epithelial-stromal TGFBI dystrophy

Findings

No curated finding names epithelial-stromal TGFBI dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• corneal dystrophy
• hereditary disease

Narrower terms (8)

• corneal dystrophy, lattice type 3A
• corneal granular dystrophy
• epithelial basement membrane dystrophy
• granular corneal dystrophy type I
• granular corneal dystrophy type II
• lattice corneal dystrophy type I
• Reis-Bucklers corneal dystrophy
• Thiel-Behnke corneal dystrophy

Resolves to: epithelial-stromal TGFBI dystrophy

Also called

corneal dystrophy (disease) caused by mutation in TGFBITGFBI corneal dystrophy (disease)