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Items: 11

1.

Crystalline corneal dystrophy

MedGen UID:
506118
Concept ID:
CN006807
Finding
2.

Corneal dystrophy

An abnormality of the cornea that is characterized by opacity of one or parts of the cornea. [from HPO]

MedGen UID:
504738
Concept ID:
CN001063
Finding
3.

Schnyder crystalline corneal dystrophy

Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterized by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in glare and loss of vision that is postulated to be caused by light scattering. Patients demonstrate a characteristic pattern of corneal opacification dependent on age, and only half have crystalline corneal cholesterol deposits. Patients with noncrystalline disease have a more subtle presentation with only corneal haze, which may be difficult to diagnose (summary by Nickerson et al., 2013). [from OMIM]

MedGen UID:
124391
Concept ID:
C0271287
Disease or Syndrome
4.

Corneal dystrophy

An abnormality of the cornea that is characterized by opacity of one or parts of the cornea. [from HPO]

MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
5.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
6.

Corneal crystals

MedGen UID:
776407
Concept ID:
CN000497
Finding
7.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
8.

Corneal opacity

A reduction of corneal clarity. [from HPO]

MedGen UID:
40485
Concept ID:
C0010038
Finding
9.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
10.

Hereditary eye diseases

Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. [from MeSH]

MedGen UID:
41933
Concept ID:
C0015398
Disease or Syndrome
11.

Corneal Dystrophy, Dominant

MedGen UID:
893608
Concept ID:
CN239349
Disease or Syndrome
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