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Items: 19

1.

Fuchs endothelial corneal dystrophy

Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity. [from ORDO]

MedGen UID:
830928
Concept ID:
CN207231
Disease or Syndrome
2.

Dystrophy

a degenerative disorder [from CHV]

MedGen UID:
569248
Concept ID:
C0333606
Pathologic Function
3.

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
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.

Proteolytic Processing

Generally irreversible, Proteolytic Processing involves removal of peptide segments from proteins, usually from the N- or C-terminus and often during polypeptide maturation, to regulate activity, location, or stability. [from NCI]

MedGen UID:
271417
Concept ID:
C1514570
Molecular Function
6.

Localized

Being confined or restricted to a particular location. [from HPO]

MedGen UID:
98236
Concept ID:
C0392752
Spatial Concept
7.

Separated from cohabitee

Indicates a person living apart from his/her spouse by legal arrangement. [from NCI]

MedGen UID:
88651
Concept ID:
C0086972
Finding
8.

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
9.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
10.

Heredity

The transmission of traits encoded in GENES from parent to offspring. [from MeSH]

MedGen UID:
6814
Concept ID:
C0019266
Molecular Function
11.

Eye disease

A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. [from NCI]

MedGen UID:
5092
Concept ID:
C0015397
Disease or Syndrome
12.

Fuchs corneal dystrophy

An autosomal dominant, bilateral, slowly progressive degeneration of corneal endothelial cells with thickening of Descemet's membrane and accumulation of excrescences. It results in corneal edema and loss of vision. [from NCI]

MedGen UID:
4800
Concept ID:
C0016781
Disease or Syndrome
13.

Hereditary corneal dystrophy

A family of inherited disorders characterized by the gradual, progressive accumulation of extraneous material on one or both corneas, which, without proper treatment, can impair vision. [from NCI]

MedGen UID:
3618
Concept ID:
C0010035
Disease or Syndrome
14.

Disorder of cornea

A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. [from NCI]

MedGen UID:
3617
Concept ID:
C0010034
Disease or Syndrome
15.

Corneal dystrophy, Fuchs endothelial, 3

Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800). [from GTR]

MedGen UID:
442479
Concept ID:
C2750451
Disease or Syndrome
16.

Stromal corneal dystrophy

MedGen UID:
20973
Concept ID:
C0038457
Disease or Syndrome
17.

Groenouw Dystrophies

MedGen UID:
9092
Concept ID:
C0018245
Disease or Syndrome
18.

Honey-droplet corneal dystrophy

MedGen UID:
799167
Concept ID:
CN207218
Disease or Syndrome
19.

Anterior chamber of eye normal

MedGen UID:
662028
Concept ID:
C0578612
Finding
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