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Items: 4

1.

Celiac disease-epilepsy-cerebral calcification syndrome

Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. [from ORDO]

MedGen UID:
341654
Concept ID:
C1856930
Disease or Syndrome
2.

Granular corneal dystrophy

A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene. [from NCI]

MedGen UID:
42290
Concept ID:
C0018179
Disease or Syndrome
3.

Stromal corneal dystrophy

The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy. [from ORDO]

MedGen UID:
20973
Concept ID:
C0038457
Disease or Syndrome
4.

Honey-droplet corneal dystrophy

A rare superficial corneal dystrophy characterized by progressive opacity of the most anterior corneal layers. Slit-lamp examination reveals typical confluent translucent subepithelial deposits, extending in size and growing into clusters of golden droplets covering the cornea with disease progression. Patients present variably compromised visual acuity, depending on the stage of the disease. In advanced stages, decreased corneal sensation may lead to corneal trophic changes, perforation, and permanent visual loss. [from ORDO]

MedGen UID:
799167
Concept ID:
CN207218
Disease or Syndrome
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