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Items: 19

1.

Myopia

A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness. [from MeSH]

MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
2.

Myopia

An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. [from HPO]

MedGen UID:
504487
Concept ID:
CN000511
Finding
3.

Disorder of refraction

A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia. [from NCI]

MedGen UID:
20508
Concept ID:
C0034951
Disease or Syndrome
4.

Not significant

MedGen UID:
697304
Concept ID:
C1273937
Finding
5.

Progressive Encephalomyelitis with Rigidity

MedGen UID:
349287
Concept ID:
C1861457
Disease or Syndrome
6.

Persistent hyperinsulinemic hypoglycemia of infancy

Familial hyperinsulinism (referred to as FHI in this GeneReview) is characterized by hypoglycemia that ranges from severe neonatal-onset, difficult-to-manage disease to childhood-onset disease with mild symptoms and difficult-to-diagnose hypoglycemia. Neonatal-onset disease manifests within hours to two days after birth. Childhood-onset disease manifests during the first months or years of life. In the newborn period, presenting symptoms may be nonspecific, including seizures, hypotonia, poor feeding, and apnea. In severe cases, serum glucose concentrations are typically extremely low and thus easily recognized, whereas in milder cases, variable and mild hypoglycemia may make the diagnosis more difficult. Even within the same family, disease manifestations can range from mild to severe. Individuals with autosomal recessive familial hyperinsulinism, caused by pathogenic variants in either ABCC8 or KCNJ11 (FHI-KATP), tend to be large for gestational age and usually present with severe refractory hypoglycemia in the first 48 hours of life; affected infants usually respond only partially to diet or medical management (i.e., diazoxide therapy) and thus may require pancreatic resection. Individuals with autosomal dominant FHI-KATP tend to be appropriate for gestational age at birth, to present at approximately age one year (range: 2 days - 30 years), and to respond to diet and diazoxide therapy. Exceptions to both of these generalities have been reported. FHI-GCK, caused by pathogenic variants in GCK, may be much milder than FHI-KATP; however, some persons have severe, diazoxide-unresponsive hypoglycemia. FHI-HADH, caused by pathogenic variants in HADH, tends to be relatively mild, although severe cases have been reported. Individuals with FHI-HNF4A, caused by pathogenic variants in HNF4A, are typically born large for gestational age and have mild features that respond to diazoxide treatment. FHI-UCP2, caused by pathgoenic variants in UCP2, is a rare cause of diazoxide-responsive FH1. Hyperammonemia/hyperinsulinism (HA/HI) is associated with mild-to-moderate hyperammonemia and with relatively mild, late-onset hypoglycemia; most but not all affected individuals have pathogenic variants in GLUD1. [from GTR]

MedGen UID:
226230
Concept ID:
C1257959
7.

Ametropia

An optical condition in the eye where there is an error of refraction of light rays on the retina.(On-line Medical Dictionary) [from NCI]

MedGen UID:
282884
Concept ID:
C1527310
Disease or Syndrome
8.

Family health status

The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members. [from MeSH]

MedGen UID:
109024
Concept ID:
C0600220
Finding
9.

Risk factor

An aspect of personal behavior or lifestyle, environmental exposure, inborn or inherited characteristic, which, on the basis of epidemiological evidence, is known to be associated with a health-related condition considered important to prevent. [from MeSH]

MedGen UID:
48477
Concept ID:
C0035648
Finding
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.

Schooling

An indication of the years of schooling completed in graded public, private, or parochial schools, and in colleges, universities, or professional schools. [from NCI]

MedGen UID:
3977
Concept ID:
C0013658
Finding
13.

Myopia, susceptibility to

MedGen UID:
418993
Concept ID:
C2931111
Disease or Syndrome
14.

Myopia 6

Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700. [from GTR]

MedGen UID:
324696
Concept ID:
C1837148
Disease or Syndrome
15.

Boston Diagnostic Aphasia Examination score

MedGen UID:
903439
Concept ID:
C4274443
Finding
16.

Multilingual Aphasia Examination score

MedGen UID:
897738
Concept ID:
C4274455
Finding
17.

Methods time measurement score

MedGen UID:
754741
Concept ID:
C2959560
Finding
18.

Hours worked per week

MedGen UID:
749213
Concept ID:
C2584953
Finding
19.

Language read

MedGen UID:
721812
Concept ID:
C1299999
Finding
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