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Results: 1 to 20 of 22

1.

Retinitis pigmentosa 2

Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease. [from GeneReviews]

MedGen UID:
394544
Concept ID:
C2681923
Disease or Syndrome
2.

Adolescent nephronophthisis

MedGen UID:
346809
Concept ID:
C1858392
Disease or Syndrome
3.

Myristate

14 carbon straight chain saturated fatty acid common in membrane phospholipids and fatty acylated proteins. [from CRISP]

MedGen UID:
51290
Concept ID:
C0129533
Pharmacologic Substance
4.

Degeneration of retina

A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304) [from MeSH]

MedGen UID:
48432
Concept ID:
C0035304
Disease or Syndrome
5.

Retinitis pigmentosa

Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease. [from GeneReviews]

MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome
6.

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
7.

Neural tube defect

Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (206500) (Detrait et al., 2005). Spina bifida occulta (SBO) is a bony defect of the spine covered by normal skin. It is mild form of spina bifida and is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634). [from OMIM]

MedGen UID:
18009
Concept ID:
C0027794
Finding
8.

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:
504488
Concept ID:
CN000512
Finding
9.

Retinitis pigmentosa

Hereditary degeneration and atrophy of the retina. [from HPO]

MedGen UID:
504473
Concept ID:
CN000477
Finding
10.

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
Pharmacologic Substance
11.

Tissue Degeneration

MedGen UID:
3705
Concept ID:
C0011164
Pathologic Function
12.

Biochemical Processes

Chemical reactions or functions, enzymatic activities, and metabolic pathways of living things. [from MeSH]

MedGen UID:
267723
Concept ID:
C1511130
Molecular Function
13.

Protein binding

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. [from MeSH]

MedGen UID:
18704
Concept ID:
C0033618
Molecular Function
14.

Retinitis pigmentosa 37

Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease. [from GeneReviews]

MedGen UID:
410004
Concept ID:
C1970163
Disease or Syndrome
15.

Retinitis pigmentosa 25

Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease. [from GeneReviews]

MedGen UID:
350427
Concept ID:
C1864446
Disease or Syndrome
16.

Cone-rod dystrophy 3

MedGen UID:
349030
Concept ID:
C1858806
Disease or Syndrome
17.

Myelodysplasia of the spinal cord

MedGen UID:
87487
Concept ID:
C0344479
Congenital Abnormality
18.

Error occurred: cannot get document summary

ID:
449611

19.

Cystic retinal degeneration

MedGen UID:
374208
Concept ID:
C1839362
Finding
20.

Retinitis Pigmentosa 22

MedGen UID:
355384
Concept ID:
C1865140
Disease or Syndrome

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