Schnyder corneal dystrophy

Term ID

DOID:0060456

Synonyms

• corneal dystrophy crystalline of Schnyder
• crystalline stromal dystrophy
• hereditary crystalline stromal dystrophy of Schnyder
• SCCD
• Schnyder crystalline 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/

References

• GARD:9277
• MESH:C535475
• OMIM:121800
• ORDO:98967
• SNOMEDCT_US_2023_03_01:420212002
• UMLS_CUI:C0271287

Ontology

Human Disease   ( DOID:0060456 )