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Items: 1 to 20 of 26

1.

Ornithine

A naturally occurring amino acid found in meat, fish, dairy and eggs. Ornithine is one of the key reactants in the urea cycle that is responsible for 80% of the nitrogen excretion in the body. Ornithine enhances liver function and helps detoxify harmful substances. [from NCI]

MedGen UID:
10474
Concept ID:
C0029277
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
2.

Ammonia

A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. Note that the aqueous form of ammonia is referred to as AMMONIUM HYDROXIDE. [from MeSH]

MedGen UID:
1877
Concept ID:
C0002607
Inorganic Chemical; Pharmacologic Substance
3.

Prolonged

Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection). [from HPO]

MedGen UID:
615082
Concept ID:
C0439590
Temporal Concept
4.

enzyme activity

Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. [ISBN:0198506732] [from GO]

MedGen UID:
66218
Concept ID:
C0243102
Molecular Function
5.

Anti-neutrophil cytoplasmic antibody-associated vasculitis

Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. [from MeSH]

MedGen UID:
403453
Concept ID:
C2717865
Disease or Syndrome
6.

Asymmetric septal hypertrophy

Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. [from HPO]

MedGen UID:
104705
Concept ID:
C0205700
Disease or Syndrome
7.

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
8.

X-linked hereditary disease

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. [from MeSH]

MedGen UID:
222910
Concept ID:
C1138434
Disease or Syndrome
9.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
10.

Brain Diseases, Metabolic, Inborn

Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. [from MeSH]

MedGen UID:
156005
Concept ID:
C0752109
Disease or Syndrome
11.

Ornithine carbamoyltransferase deficiency

Ornithine transcarbamylase (OTC) deficiency can occur as a severe neonatal-onset disease in males (but rarely in females) and as a post-neonatal-onset (partial deficiency) disease in males and females. Males with severe neonatal-onset OTC deficiency are typically normal at birth but become symptomatic from hyperammonemia on day two to three of life and are usually catastrophically ill by the time they come to medical attention. After successful treatment of neonatal hyperammonemic coma these infants can easily become hyperammonemic again despite appropriate treatment; they typically require liver transplant by age six months to improve quality of life. Males and heterozygous females with post-neonatal-onset (partial) OTC deficiency can present from infancy to later childhood, adolescence, or adulthood. No matter how mild the disease, a hyperammonemic crisis can be precipitated by stressors and become a life-threatening event at any age and in any situation in life. For all individuals with OTC deficiency, typical neuropsychological complications include developmental delay, learning disabilities, intellectual disability, attention deficit hyperactivity disorder (ADHD), and executive function deficits. [from GTR]

MedGen UID:
75692
Concept ID:
C0268542
Disease or Syndrome
12.

Disorder of the urea cycle metabolism

A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. [from NCI]

MedGen UID:
57586
Concept ID:
C0154246
Disease or Syndrome
13.

Orotic acid

MedGen UID:
45233
Concept ID:
C0029300
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
14.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
15.

Metabolic disease

A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from NCI]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
16.

Unspecified encephalopathy

A functional and/or structural disorder of the brain caused by diseases (e.g. liver disease, kidney disease), medications, chemicals, and injuries. [from NCI]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
17.

Uracil

2,4-diketopyrimidine; one of the 5 major bases (with adenine, guanine, cytosine, and thymine) which are a component of nucleic acids. [from CRISP]

MedGen UID:
22564
Concept ID:
C0041917
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
18.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
19.

Disorder of brain

A non-neoplastic or neoplastic disorder that affects the brain. [from NCI]

MedGen UID:
14214
Concept ID:
C0006111
Disease or Syndrome
20.

Inborn error of metabolism

A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. [from NCI]

MedGen UID:
6323
Concept ID:
C0025521
Congenital Abnormality; Disease or Syndrome
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