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Items: 4

1.

Spinal paraplegia

MedGen UID:
78832
Concept ID:
C0278115
Sign or Symptom
2.

Paraplegia

Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness. [from MeSH]

MedGen UID:
45323
Concept ID:
C0030486
Disease or Syndrome
3.

Aneurysm

An aneurysm is a bulge or ballooning in the wall of an artery. Arteries are blood vessels that carry oxygen-rich blood from the heart to other parts of the body. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death. . Most aneurysms occur in the aorta, the main artery that runs from the heart through the chest and abdomen. Aneurysms also can happen in arteries in the brain, heart and other parts of the body. If an aneurysm in the brain bursts, it causes a stroke. Aneurysms can develop and become large before causing any symptoms. Often doctors can stop aneurysms from bursting if they find and treat them early. They use imaging tests to find aneurysms. Often aneurysms are found by chance during tests done for other reasons. Medicines and surgery are the two main treatments for aneurysms. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
8076
Concept ID:
C0002940
Disease or Syndrome
4.

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 OMIM]

MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome
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