Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 26

1.

Recurrence

The return of a sign, symptom, or disease after a remission. [from MeSH]

MedGen UID:
416712
Concept ID:
C2825055
Pathologic Function
2.

Microphthalmia syndromic 3

SOX2-related eye disorders are characterized by anophthalmia and/or microphthalmia that is usually bilateral, severe, and apparent at birth or by prenatal ultrasound examination. Other common findings include brain malformations, esophageal atresia, cryptorchidism and/or micropenis in males, and hypogonadotropic hypogonadism and/or pituitary hypoplasia. Postnatal growth failure, delayed motor development, and learning disability are common. [from GTR]

MedGen UID:
347232
Concept ID:
C1859773
Disease or Syndrome
3.

Anophthalmia

MedGen UID:
340863
Concept ID:
C1855428
4.

Anophthalmia

A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit. [from NCI]

MedGen UID:
314
Concept ID:
C0003119
Congenital Abnormality
5.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
6.

Anophthalmia - microphthalmia

MedGen UID:
879773
Concept ID:
CN235161
Finding
7.

Indicated

MedGen UID:
731837
Concept ID:
C1444656
Finding
8.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
9.

Microphthalmia

A developmental anomaly characterized by abnormal smallness of one or both eyes. [from HPO]

MedGen UID:
504501
Concept ID:
CN000533
Finding
10.

Anophthalmia-microphthalmia syndrome

Microphthalmia, anophthalmia, and coloboma comprise the MAC spectrum of ocular malformations. Microphthalmia refers to a globe with a total axial length that is at least two standard deviations below the mean for age. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus). Coloboma refers to the ocular malformations that result from failure of closure of the optic fissure. Chorioretinal coloboma refers to coloboma of the retina and choroid. Iris coloboma causes the iris to appear keyhole-shaped. Microphthalmia, anophthalmia, and coloboma may be unilateral or bilateral; when bilateral they may occur in any combination. [from GTR]

MedGen UID:
468558
Concept ID:
CN120488
Disease or Syndrome
11.

Mosaicism

The presence of more than one genetically distinct cell line in germ and/or somatic cells. [from NCI]

MedGen UID:
452472
Concept ID:
C0392053
Cell or Molecular Dysfunction
12.

Bilateral microphthalmos

A congenital abnormality characterized by the presence of two abnormally small eye globes. [from NCI]

MedGen UID:
334420
Concept ID:
C1843496
Congenital Abnormality; Finding
13.

Base Pair

The paired nucleotides in a DNA or RNA sequence. [from NCI]

MedGen UID:
108706
Concept ID:
C0600436
Molecular Function
14.

Bilateral

Being present on both sides of the body. [from HPO]

MedGen UID:
65977
Concept ID:
C0238767
Spatial Concept
15.

Peripheral

On or near an edge or constituting an outer boundary; the outer area. [from NCI]

MedGen UID:
59959
Concept ID:
C0205100
Spatial Concept
16.

Microphthalmos

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 GTR]

MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
17.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
18.

Mutagenesis

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
19.

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
20.

Pregnancy

The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth. [from NCI]

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center