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1.

Stickler syndrome

Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity. [from GeneReviews]

MedGen UID:
120521
Concept ID:
C0265253
Congenital Abnormality; Disease or Syndrome
2.

Hearing impairment

A general term for the complete or partial loss of the ability to hear from one or both ears. [from MeSH]

MedGen UID:
235586
Concept ID:
C1384666
Finding
3.

Osteoarthritis susceptibility 1

Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to Osteoarthritis Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11. Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401). [from OMIM]

MedGen UID:
45244
Concept ID:
C0029408
Disease or Syndrome
4.

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:
44558
Concept ID:
C0027092
Disease or Syndrome
5.

Glaucoma

Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.In most people with glaucoma, the damage to the optic nerves is caused by increased pressure within the eyes (intraocular pressure). Intraocular pressure depends on a balance between fluid entering and leaving the eyes.Usually glaucoma develops in older adults, in whom the risk of developing the disorder may be affected by a variety of medical conditions including high blood pressure (hypertension) and diabetes mellitus, as well as family history. The risk of early-onset glaucoma depends mainly on heredity.Structural abnormalities that impede fluid drainage in the eye may be present at birth and usually become apparent during the first year of life. Such abnormalities may be part of a genetic disorder that affects many body systems, called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma.Other individuals experience early onset of primary open-angle glaucoma, the most common adult form of glaucoma. If primary open-angle glaucoma develops during childhood or early adulthood, it is called juvenile open-angle glaucoma.
[from GHR]

MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
6.

Cataract

A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are. -Blurry vision. -Colors that seem faded. -Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. -Not being able to see well at night. -Double vision . -Frequent prescription changes in your eye wear . Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute.  [from MedlinePlus]

MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality; Finding; Finding
7.

Retinal detachment

Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (McNiel and McPherson, 1971). [from OMIM]

MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome; Finding
8.

Cleft palate

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). [from HPO]

MedGen UID:
3107
Concept ID:
C0008925
Congenital Abnormality; Disease or Syndrome
9.

Optically empty vitreous

Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. [from HPO]

MedGen UID:
852201
Concept ID:
CN234802
Finding
10.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
11.

Visual loss

Disturbance of eyesight. [from NCI]

MedGen UID:
784038
Concept ID:
C3665386
Finding
12.

Osteoarthritis

MedGen UID:
505348
Concept ID:
CN002503
Finding
13.

Visual loss

Loss of visual acuity (implying that vision was better at a certain timepoint in life - otherwise the term reduced visual acuity should be used (or a subclass of that). [from HPO]

MedGen UID:
504502
Concept ID:
CN000537
Finding
14.

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
15.

Cleft palate

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). [from HPO]

MedGen UID:
504379
Concept ID:
CN000170
Finding
16.

Severe Myopia

A severe form of myopia with greater than -6.00 diopters. [from HPO]

MedGen UID:
451276
Concept ID:
CN116735
Finding
17.

Hearing impairment

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
446352
Concept ID:
CN000341
Finding
18.

Abnormality of the skeletal system

An abnormality of the skeletal system. [from HPO]

MedGen UID:
428236
Concept ID:
CN000866
Finding
19.

Abnormality of the ocular region

MedGen UID:
427404
Concept ID:
CN000269
Anatomical Abnormality
20.

Glaucoma

MedGen UID:
409541
Concept ID:
C1962986
Finding
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