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Items: 18

1.

Parathyroid carcinoma

The spectrum of CDC73-related disorders includes the following phenotypes: Hyperparathyroidism-jaw tumor syndrome (HPT-JT). Parathyroid carcinoma. Familial isolated hyperparathyroidism (FIHP). Primary hyperparathyroidism, the main finding of HPT-JT syndrome, occurs in more than 70% of affected individuals; onset is typically in late adolescence or early adulthood. HPT-JT-associated primary hyperparathyroidism is usually caused by a single parathyroid adenoma. In approximately 10%-15% of cases, primary hyperparathyroidism is caused by parathyroid carcinoma. Ossifying fibromas of the mandible or maxilla, also known as cementifying fibromas and cemento-ossifying fibromas, occur in 30%-40% of individuals with HPT-JT syndrome. Although benign, these tumors can be locally aggressive and may continue to enlarge if not treated. Approximately 20% of individuals with HPT-JT syndrome have kidney lesions, most commonly cysts; renal hamartomas and (more rarely) Wilms tumor have also been reported. Benign and malignant uterine tumors appear to be common in women with HPT-JT syndrome. [from GeneReviews]

MedGen UID:
146361
Concept ID:
C0687150
Neoplastic Process
2.

Parathyroid adenoma

A benign tumor of the parathyroid gland that can cause hyperparathyroidism. [from HPO]

MedGen UID:
75502
Concept ID:
C0262587
Neoplastic Process
3.

Primary hyperparathyroidism

A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. [from HPO]

MedGen UID:
66354
Concept ID:
C0221002
Disease or Syndrome
4.

Neoplasm

A general term for autonomous tissue growth in which the malignancy status has not been established and for which the transformed cell type has not been specifically identified. [from NCI]

MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
5.

Hyperparathyroidism

A condition of abnormally elevated output of PARATHYROID HORMONE (or PTH) triggering responses that increase blood CALCIUM. It is characterized by HYPERCALCEMIA and BONE RESORPTION, eventually leading to bone diseases. PRIMARY HYPERPARATHYROIDISM is caused by parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. SECONDARY HYPERPARATHYROIDISM is increased PTH secretion in response to HYPOCALCEMIA, usually caused by chronic KIDNEY DISEASES. [from MeSH]

MedGen UID:
6967
Concept ID:
C0020502
Disease or Syndrome
6.

Hypercalcemia

Abnormally high level of calcium in the blood. [from NCI_NICHD]

MedGen UID:
5686
Concept ID:
C0020437
Disease or Syndrome; Finding
7.

Carcinoma

A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). [from HPO]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
8.

Neoplasms

MedGen UID:
880980
Concept ID:
CN236628
Disease or Syndrome
9.

Primary hyperparathyroidism

A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. [from HPO]

MedGen UID:
506181
Concept ID:
CN007204
Finding
10.

Parathyroid carcinoma

A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism. [from HPO]

MedGen UID:
505982
Concept ID:
CN005903
Finding
11.

Parathyroid adenoma

A benign tumor of the parathyroid gland that can cause hyperparathyroidism. [from HPO]

MedGen UID:
505395
Concept ID:
CN002620
Finding
12.

Hyperparathyroidism

Excessive production of parathyroid hormone (PTH) by the parathyroid glands. [from HPO]

MedGen UID:
504623
Concept ID:
CN000789
Finding
13.

Hypertrichosis congenital generalized X-linked

A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth. [from HPO]

MedGen UID:
341002
Concept ID:
C1855900
Disease or Syndrome
14.

Parathyroid gland neoplasm

Tumors or cancer of the PARATHYROID GLANDS. [from MeSH]

MedGen UID:
10586
Concept ID:
C0030521
Neoplastic Process
15.

Disorder of parathyroid gland

Most people have four pea-sized glands, called parathyroid glands, on the thyroid gland in the neck. Though their names are similar, the thyroid and parathyroid glands are completely different. The parathyroid glands make parathyroid hormone (PTH), which helps your body keep the right balance of calcium and phosphorous. If your parathyroid glands make too much or too little hormone, it disrupts this balance. If they secrete extra PTH, you have hyperparathyroidism, and your blood calcium rises. In many cases, a benign tumor on a parathyroid gland makes it overactive. Or, the extra hormones can come from enlarged parathyroid glands. Very rarely, the cause is cancer. If you do not have enough PTH, you have hypoparathyroidism. Your blood will have too little calcium and too much phosphorous. Causes include injury to the glands, endocrine disorders, or genetic conditions. Treatment is aimed at restoring the balance of calcium and phosphorous. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
10583
Concept ID:
C0030517
Disease or Syndrome
16.

Head and Neck Neoplasms

A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx. [from HPO]

MedGen UID:
6728
Concept ID:
C0018671
Neoplastic Process
17.

Disorder of endocrine system

Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They travel through your bloodstream to tissues or organs. Hormones work slowly and affect body processes from head to toe. These include. -Growth and development. -Metabolism - digestion, elimination, breathing, blood circulation and maintaining body temperature . -Sexual function. -Reproduction. -Mood. If your hormone levels are too high or too low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels. In the United States, the most common endocrine disease is diabetes. There are many others. They are usually treated by controlling how much hormone your body makes. Hormone supplements can help if the problem is too little of a hormone.  [from MedlinePlus]

MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
18.

HYPERPARATHYROIDISM 4

MedGen UID:
910329
Concept ID:
CN240514
Disease or Syndrome
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