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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

GARD:9277

MESH:C535475

OMIM:121800

ORDO:98967

SNOMEDCT_US_2023_03_01:420212002

UMLS_CUI:C0271287

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 stromal dystrophy

is_a autosomal dominant disease

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