact mappings (from CISMeF team)
- ATPase H+ transporting V1 subunit H [HGNC gene]
- Sorsby fundus dystrophy [ICD-11 More detail]
- TIMP3 wt Allele [NCIt concept]
- Tissue Inhibitor of Metalloproteinase 3 Measurement [NCIt concept]
- symbol withdrawn SFD [HGNC gene]
Currated CISMeF NLP mapping
- Sorsby fundus dystrophy [Disease (Nov.)]
- Sorsby pseudoinflammatory fundus dystrophy [ORDO Disease]
- Sorsby pseudoinflammatory fundus dystrophy (disorder) [SNOMED CT concept]
- Sorsby's fundus dystrophy [DO Concept]
- fundus dystrophy, pseudoinflammatory, of sorsby [MeSH concept]
- fundus dystrophy, pseudoinflammatory, of sorsby [MeSH Supplementary Concept]
DO Cross reference
- Sorsby's fundus dystrophy [DO Concept]
Genes related to phenotype
- Tissue inhibitor of metalloproteinase 3 [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Glaucoma [HPO term]
- Macular dystrophy [HPO term]
ORDO concept(s)
- Sorsby pseudoinflammatory fundus dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sorsby fundus dystrophy [Disease (Nov.)]
- Sorsby pseudoinflammatory fundus dystrophy (disorder) [SNOMED CT concept]
- Sorsby's fundus dystrophy [DO Concept]
- fundus dystrophy, pseudoinflammatory, of sorsby [MeSH Supplementary Concept]
- fundus dystrophy, pseudoinflammatory, of sorsby [MeSH concept]

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