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Results: 16

1.

Dentatorubral pallidoluysian atrophy

Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive disorder of ataxia, choreoathetosis, and dementia or character changes in adults and ataxia, myoclonus, epilepsy, and progressive intellectual deterioration in children. The age of onset is from one to 62 years with a mean age of onset of 30 years. The clinical presentation varies depending on the age of onset. The cardinal features in adults are ataxia, choreoathetosis, and dementia. Cardinal features in children are progressive intellectual deterioration, behavioral changes, myoclonus, and epilepsy. [from GeneReviews]

MedGen UID:
155630
Concept ID:
C0751781
Disease or Syndrome
2.

Severe combined immunodeficiency disease

group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels; it is inherited as an X-linked or autosomal recessive defect; about half of the patients with autosomal recessive SCID are deficient in the enzyme adenosine deaminase. [from CRISP]

MedGen UID:
88328
Concept ID:
C0085110
Disease or Syndrome
3.

Thrombocytosis

A hematology test result that indicates the presence of higher than normal platelet counts in the peripheral blood. [from NCI]

MedGen UID:
163397
Concept ID:
C0836924
Disease or Syndrome
4.

Able

MedGen UID:
721424
Concept ID:
C1299581
Finding
5.

Thrombocytosis

Increased numbers of platelets in the peripheral blood. [from HPO]

MedGen UID:
504993
Concept ID:
CN001712
Finding
6.

Agonist

A drug or substance that binds to a receptor inside a cell or on its surface and causes the same action as the substance that normally binds to the receptor. [from NCI]

MedGen UID:
459858
Concept ID:
C2987634
Pharmacologic Substance
7.

Plaque

In medicine, a small, abnormal patch of tissue on a body part or an organ. Plaques may also be a build-up of substances from a fluid, such as cholesterol in the blood vessels. [from NCI]

MedGen UID:
452424
Concept ID:
C0332461
Finding
8.

agonists

Used with chemicals, drugs, and endogenous substances to indicate substances or agents that have affinity for a receptor and intrinsic activity at that receptor. (From Textbook of Pharmacology, 1991, p.16) [from MeSH]

MedGen UID:
116746
Concept ID:
C0243192
Pharmacologic Substance
9.

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
10.

Dental plaque

film that attaches to teeth, often causing dental caries and gingivitis; composed of mucins, secreted from salivary glands, and microorganisms. [from CRISP]

MedGen UID:
8301
Concept ID:
C0011389
Disease or Syndrome
11.

Mediator of inflammation

The endogenous compounds that mediate inflammation (AUTACOIDS) and related exogenous compounds including the synthetic prostaglandins (PROSTAGLANDINS, SYNTHETIC). [from MeSH]

MedGen UID:
66209
Concept ID:
C0243042
Pharmacologic Substance
12.

Immunocompromised Host

Having a weakened immune system caused by certain diseases or treatments. [from NCI_NCI-GLOSS]

MedGen UID:
39272
Concept ID:
C0085393
Finding
13.

Radiation chimera

MedGen UID:
727369
Concept ID:
C1318486
Disease or Syndrome
14.

Thrombocythemia 3

Thrombocythemia-3 is an autosomal dominant hematologic disorder characterized by increased platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic episodes, such as cerebrovascular events or myocardial infarction (summary by Mead et al., 2012). For a discussion of genetic heterogeneity of thrombocythemia, see THCYT1 (187950). [from OMIM]

MedGen UID:
482755
Concept ID:
C3281125
Disease or Syndrome
15.

THROMBOCYTHEMIA 1

MedGen UID:
479301
Concept ID:
C3277671
Disease or Syndrome
16.

Increased megakaryocytes (bone marrow)

MedGen UID:
65978
Concept ID:
C0238800
Finding

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