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Items: 1 to 20 of 36

1.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
2.

Nystagmus

Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272) [from MeSH]

MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
3.

Methylation

The covalent chemical or biochemical addition of a methyl group(s) to a compound. (NCI) [from NCI]

MedGen UID:
44400
Concept ID:
C0025723
Molecular Function
4.

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
5.

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
6.

Position

The anatomical localization of the specified phenotypic abnormality. [from HPO]

MedGen UID:
866377
Concept ID:
C4019252
Spatial Concept
7.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
8.

Androgenic preparation

A synthetic or animal-derived hormone that is chemically or functionally similar or identical to endogenous androgen with potential use in therapeutic applications. [from NCI]

MedGen UID:
8060
Concept ID:
C0002844
Hormone; Pharmacologic Substance
9.

Nutritional disorder

Any condition related to a disturbance between proper intake and utilization of nourishment. [from NCI]

MedGen UID:
811347
Concept ID:
C3714509
Disease or Syndrome
10.

Disorder of glucose metabolism

A metabolic disorder characterized by abnormal blood glucose levels. [from NCI]

MedGen UID:
226229
Concept ID:
C1257958
Disease or Syndrome
11.

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
12.

Disorder of hyperalimentation

An imbalanced NUTRITIONAL STATUS resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as OBESITY. [from MeSH]

MedGen UID:
219760
Concept ID:
C1257763
Disease or Syndrome
13.

Congenital nystagmus

Nystagmus dating from or present at birth. [from HPO]

MedGen UID:
195995
Concept ID:
C0700501
Congenital Abnormality
14.

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
15.

Opsoclonus

A rapid, multivectorial, conjugate, involuntary eye movement, without an intersaccadic interval. [from NCI]

MedGen UID:
116616
Concept ID:
C0242567
Disease or Syndrome
16.

Pseudoophthalmoplegia

MedGen UID:
82878
Concept ID:
C0271397
Sign or Symptom
17.

Cyclophoria

MedGen UID:
56268
Concept ID:
C0152219
Disease or Syndrome
18.

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
19.

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
20.

Clinical finding

Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from MeSH]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
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