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Results: 11

1.

Cataract 40

Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss. People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved. Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
[from GHR]

MedGen UID:
442883
Concept ID:
C2752078
Congenital Abnormality
2.

Cataract, congenital, with microcornea or slight microphthalmia

MedGen UID:
419655
Concept ID:
C2930878
Disease or Syndrome
3.

Congenital total cataract

MedGen UID:
75616
Concept ID:
C0266539
Disease or Syndrome
4.

Glycine

A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter. [from MeSH]

MedGen UID:
6636
Concept ID:
C0017890
Pharmacologic Substance
5.

Cavity

MedGen UID:
734294
Concept ID:
C1510420
Anatomical Abnormality
6.

Able

MedGen UID:
721424
Concept ID:
C1299581
Finding
7.

Assisted

MedGen UID:
693567
Concept ID:
C1269765
Finding
8.

protein folding

Processes involved in the formation of TERTIARY PROTEIN STRUCTURE. [from MeSH]

MedGen UID:
58195
Concept ID:
C0162847
Molecular Function
9.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
10.

Protein binding

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. [from MeSH]

MedGen UID:
18704
Concept ID:
C0033618
Molecular Function
11.

PPP1R11 protein, human

MedGen UID:
147729
Concept ID:
C0526128
Pharmacologic Substance

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