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| General Information | |||
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| Term | Schnyder corneal dystrophy | ID (Ontology) | DOID:0060456 (Human Disease) |
| Definition | A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36. | ||
| Also Known As | "corneal dystrophy crystalline of Schnyder" ; "crystalline stromal dystrophy" ; "hereditary crystalline stromal dystrophy of Schnyder" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ corneal dystrophy | |__stromal dystrophy___________| Schnyder corneal dystrophy 1 rec. |
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| Is a |
autosomal dominant disease stromal dystrophy |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:9277 MESH:C535475 MIM:121800 ORDO:98967 SNOMEDCT_US_2023_03_01:420212002 UMLS_CUI:C0271287 |
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