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Items: 1 to 20 of 33

1.

En(a-) phenotype

MedGen UID:
714462
Concept ID:
C1292209
Finding
2.

Retinal degeneration

A deterioration of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. [from HPO]

MedGen UID:
48432
Concept ID:
C0035304
Finding; Pathologic Function
3.

Retinitis pigmentosa

Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by Kaiser et al., 2004). Juvenile Retinitis Pigmentosa Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (see 204000), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Autosomal recessive forms of juvenile retinitis pigmentosa can be caused by mutation in the SPATA7 (609868), LRAT (604863), and TULP1 (602280) genes (see LCA3, 604232, LCA14, 613341, and LCA15, 613843, respectively). An autosomal dominant form of juvenile retinitis pigmentosa (see 604393) is caused by mutation in the AIPL1 gene (604392). [from GTR]

MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome
4.

Retinitis

Inflammation of the RETINA. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (CHORIORETINITIS) and of the OPTIC DISK (neuroretinitis). [from MeSH]

MedGen UID:
19765
Concept ID:
C0035333
Disease or Syndrome
5.

Inosine

A purine nucleoside that has hypoxanthine linked by the N9 nitrogen to the C1 carbon of ribose. It is an intermediate in the degradation of purines and purine nucleosides to uric acid and in pathways of purine salvage. It also occurs in the anticodon of certain transfer RNA molecules. (Dorland, 28th ed) [from MeSH]

MedGen UID:
9477
Concept ID:
C0021528
Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
6.

Edema

Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE. [from MeSH]

MedGen UID:
4451
Concept ID:
C0013604
Sign or Symptom
7.

Normal limits

MedGen UID:
617810
Concept ID:
C0442816
Finding
8.

Prolonged

Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection). [from HPO]

MedGen UID:
615082
Concept ID:
C0439590
Temporal Concept
9.

European origin

MedGen UID:
603959
Concept ID:
C0425355
Finding
10.

Autosomal dominant retinitis pigmentosa

MedGen UID:
573213
Concept ID:
C0339525
Congenital Abnormality
11.

Rod-cone dystrophy

Progressive rod photoreceptor dysfunction and loss that leads to night blindness and loss of peripheral visual field, either as the prevailing problem or occurring at least as severely as cone dysfunction. Occurs most often as retinitis pigmentosa (Hereditary degeneration and atrophy of the retina). [from HPO]

MedGen UID:
504473
Concept ID:
CN000477
Finding
12.

Autosomal dominant inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [from HPO]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
13.

Multifocal

Arising from, pertaining to, or having many locations. [from NCI]

MedGen UID:
59976
Concept ID:
C0205292
Spatial Concept
14.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
15.

Swelling

Enlargement; expansion in size; sign of inflammation [from NCI]

MedGen UID:
21042
Concept ID:
C0038999
Finding
16.

Retinaldehyde

A carotenoid constituent of visual pigments. It is the oxidized form of retinol which functions as the active component of the visual cycle. It is bound to the protein opsin forming the complex rhodopsin. When stimulated by visible light, the retinal component of the rhodopsin complex undergoes isomerization at the 11-position of the double bond to the cis-form; this is reversed in "dark" reactions to return to the native trans-configuration. [from MeSH]

MedGen UID:
19764
Concept ID:
C0035331
Organic Chemical; Pharmacologic Substance; Vitamin
17.

Degenerative abnormality

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

MedGen UID:
3705
Concept ID:
C0011164
Pathologic Function
18.

Retinal dystrophy

A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues. [from MeSH]

MedGen UID:
208903
Concept ID:
C0854723
Disease or Syndrome; Finding
19.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
20.

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
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