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Results: 14

1.

Carney complex, type 1

Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and manifest as intracardiac obstruction of blood flow, embolic phenomena, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large-cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in almost all adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years. [from GeneReviews]

MedGen UID:
388559
Concept ID:
C2607929
Disease or Syndrome
2.

Acyl-CoA thioester hydrolase, long-chain, 1

MedGen UID:
351308
Concept ID:
C1865144
3.

Caronte

MedGen UID:
349004
Concept ID:
C1858724
4.

MedGen UID:
109303
Concept ID:
C0596988
5.

MedGen UID:
108287
Concept ID:
C0577559
6.

Sugar

A white crystalline carbohydrate, typically sucrose, used as a sweetener and preservative. [from NCI]

MedGen UID:
69157
Concept ID:
C0242209
Pharmacologic Substance
7.

Disorder of bone

Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D and exercise. . There are many kinds of bone problems:: - Low bone density and osteoporosis, which make your bones weak and more likely to break . - Osteogenesis imperfecta makes your bones brittle . - Paget's disease of bone makes them weak . - Bone disease can make bones easy to break . - Bones can also develop cancer and infections. - Other bone diseases are caused by poor nutrition, genetic factors or problems with the rate of bone growth or rebuilding. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
14182
Concept ID:
C0005940
Disease or Syndrome
8.

Parathyroid Hormone

Encoded by human PTH Gene (Parathyroid Hormone Family), secreted (parathyroid cells) 115-aa 13-kDa (precursor) Parathyroid Hormone elevates blood Ca2+ levels by dissolving the salts in bone and preventing renal excretion. PTH defects cause familial isolated hypoparathyroidism. (NCI) Check for "http://www.cancer.gov/Search/ClinicalTrialsLink.aspx?id=489119&idtype=1" active clinical trials or "http://www.cancer.gov/Search/ClinicalTrialsLink.aspx?id=489119&idtype=1&closed=1" closed clinical trials using this agent. ("http://nciterms.nci.nih.gov:80/NCIBrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C41027" NCI Thesaurus) [from PDQ]

MedGen UID:
10585
Concept ID:
C0030520
Pharmacologic Substance
9.

Hormones, Hormone Substitutes, and Hormone Antagonists

A collective grouping for both naturally occurring and synthetic hormones, substitutes, and antagonists. [from MeSH]

MedGen UID:
6887
Concept ID:
C0019934
Pharmacologic Substance
10.

Disorder of musculoskeletal system

condition in which there is a deviation from or interruption of the normal structure or function of any muscles, bones, or cartilages of the body. [from CRISP]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
11.

Inositol

A nutrient in the vitamin B complex that the body needs in small amounts to function and stay healthy. Myoinositol helps cells make membranes and respond to messages from their environment. It has the same chemical formula as glucose (the chief source of energy for living organisms) but has a different arrangement of atoms. It is found in beans, peas, brown rice, wheat bran and nuts. It is water-soluble (can dissolve in water) and must be taken in every day. Myoinositol is being studied in the prevention of cancer. [from NCI]

MedGen UID:
5819
Concept ID:
C0021547
Pharmacologic Substance
12.

Alcohol

A class of compounds where a hydroxyl (OH) group is attached to single bonded hydrocarbons. Alcohols are classified according to the position of the carbon atom with the attached hydroxyl group (i.e. primary alcohols are alcohols with the OH group attached to the primary carbon atom, C1). Uses include solvents, astringents, and anti-infective activity. [from NCI]

MedGen UID:
1400
Concept ID:
C0001975
Pharmacologic Substance
13.

Calcium

You have more calcium in your body than any other mineral. Calcium has many important jobs. The body stores more than 99 percent of its calcium in the bones and teeth to help make and keep them strong. The rest is throughout the body in blood, muscle and the fluid between cells. Your body needs calcium to help muscles and blood vessels contract and expand, to secrete hormones and enzymes and to send messages through the nervous system. . It is important to get plenty of calcium in the foods you eat. Foods rich in calcium include dairy products such as milk, cheese and yogurt, and leafy, green vegetables. The exact amount of calcium you need depends on your age and other factors. Growing children and teenagers need more calcium than young adults. Older women need plenty of calcium to prevent osteoporosis. People who do not eat enough high-calcium foods should take a calcium supplement. NIH: National Institutes of Health Office of Dietary Supplements.  [from MedlinePlus]

MedGen UID:
710
Concept ID:
C0006675
Pharmacologic Substance
14.

Blood clotting factor

Endogenous substances, usually proteins, that are involved in the blood coagulation process. [from MeSH]

MedGen UID:
605
Concept ID:
C0005789
Pharmacologic Substance

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