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Items: 1 to 20 of 27

1.

Synteny

The presence of two or more genetic loci on the same chromosome. Extensions of this original definition refer to the similarity in content and organization between chromosomes, of different species for example. [from MeSH]

MedGen UID:
90316
Concept ID:
C0314656
Molecular Function
2.

Tryptophan

An essential amino acid that is necessary for normal growth in infants and for NITROGEN balance in adults. It is a precursor of INDOLE ALKALOIDS in plants. It is a precursor of SEROTONIN (hence its use as an antidepressant and sleep aid). It can be a precursor to NIACIN, albeit inefficiently, in mammals. [from MeSH]

MedGen UID:
21717
Concept ID:
C0041249
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
3.

Arginine

An essential amino acid in juvenile humans, Arginine is a complex amino acid, often found at active site in proteins and enzymes due to its amine-containing side chain. Arginine may prevent or treat heart and circulatory diseases, combat fatigue, and stimulate the immune system. It also boosts production of nitric oxide, relaxing blood vessels, and treating angina and other cardiovascular problems. Arginine is also an important intermediate in the urea cycle and in detoxification of nitrogenous wastes. (NCI04) [from NCI]

MedGen UID:
13907
Concept ID:
C0003765
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
4.

Glycine

A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter. [from MeSH]

MedGen UID:
6636
Concept ID:
C0017890
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
5.

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
6.

Disorder of pigmentation

Diseases affecting PIGMENTATION, including SKIN PIGMENTATION. [from MeSH]

MedGen UID:
107500
Concept ID:
C0549567
Disease or Syndrome
7.

Hypopigmentation of the skin

A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections. [from MeSH]

MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
8.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
9.

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
10.

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
11.

Hereditary eye diseases

Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. [from MeSH]

MedGen UID:
41933
Concept ID:
C0015398
Disease or Syndrome
12.

Genodermatosis

Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism. [from MeSH]

MedGen UID:
20779
Concept ID:
C0037277
Disease or Syndrome
13.

dermopathy

An abnormality of the skin. [from HPO]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
14.

Restriction Fragment Length Polymorphism

Variation occurring within a species in the length of DNA fragments generated by a specific endonuclease. Such variations are generated by mutations that create or abolish recognition sites for these enzymes. [from NCI]

MedGen UID:
20546
Concept ID:
C0035268
Cell or Molecular Dysfunction
15.

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
16.

Animal Diseases

Diseases that occur in VERTEBRATE animals. [from MeSH]

MedGen UID:
8091
Concept ID:
C0003047
Disease or Syndrome
17.

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
18.

Eye disease

A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. [from NCI]

MedGen UID:
5092
Concept ID:
C0015397
Disease or Syndrome
19.

Disorder of amino acid metabolism

An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. [from NCI]

MedGen UID:
1867
Concept ID:
C0002514
Disease or Syndrome
20.

Cat Diseases

Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as CHEETAHS; LIONS; tigers, cougars, panthers, leopards, and other Felidae for which the heading CARNIVORA is used. [from MeSH]

MedGen UID:
797
Concept ID:
C0007350
Disease or Syndrome
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