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Items: 1 to 20 of 28

1.

Polyneuropathy, Familial

MedGen UID:
155860
Concept ID:
C0751448
Disease or Syndrome
2.

Familial dysautonomia

Familial dysautonomia (FD) affects the development and survival of sensory, sympathetic, and parasympathetic neurons. It is a debilitating disease present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, vomiting crises, recurrent pneumonia, altered sensitivity to pain and temperature perception, and cardiovascular instability. About 40% of individuals have autonomic crises. Hypotonia contributes to delay in acquisition of motor milestones. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Life expectancy is decreased. [from GTR]

MedGen UID:
41678
Concept ID:
C0013364
Congenital Abnormality; Disease or Syndrome
3.

Impairment

MedGen UID:
151925
Concept ID:
C0684336
Pathologic Function
4.

Dysautonomia

An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis. [from NCI]

MedGen UID:
8511
Concept ID:
C0013363
Disease or Syndrome
5.

Acetylation

Acetylation involves the covalent linkage of an acetyl group into an organic molecule. [from NCI]

MedGen UID:
7840
Concept ID:
C0001038
Molecular Function
6.

Histone Acetylation

Histone Acetylation involves covalent linkage of acetyl groups to highly basic histone proteins associated with DNA, particularly in active chromatin, and may be involved in regulation of gene expression. [from NCI]

MedGen UID:
257867
Concept ID:
C1156200
Molecular Function
7.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
8.

Autonomic dysfunction

Dysfunction of the autonomic nervous system. [from HPO]

MedGen UID:
218837
Concept ID:
C1145628
Disease or Syndrome
9.

Inborn genetic diseases

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
10.

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
11.

Acquired polyneuropathy

MedGen UID:
155861
Concept ID:
C0751449
Disease or Syndrome
12.

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
13.

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
14.

Motor polyneuropathy

MedGen UID:
82885
Concept ID:
C0271683
Disease or Syndrome
15.

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
16.

Polyneuropathy

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

MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
17.

Peripheral neuropathy

A disorder affecting 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:
18386
Concept ID:
C0031117
Disease or Syndrome
18.

Hereditary sensory and autonomic neuropathy

A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4) [from MeSH]

MedGen UID:
14355
Concept ID:
C0027889
Disease or Syndrome
19.

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
Congenital Abnormality; Disease or Syndrome
20.

Neuromuscular Diseases

A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA. [from MeSH]

MedGen UID:
10323
Concept ID:
C0027868
Disease or Syndrome
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