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Items: 1 to 20 of 33

1.

Glucose

A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. [from MeSH]

MedGen UID:
42238
Concept ID:
C0017725
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
2.

Ganciclovir

A synthetic guanine derivative with antiviral activity. As the active metabolite of ganciclovir, ganciclovir-5-triphosphate (ganciclovir-TP) appears to inhibit viral DNA synthesis by competitive inhibition of viral DNA polymerases and incorporation into viral DNA, resulting in eventual termination of viral DNA elongation. [from NCI]

MedGen UID:
42146
Concept ID:
C0017066
Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
3.

Regular insulin

A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1). [from MeSH]

MedGen UID:
5827
Concept ID:
C0021641
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
4.

Hyperglycemia

Abnormally high BLOOD GLUCOSE level. [from MeSH]

MedGen UID:
5689
Concept ID:
C0020456
Disease or Syndrome; Finding
5.

Autoimmune state

Autoimmune Status; the state of a person's health in regard to autoimmune disease or antibody presence. [from NCI]

MedGen UID:
2136
Concept ID:
C0004368
Pathologic Function
6.

Transplantation

MedGen UID:
881115
Concept ID:
CN236682
Disease or Syndrome
7.

Type 1 diabetes

MedGen UID:
851950
Concept ID:
CN234392
Finding
8.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
9.

Autoimmunity

The occurrence of an immune reaction against the organism's own cells or tissues. [from HPO]

MedGen UID:
505423
Concept ID:
CN002679
Finding
10.

Laurin-Sandrow syndrome

A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes. [from HPO]

MedGen UID:
340697
Concept ID:
C1851100
Disease or Syndrome
11.

Central core disease

Central core disease (CCD) is characterized by muscle weakness ranging from mild to severe. Most affected individuals have mild disease with symmetric proximal muscle weakness and variable involvement of facial and neck muscles. The extraocular muscles are often spared. Motor development is usually delayed, but in general, most affected individuals acquire independent ambulation. Life span is usually normal. Severe disease is early in onset with profound hypotonia often accompanied by poor fetal movement, spinal deformities, hip dislocation, joint contractures, poor suck, and respiratory insufficiency requiring assisted ventilation. The outcome ranges from death in infancy to survival beyond age five years. The weakness in CCD is not typically progressive. [from GTR]

MedGen UID:
199773
Concept ID:
C0751951
Disease or Syndrome
12.

Fish-eye disease

Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As fish-eye disease progresses, the corneal cloudiness worsens and can lead to severely impaired vision. [from GTR]

MedGen UID:
83354
Concept ID:
C0342895
Disease or Syndrome
13.

CHARGE association

CHARGE is a mnemonic for coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies. CHARGE syndrome is characterized by the following: Unilateral or bilateral coloboma of the iris, retina-choroid, and/or disc with or without microphthalmos (80%-90% of individuals). Unilateral or bilateral choanal atresia or stenosis (50%-60%). Cranial nerve dysfunction resulting in hyposmia or anosmia, unilateral or bilateral facial palsy (40%), impaired hearing, and/or swallowing problems (70%-90%). Abnormal outer ears, ossicular malformations, Mondini defect of the cochlea and absent or hypoplastic semicircular canals (>90%). Cryptorchidism in males and hypogonadotropic hypogonadism in both males and females. Developmental delay. Cardiovascular malformations (75%-85%). Growth deficiency (70%-80%). Orofacial clefts (15%-20%). Tracheoesophageal fistula (15%-20%). Neonates with CHARGE syndrome often have multiple life-threatening medical conditions. Feeding difficulties are a major cause of morbidity in all age groups. [from GTR]

MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
14.

Progressive

Advancing in extent or severity. [from NCI]

MedGen UID:
64400
Concept ID:
C0205329
Functional Concept
15.

Fat

The glyceryl esters of a fatty acid, or of a mixture of fatty acids. They are generally odorless, colorless, and tasteless if pure, but they may be flavored according to origin. Fats are insoluble in water, soluble in most organic solvents. They occur in animal and vegetable tissue and are generally obtained by boiling or by extraction under pressure. They are important in the diet (DIETARY FATS) as a source of energy. (Grant & Hackh's Chemical Dictionary, 5th ed) [from MeSH]

MedGen UID:
5132
Concept ID:
C0015677
Organic Chemical; Pharmacologic Substance
16.

Cleidocranial dysostosis

Cleidocranial dysplasia (referred to as CCD in this review) is a skeletal dysplasia characterized by delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and multiple dental abnormalities. Manifestations may vary among individuals in the same family. The most prominent clinical findings are abnormally large, wide-open fontanels at birth that may remain open throughout life; mid-face retrusion; abnormal dentition, including delayed eruption of secondary dentition, failure to shed the primary teeth, supernumerary teeth with dental crowding, and malocclusion; clavicular hypoplasia resulting in narrow, sloping shoulders that can be apposed at the midline; and hand abnormalities such as brachydactyly, tapering fingers, and short, broad thumbs. Individuals with CCD are shorter than their unaffected sibs and are more likely to have other skeletal/orthopedic problems such as pes planus, genu valgum, and scoliosis. Other medical problems include recurrent sinus infections and other upper-airway complications, recurrent ear infections, high incidence of cesarean section, and mild degree of motor delay in children under age five years. [from GTR]

MedGen UID:
3486
Concept ID:
C0008928
Disease or Syndrome
17.

Autoimmune disease

A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). [from NCI]

MedGen UID:
2135
Concept ID:
C0004364
Disease or Syndrome
18.

Insulins

Peptide hormones that cause an increase in the absorption of GLUCOSE by cells within organs such as LIVER, MUSCLE and ADIPOSE TISSUE. During normal metabolism insulins are produced by the PANCREATIC BETA CELLS in response to increased GLUCOSE. Natural and chemically-modified forms of insulin are also used in the treatment of GLUCOSE METABOLISM DISORDERS such as DIABETES MELLITUS. [from MeSH]

MedGen UID:
760846
Concept ID:
C3537244
Pharmacologic Substance
19.

Disorder of glucose metabolism

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

MedGen UID:
226229
Concept ID:
C1257958
Disease or Syndrome
20.

Diabetes, Autoimmune

MedGen UID:
104710
Concept ID:
C0205734
Disease or Syndrome
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