| Metadata | |
|---|---|
| ID | DOID:0060456 |
| Name | Schnyder corneal dystrophy |
| 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. https://pubmed.ncbi.nlm.nih.gov/23169578/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:420212002 |
| Subsets |
DO_rare_slim |
| Synonyms |
corneal dystrophy crystalline of Schnyder [EXACT] crystalline stromal dystrophy [EXACT] hereditary crystalline stromal dystrophy of Schnyder [EXACT] SCCD [EXACT] Schnyder crystalline corneal dystrophy [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a stromal dystrophy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |