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Items: 10

1.

Asthma-related traits, susceptibility to, 1

Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see 600807. [from OMIM]

MedGen UID:
339547
Concept ID:
C1846534
Disease or Syndrome
2.

Acute febrile mucocutaneous lymph node syndrome

Kawasaki disease is an acute, self-limited vasculitis of infants and children characterized by prolonged fever unresponsive to antibiotics, polymorphous skin rash, erythema of the oral mucosa, lips, and tongue, erythema of the palms and soles, bilateral conjunctival injection, and cervical lymphadenopathy (Kawasaki, 1967). Coronary artery aneurysms develop in 15 to 25% of those left untreated (Kato et al., 1975, 1996), making Kawasaki disease the leading cause of acquired heart disease among children in developed countries. Treatment with intravenous immunoglobulin (IVIg) abrogates the inflammation in approximately 80% of affected individuals and reduces the aneurysm rate to less than 5%. Cardiac sequelae of the aneurysms include ischemic heart disease, myocardial infarction, and sudden death. Epidemiologic features such as seasonality and clustering of cases suggested an infectious trigger, although no pathogen had been isolated. Several lines of evidence suggested the importance of genetic factors in disease susceptibility and outcome. First, the incidence of Kawasaki disease is 10 to 20 times higher in Japan than in Western countries (Cook et al., 1989). Second, the risk of Kawasaki disease in sibs of affected children is 10 times higher than in the general population, and the incidence of Kawasaki disease in children born to parents with a history of Kawasaki disease is twice as high as that in the general population (Fujita et al., 1989; Uehara et al., 2003). Hata and Onouchi (2009) reviewed current knowledge on Kawasaki disease, including epidemiology, genomewide linkage analysis, and molecular genetics. [from OMIM]

MedGen UID:
10118
Concept ID:
C0026691
Disease or Syndrome
3.

Vasculitis

Inflammation of blood vessel. [from HPO]

MedGen UID:
12054
Concept ID:
C0042384
Disease or Syndrome
4.

Not genetically inherited

clinical entity without genetic inheritance. [from ORDO]

MedGen UID:
988794
Concept ID:
CN307044
Finding
5.

Early-onset anterior polar cataract

A polar cataract that affects the anterior pole of the lens. [from HPO]

MedGen UID:
340806
Concept ID:
C1855179
Congenital Abnormality; Finding
6.

Heart disease

A non-neoplastic or neoplastic disorder that affects the heart and/or the pericardium. Representative examples include endocarditis, pericarditis, atrial myxoma, cardiac myeloid sarcoma, and pericardial malignant mesothelioma. [from NCI]

MedGen UID:
5458
Concept ID:
C0018799
Disease or Syndrome
7.

Vascular skin abnormality

A disorder of the vasculature of the skin. [from NCI]

MedGen UID:
102473
Concept ID:
C0162819
Disease or Syndrome
8.

Lymphoid system disorder

A disease or disorder that involves the lymphoid system. [from MONDO]

MedGen UID:
9829
Concept ID:
C0024228
Disease or Syndrome
9.

Inflammation

A finding of a localized protective response resulting from injury or destruction of tissues. Inflammation serves to destroy, dilute, or wall off both the injurious agent and the injured tissue. In the acute phase, inflammation is characterized by the signs of pain, heat, redness, swelling, and loss of function. Histologically, inflammation involves a complex series of events, including dilatation of arterioles, capillaries, and venules, with increased permeability and blood flow; exudation of fluids, including plasma proteins; and leukocyte migration into the site of inflammation. [from NCI]

MedGen UID:
7072
Concept ID:
C0021368
Pathologic Function
10.

Primary pediatric heart tumor

A benign or malignant neoplasm arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. Primary cardiac neoplasms are rare in children. The vast majority of primary cardiac neoplasms in children are benign, whilst approximately 10% are malignant. In contrast, the majority of secondary neoplasms are malignant. [from SNOMEDCT_US]

MedGen UID:
895113
Concept ID:
C4274356
Neoplastic Process
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