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Results: 1 to 20 of 22

1.

Mitochondrial inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). [from HPO]

MedGen UID:
504838
Concept ID:
CN001305
Finding
2.

Neurodegenerative Disorders

A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. [from NCI]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
3.

Malignant neoplastic disease

Cancer begins in your cells, which are the building blocks of your body. Normally, your body forms new cells as you need them, replacing old cells that die. Sometimes this process goes wrong. New cells grow even when you don't need them, and old cells don't die when they should. These extra cells can form a mass called a tumor. Tumors can be benign or malignant. Benign tumors aren't cancer while malignant ones are. Cells from malignant tumors can invade nearby tissues. They can also break away and spread to other parts of the body. . Cancer is not just one disease but many diseases. There are more than 100 different types of cancer. Most cancers are named for where they start. For example, lung cancer starts in the lung, and breast cancer starts in the breast. The spread of cancer from one part of the body to another is called metastasis. Symptoms and treatment depend on the cancer type and how advanced it is. Most treatment plans may include surgery, radiation and/or chemotherapy. Some may involve hormone therapy, biologic therapy, or stem cell transplantation. . NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
14297
Concept ID:
C0006826
Neoplastic Process
4.

Energy

MedGen UID:
603300
Concept ID:
C0424589
Finding
5.

Pathogenesis

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

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
6.

Metabolic Networks and Pathways

Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites. [from MeSH]

MedGen UID:
328456
Concept ID:
C1721099
Molecular Function
7.

Biochemical Processes

Chemical reactions or functions, enzymatic activities, and metabolic pathways of living things. [from MeSH]

MedGen UID:
267723
Concept ID:
C1511130
Molecular Function
8.

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
9.

Heredodegenerative Disorders, Nervous System

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. [from MeSH]

MedGen UID:
155945
Concept ID:
C0751870
Disease or Syndrome
10.

Mitochondrial diseases

Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA (mtDNA). While some mitochondrial disorders only affect a single organ (e.g., the eye in Leber hereditary optic neuropathy [LHON]), many involve multiple organ systems and often present with prominent neurologic and myopathic features. Mitochondrial disorders may present at any age. Many individuals with a mutation of mtDNA display a cluster of clinical features that fall into a discrete clinical syndrome, such as the Kearns-Sayre syndrome (KSS), chronic progressive external ophthalmoplegia (CPEO), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), or Leigh syndrome (LS). However, considerable clinical variability exists and many individuals do not fit neatly into one particular category, which is well-illustrated by the overlapping spectrum of disease phenotypes (including mitochondrial recessive ataxia syndrome (MIRAS) resulting from mutation of the nuclear gene POLG, which has emerged as a major cause of mitochondrial disease. Common clinical features of mitochondrial disease – whether involving a mitochondrial or nuclear gene – include ptosis, external ophthalmoplegia, proximal myopathy and exercise intolerance, cardiomyopathy, sensorineural deafness, optic atrophy, pigmentary retinopathy, and diabetes mellitus. Common central nervous system findings are fluctuating encephalopathy, seizures, dementia, migraine, stroke-like episodes, ataxia, and spasticity. A high incidence of mid- and late pregnancy loss is a common occurrence that often goes unrecognized. [from GeneReviews]

MedGen UID:
155901
Concept ID:
C0751651
Disease or Syndrome
11.

Senility

MedGen UID:
115903
Concept ID:
C0231337
Finding
12.

Oxidative phosphorylation

Electron transfer through the cytochrome system liberating free energy which is transformed into high-energy phosphate bonds. [from MeSH]

MedGen UID:
45265
Concept ID:
C0030013
Molecular Function
13.

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
14.

Metabolic Diseases

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
15.

Oxidation-reduction

A chemical reaction in which an electron is transferred from one molecule to another. The electron-donating molecule is the reducing agent or reductant; the electron-accepting molecule is the oxidizing agent or oxidant. Reducing and oxidizing agents function as conjugate reductant-oxidant pairs or redox pairs (Lehninger, Principles of Biochemistry, 1982, p471). [from MeSH]

MedGen UID:
18243
Concept ID:
C0030012
Molecular Function
16.

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
17.

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
18.

Phosphorylation

A process in which a phosphate group is added to a molecule, such as a sugar or a protein. [from NCI]

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function
19.

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
20.

Electron transfer

The process by which ELECTRONS are transported from a reduced substrate to molecular OXYGEN. (From Bennington, Saunders Dictionary and Encyclopedia of Laboratory Medicine and Technology, 1984, p270) [from MeSH]

MedGen UID:
4000
Concept ID:
C0013846
Molecular Function

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