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Results: 1 to 20 of 29

1.

Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia

MedGen UID:
811485
Concept ID:
C3714844
Disease or Syndrome
2.

Pulmonary arterial hypertension

MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
3.

Phenylketonuria

A genetic disorder in which the body lacks the enzyme necessary to metabolize protein [from CHV]

MedGen UID:
199655
Concept ID:
C0751434
Disease or Syndrome
4.

Primary pulmonary hypertension

Pulmonary arterial hypertension (PAH) is characterized by widespread obstruction and obliteration of the smallest pulmonary arteries. When a sufficient number of vessels are occluded, the resistance to blood flow through the lungs increases, and the right ventricle attempts to compensate by generating higher pressure to maintain pulmonary blood flow. When the right ventricle can no longer compensate for the increased resistance, progressive heart failure ensues. Initial symptoms include dyspnea (60%), fatigue (19%), syncope (8%), chest pain (7%), palpitation (5%), and edema (3%). All ages are affected, but the mean age at diagnosis is 36 years. Mean survival after diagnosis is 2.8 years; current therapy does improve clinical function but has modest effect on survival. The term heritable PAH (HPAH) includes familial PAH (PAH that occurs in two or more family members) and simplex PAH (i.e., a single occurrence in a family) when a causative mutation has been identified. Most heritable PAH (75%) is caused by a mutation in BMPR2; mutations in other genes (i.e., ACVRL1, BMPR1B, CAV1, ENG, SMAD9) are considerably less common (~1%). HPAH has identical symptoms, signs, and histology as PAH of unknown cause. The time from onset of symptoms to diagnosis may be shorter in individuals with familial PAH, possibly because of familial awareness of the disease. Three retrospective studies suggest that persons with PAH who have a BMPR2 mutation exhibit more severe disease. [from GeneReviews]

MedGen UID:
57749
Concept ID:
C0152171
Disease or Syndrome
5.

Phenylketonuria

Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders including phenylketonuria (PKU), non-PKU hyperphenylalaninemia (non-PKU HPA), and variant PKU. Classic PKU is caused by a complete or near-complete deficiency of phenylalanine hydroxylase activity; without dietary restriction of phenylalanine, most children with PKU develop profound and irreversible intellectual disability. Non-PKU HPA is associated with a much lower risk of impaired cognitive development in the absence of treatment. [from GeneReviews]

MedGen UID:
19244
Concept ID:
C0031485
Disease or Syndrome
6.

Phenylalanine

An essential aromatic amino acid that is a precursor of MELANIN; DOPAMINE; noradrenalin (NOREPINEPHRINE), and THYROXINE. [from MeSH]

MedGen UID:
10708
Concept ID:
C0031453
Pharmacologic Substance
7.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding
8.

Novel Mutation

A newly discovered, distinct gene alteration; NOT the same as new or de novo mutation. [from NCI]

MedGen UID:
457664
Concept ID:
C2985438
Cell or Molecular Dysfunction
9.

Thymus Epithelial Neoplasm

MedGen UID:
220416
Concept ID:
C1266101
Neoplastic Process
10.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
11.

Hyperphenylalaninemia, Non-Phenylketonuric

MedGen UID:
199656
Concept ID:
C0751436
Disease or Syndrome
12.

Genetic Diseases, Inborn

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
13.

Brain Diseases, Metabolic, Inborn

Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. [from MeSH]

MedGen UID:
156005
Concept ID:
C0752109
Disease or Syndrome
14.

Hyperphenylalaninemia, non-pku

any of several autosomal recessive defects in the hydroxylation of phenylalanine resulting in accumulation and excretion of dietary phenylalanine; most commonly the defect is in the enzyme phenylalanine 4-monooxygenase; the most severe manifestation of this is classic PHENYLKETONURIA, but two benign forms also occur; rarely the defect is one of tetrahydrobiopterin metabolism. [from CRISP]

MedGen UID:
155558
Concept ID:
C0751435
Disease or Syndrome
15.

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
16.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. . You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
17.

Disorder of nervous system

The brain, spinal cord, and nerves make up the nervous system. Together they control all the workings of the body. When something goes wrong with a part of your nervous system, you can have trouble moving, speaking, swallowing, breathing, or learning. You can also have problems with your memory, senses, or mood. There are more than 600 neurologic diseases. Major types include: - Diseases caused by faulty genes, such as Huntington's disease and muscular dystrophy. - Problems with the way the nervous system develops, such as spina bifida. - Degenerative diseases, where nerve cells are damaged or die, such as Parkinson's disease and Alzheimer's disease. - Diseases of the blood vessels that supply the brain, such as stroke. - Injuries to the spinal cord and brain. - Seizure disorders, such as epilepsy . - Cancer, such as brain tumors. - infections, such as meningitis.  [from MedlinePlus]

MedGen UID:
14336
Concept ID:
C0027765
Disease or Syndrome
18.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Disease or Syndrome
19.

Disorder of brain

The brain is the control center of the body. It controls thoughts, memory, speech, and movement. It regulates the function of many organs. When the brain is healthy, it works quickly and automatically. However, when problems occur, the results can be devastating. . Inflammation in the brain can lead to problems such as vision loss, weakness and paralysis. Loss of brain cells, which happens if you suffer a stroke, can affect your ability to think clearly. Brain tumors can also press on nerves and affect brain function. Some brain diseases are genetic. And we do not know what causes some brain diseases, such as Alzheimer's disease. The symptoms of brain diseases vary widely depending on the specific problem. In some cases, damage is permanent. In other cases, treatments such as surgery, medicines, or physical therapy can correct the source of the problem or improve symptoms. .  [from MedlinePlus]

MedGen UID:
14214
Concept ID:
C0006111
Disease or Syndrome
20.

Female

A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both. (NCI) [from NCI_CDISC]

MedGen UID:
8807
Concept ID:
C0015780
Finding

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