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1.

Von Hippel-Lindau syndrome

Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility. [from GeneReviews]

MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
2.

Von Hippel-Lindau

MedGen UID:
490007
Concept ID:
CN169367
Disease or Syndrome
3.

Angioma, Cavernous

A tumor-like mass with large vascular space that is filled with blood or lymph. [from MeSH]

MedGen UID:
368368
Concept ID:
C1959589
Neoplastic Process
4.

Hypoxia

A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma). [from NCI]

MedGen UID:
66846
Concept ID:
C0242184
Pathologic Function
5.

Erythropoietin

a hormone produced in the adult kidney [from CHV]

MedGen UID:
41863
Concept ID:
C0014822
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
6.

Polycythaemia

Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. [from HPO]

MedGen UID:
18552
Concept ID:
C0032461
Disease or Syndrome
7.

Cavernous hemangioma

The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma. [from HPO]

MedGen UID:
9184
Concept ID:
C0018920
Neoplastic Process
8.

Polycythemia

Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. [from HPO]

MedGen UID:
504995
Concept ID:
CN001719
Finding
9.

Pathogenesis

specific processes that generate the ability of an organism to cause disease [from CHV]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
10.

Tumorigenesis

A pathologic process that involves the transformation of normal cells to a neoplastic state and resulting in polyclonal or monoclonal neoplastic cell proliferation. [from NCI]

MedGen UID:
3302
Concept ID:
C0007621
Neoplastic Process
11.

Angioma

benign tumors that are made up of small blood vessels. [from CHV]

MedGen UID:
409516
Concept ID:
C1959588
Neoplastic Process
12.

Erythrocytosis

Peripheral blood red cell count above the normal range [from SNOMEDCT_US]

MedGen UID:
282903
Concept ID:
C1527405
Finding
13.

Chorangioma

Hamartoma-like growth in the placenta consisting of blood vessels. [from HPO]

MedGen UID:
195606
Concept ID:
C0677608
Neoplastic Process
14.

Vascular hemostatic disease

Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of BLOOD VESSELS, blood fluidity, and BLOOD COAGULATION. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the VASCULAR ENDOTHELIUM, the plasma proteins (including BLOOD COAGULATION FACTORS), and PLATELETS. [from MeSH]

MedGen UID:
154721
Concept ID:
C0600502
Disease or Syndrome
15.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
16.

Mutagenesis Process

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
17.

Neurocutaneous syndrome

A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. [from MeSH]

MedGen UID:
82706
Concept ID:
C0265316
Disease or Syndrome
18.

Intramuscular Hemangioma

A hemangioma arising from skeletal muscle. [from NCI]

MedGen UID:
61450
Concept ID:
C0205789
Neoplastic Process
19.

Epithelioid Hemangioma

A hemangioma characterized by the presence of epithelioid endothelial cells. [from NCI]

MedGen UID:
61449
Concept ID:
C0205788
Neoplastic Process
20.

Vascular disorder

The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block blood flow to the heart or brain. Weakened blood vessels can burst, causing bleeding inside the body. . You are more likely to have vascular disease as you get older. Other factors that make vascular disease more likely include. - Family history of vascular or heart diseases. - Pregnancy. - Illness or injury . - Long periods of sitting or standing still. - Any condition that affects the heart and blood vessels, such as diabetes or high cholesterol . - Smoking . - Obesity . Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery.  [from MedlinePlus]

MedGen UID:
22621
Concept ID:
C0042373
Disease or Syndrome
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