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Items: 1 to 20 of 25

1.

Oxygen

An element with atomic symbol O, atomic number 8, and atomic weight 16. [from NCI]

MedGen UID:
45267
Concept ID:
C0030054
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
2.

Asthma

A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways. [from NCI]

MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
3.

Exacerbation

A worsening of a problem, condition, or disease. [from NCI]

MedGen UID:
898763
Concept ID:
C4086268
Finding
4.

Bronchomoniliasis

MedGen UID:
737485
Concept ID:
C1622369
Disease or Syndrome
5.

Cheese-makers asthma

MedGen UID:
729880
Concept ID:
C1321272
Disease or Syndrome
6.

Meat-wrappers asthma

MedGen UID:
536788
Concept ID:
C0238266
Disease or Syndrome
7.

Asthma

Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. [from HPO]

MedGen UID:
505101
Concept ID:
CN001900
Finding
8.

Acute insulin response

MedGen UID:
355729
Concept ID:
C1866503
Finding
9.

Distal arthrogryposis type 2B

Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA1 is not associated with other abnormalities, whereas other forms of DA have additional phenotypic features (Bamshad et al., 1996). The congenital contractures in DA2B (Sheldon-Hall syndrome, SHS) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120). [from GTR]

MedGen UID:
320374
Concept ID:
C1834523
Disease or Syndrome
10.

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
11.

Renpenning syndrome 1

Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome. [from GTR]

MedGen UID:
208670
Concept ID:
C0796135
Disease or Syndrome
12.

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
13.

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
14.

Ceplene

Tradename for histamine dihydrochloride. [from MeSH]

MedGen UID:
258525
Concept ID:
C1449658
Organic Chemical; Pharmacologic Substance
15.

Hydrochloride, Histamine

MedGen UID:
257897
Concept ID:
C1166177
Organic Chemical; Pharmacologic Substance
16.

Peremin

MedGen UID:
129126
Concept ID:
C0282195
Organic Chemical; Pharmacologic Substance
17.

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
18.

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
19.

Diseases, Respiratory Tract

Diseases involving the RESPIRATORY SYSTEM. [from MeSH]

MedGen UID:
19750
Concept ID:
C0035242
Disease or Syndrome
20.

Respiratory Hypersensitivity

A form of hypersensitivity affecting the respiratory tract. It includes ASTHMA and RHINITIS, ALLERGIC, SEASONAL. [from MeSH]

MedGen UID:
11196
Concept ID:
C0035228
Pathologic Function
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