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1.

Megalocornea

Megalocornea is an inherited eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as 'anterior megalophthalmos,' since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. X-linked recessive inheritance is the most common pattern, accounting for the male preponderance of the disorder (summary by Skuta et al., 1983). Megalocornea sometimes occurs as part of the Marfan syndrome (154700). Genetic Heterogeneity of Megalocornea Autosomal recessive megalocornea has been reported (249300). [from OMIM]

MedGen UID:
138008
Concept ID:
C0344530
Congenital Abnormality; Disease or Syndrome
2.

Megalocornea

An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. [from HPO]

MedGen UID:
223913
Concept ID:
C1167712
Finding
3.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
4.

Deep anterior chamber

Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased. [from HPO]

MedGen UID:
602219
Concept ID:
C0423280
Finding
5.

Illness (finding)

A state of ill health, bodily malfunction, or discomfort. [from NCI]

MedGen UID:
526241
Concept ID:
C0221423
Finding; Sign or Symptom
6.

Corneal arcus

A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years. [from HPO]

MedGen UID:
504718
Concept ID:
CN001017
Finding
7.

Arcus juvenilis

MedGen UID:
473061
Concept ID:
C0339268
Congenital Abnormality
8.

Cataract

MedGen UID:
368085
Concept ID:
C1962983
Finding; Pathologic Function
9.

Mild

Mild; asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated. [from SNOMEDCT_US]

MedGen UID:
268697
Concept ID:
C1513302
Finding
10.

Triggered by

In medicine, a specific event that starts a process or that causes a particular outcome. For example, chemotherapy, painful treatments, or the smells, sounds, and sights that go with them may trigger anxiety and fear in a patient who has cancer. In allergies, exposure to mold, pollen or dust may trigger sneezing, watery eyes, and coughing. [from NCI]

MedGen UID:
252950
Concept ID:
C1444748
Qualitative Concept
11.

Functional disorder

Deranged function in an individual or an organ that is due to a disease. (MedicineNet.com) [from NCI]

MedGen UID:
124450
Concept ID:
C0277785
Pathologic Function; Qualitative Concept
12.

Presenile cataracts

Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. [from HPO]

MedGen UID:
56349
Concept ID:
C0154971
Disease or Syndrome; Finding
13.

Arcus corneae

A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years. [from HPO]

MedGen UID:
8179
Concept ID:
C0003742
Anatomical Abnormality; Disease or Syndrome; Finding
14.

Tissue Degeneration

Disturbance of cell integrity and deterioration of normal tissue, cells or organs. [from NCI_CDISC]

MedGen UID:
3705
Concept ID:
C0011164
Pathologic Function
15.

Malformations of Cortical Development, Group I

Cortical malformations secondary to abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS in NEUROGENESIS. This group includes congenital MICROCEPHALIES; MICROLISSENCEPHALIES, megalencephalies, HEMIMEGALENCEPHALIES and cortical dysplasias with balloon cells. [from MeSH]

MedGen UID:
827134
Concept ID:
C3850040
Congenital Abnormality; Disease or Syndrome
16.

Intellectual functioning disability

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabiled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) [from MeSH]

MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
17.

Neurodevelopmental disorder

Neurodevelopmental disorder is a behavioural and cognitive disorder with onset during the developmental period that involve impaired or aberrant development of intellectual, motor, or social functions. [from SNOMEDCT_US]

MedGen UID:
453059
Concept ID:
C1535926
Mental or Behavioral Dysfunction
18.

Megalencephaly

Primary megalencephaly is defined as a head circumference about the 98th percentile that most likely is due to brain enlargement and is not secondary to disease (review by Petersson et al., 1999). [from OMIM]

MedGen UID:
439426
Concept ID:
C2720434
Congenital Abnormality
19.

Malformation of cortical development

Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay. [from MeSH]

MedGen UID:
364975
Concept ID:
C1955869
Disease or Syndrome
20.

X-linked hereditary disease

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. [from MeSH]

MedGen UID:
222910
Concept ID:
C1138434
Disease or Syndrome
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