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Items: 1 to 20 of 32

1.

Optic neuropathy

Damage to the optic nerve. [from NCI]

MedGen UID:
854546
Concept ID:
C3887709
Disease or Syndrome
2.

Hereditary optic neuropathy

MedGen UID:
833352
Concept ID:
CN229291
Finding
3.

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:
165802
Concept ID:
C0887941
Genetic Function
4.

Peripheral neuropathy

A disorder affecting the cranial nerves or the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. [from NCI]

MedGen UID:
141046
Concept ID:
C0442874
Disease or Syndrome
5.

NADH

MedGen UID:
44576
Concept ID:
C0027289
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
6.

Neurodegeneration

Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways. [from MeSH]

MedGen UID:
17999
Concept ID:
C0027746
Cell or Molecular Dysfunction
7.

Arginine

An essential amino acid in juvenile humans, Arginine is a complex amino acid, often found at active site in proteins and enzymes due to its amine-containing side chain. Arginine may prevent or treat heart and circulatory diseases, combat fatigue, and stimulate the immune system. It also boosts production of nitric oxide, relaxing blood vessels, and treating angina and other cardiovascular problems. Arginine is also an important intermediate in the urea cycle and in detoxification of nitrogenous wastes. (NCI04) [from NCI]

MedGen UID:
13907
Concept ID:
C0003765
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
8.

Multiple congenital anomalies

Congenital abnormalities that affect more than one organ or body structure. [from MeSH]

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
9.

Histidine

A semi-essential amino acid (children should obtain it from food) needed in humans for growth and tissue repair, Histidine is important for maintenance of myelin sheaths that protect nerve cells and is metabolized to the neurotransmitter histamine. Histamines play many roles in immunity, gastric secretion, and sexual functions. Histidine is also required for blood cell manufacture and protects tissues against damage caused by radiation and heavy metals. (NCI04) [from NCI]

MedGen UID:
5564
Concept ID:
C0019602
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
10.

Clinical finding

Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from MeSH]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
11.

Optic atrophy

A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances. [from NCI]

MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
12.

Degenerative abnormality

Disturbance of cell integrity and deterioration of normal tissue, cells or organs. [from NCI_CDISC]

MedGen UID:
3705
Concept ID:
C0011164
Pathologic Function
13.

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
14.

Acquired polyneuropathy

MedGen UID:
155861
Concept ID:
C0751449
Disease or Syndrome
15.

Polyneuropathy, Familial

MedGen UID:
155860
Concept ID:
C0751448
Disease or Syndrome
16.

Abnormality of the nervous system

An abnormality of the nervous system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
17.

Neurodegenerative disease

Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. [from MeSH]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
18.

Motor polyneuropathy

MedGen UID:
82885
Concept ID:
C0271683
Disease or Syndrome
19.

Cranioschisis

A congenital abnormality characterized by the failure of the bones of the skull to close. [from NCI]

MedGen UID:
78563
Concept ID:
C0265541
Congenital Abnormality
20.

Polyneuropathy

A disease or disorder affecting more than one nerve. [from NCI]

MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
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