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Items: 10

1.

Idiopathic generalized epilepsy

Idiopathic generalized epilepsy is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA; see 600131), juvenile absence epilepsy (JAE, EJA; see 607631), juvenile myoclonic epilepsy (JME, EJM; see 254770), and epilepsy with grand mal seizures on awakening (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). These recurrent seizures occur in the absence of detectable brain lesions and/or metabolic abnormalities. Seizures are initially generalized with a bilateral, synchronous, generalized, symmetrical EEG discharge (Zara et al., 1995; Lu and Wang, 2009). See also childhood absence epilepsy (ECA1; 600131), which has also been mapped to 8q24. Of note, benign neonatal epilepsy 2 (EBN2; 121201) is caused by mutation in the KCNQ3 gene (602232) on 8q24. Genetic Heterogeneity of Idiopathic Generalized Epilepsy EIG1 has been mapped to chromosome 8q24. Other loci or genes associated with EIG include EIG2 (606972) on 14q23; EIG3 (608762) on 9q32; EIG4 (609750) on 10q25; EIG5 (611934) on 10p11; EIG6 (611942), caused by mutation in the CACNA1H gene (607904) on 16p; EIG7 (604827) on 15q14; EIG8 (612899), caused by mutation in the CASR gene (601199) on 3q13.3-q21; EIG9 (607682), caused by mutation in the CACNB4 gene (601949) on 2q22-q23; EIG10 (613060), caused by mutation in the GABRD gene (137163) on 1p36.3; EIG11 (607628), caused by variation in the CLCN2 gene (600570) on 3q36; EIG12 (614847), caused by mutation in the SLC2A1 gene (138140) on 1p34; EIG13 (611136), caused by mutation in the GABRA1 gene (137160) on 5q34; and EIG14 (616685), caused by mutation in the SLC12A5 gene (606726) on 20q12. [from GTR]

MedGen UID:
75725
Concept ID:
C0270850
Disease or Syndrome
2.

Artificial antigen

small synthetic peptides that mimic surface antigens of pathogens and are immunogenic. [from CRISP]

MedGen UID:
11692
Concept ID:
C0039115
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
3.

Allergy

A pathological immune process generally directed towards a foreign antigen, which results in tissue injury, which is usually transient. It is the realization of the allergic disposition. It is most often applied to type I hypersensitivity but other hypersensitivity types especially type IV (e.g. allergic contact dermatitis) may be involved. [from SNOMEDCT_US]

MedGen UID:
287129
Concept ID:
C1527304
Pathologic Function
4.

Mass of body structure

A benign or malignant pathologic structure in any part of the body, resulting from a neoplastic accumulation of cells, inflammatory cells, or cystic changes. [from NCI]

MedGen UID:
108287
Concept ID:
C0577559
Finding
5.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
6.

Allergy

A pathological process initiated by exposure to a defined stimulus at a dose tolerated by normal persons. It may be the manifestation of a disposition to hypersensitivity. [from SNOMEDCT_US]

MedGen UID:
9370
Concept ID:
C0020517
Pathologic Function
7.

Allergies, Milk

Allergic reaction to milk (usually cow's milk) or milk products. MILK HYPERSENSITIVITY should be differentiated from LACTOSE INTOLERANCE, an intolerance to milk as a result of congenital deficiency of lactase. [from MeSH]

MedGen UID:
86965
Concept ID:
C0079840
Disease or Syndrome
8.

IgE-mediated allergic disorder

Hypersensitivity reactions which occur within minutes of exposure to challenging antigen due to the release of histamine which follows the antigen-antibody reaction and causes smooth muscle contraction and increased vascular permeability. [from MeSH]

MedGen UID:
43785
Concept ID:
C0020523
Pathologic Function
9.

Food allergy

Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food. [from MeSH]

MedGen UID:
42064
Concept ID:
C0016470
Pathologic Function
10.

Allergic reaction to chemical

MedGen UID:
737654
Concept ID:
C1626923
Pathologic Function
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