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Results: 1 to 20 of 45

1.

Peripheral neuropathy

Peripheral neuropathy is a general term for any disorder of the `peripheral nervous system` (FMA:9903). The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. [from HPO]

MedGen UID:
506330
Concept ID:
CN008687
Finding
2.

Sensory neuropathy

Peripheral neuropathy affecting the sensory nerves. [from HPO]

MedGen UID:
504589
Concept ID:
CN000717
Finding
3.

nervous system disorder [from CHV]

MedGen UID:
141046
Concept ID:
C0442874
4.

Sensory neuropathy

functional disturbance or pathological change in the peripheral nervous system; sometimes limited to noninflammatory lesions as opposed to those of neuritis; etiology may be known or unknown. [from CRISP]

MedGen UID:
101791
Concept ID:
C0151313
Disease or Syndrome
5.

Hereditary liability to pressure palsies

Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop. The first attack usually occurs in the second or third decade. Recovery from acute neuropathy is often complete; when recovery is not complete, the resulting disability is usually mild. Some affected individuals also have signs of a mild to moderate peripheral neuropathy. [from GeneReviews]

MedGen UID:
98291
Concept ID:
C0393814
Disease or Syndrome
6.

Hereditary motor and sensory neuropathy

A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343) [from MeSH]

MedGen UID:
45066
Concept ID:
C0027888
Disease or Syndrome
7.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) hereditary neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy. The affected individual typically has distal muscle weakness and atrophy often associated with mild to moderate sensory loss, depressed tendon reflexes, and high-arched feet. [from GeneReviews]

MedGen UID:
2980
Concept ID:
C0007959
Disease or Syndrome
8.

Demyelination

MedGen UID:
3720
Concept ID:
C0011304
Pathologic Function
9.

Growth arrest

MedGen UID:
569472
Concept ID:
C0333951
Pathologic Function
10.

Peripheral demyelination

A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. [from HPO]

MedGen UID:
506437
Concept ID:
CN116827
Finding
11.

Founder Mutation

A gene mutation observed with high frequency in a group that is or was geographically or culturally isolated, in which one or more of the ancestors was a carrier of the mutant gene. This phenomenon is often called a founder effect. [from NCI]

MedGen UID:
457661
Concept ID:
C2985435
Cell or Molecular Dysfunction
12.

Charcot-Marie-Tooth disease, type 4D

Charcot-Marie-Tooth neuropathy type 4 (CMT4) is a group of progressive motor and sensory axonal and demyelinating neuropathies that are distinguished from other forms of CMT by autosomal recessive inheritance. Affected individuals have the typical CMT phenotype of distal muscle weakness and atrophy associated with sensory loss and, frequently, pes cavus foot deformity. [from GeneReviews]

MedGen UID:
371304
Concept ID:
C1832334
Disease or Syndrome
13.

PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY

MedGen UID:
349287
Concept ID:
C1861457
Disease or Syndrome
14.

Axonal loss

MedGen UID:
316962
Concept ID:
C1832338
Finding
15.

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

MedGen UID:
195936
Concept ID:
C0699748
16.

Position

An observation denoting the physical location of a person or thing based on a reference coordinate system.  [from HL7]

MedGen UID:
149196
Concept ID:
C0733755
17.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
18.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
19.

Deranged function in an individual or an organ that is due to a disease. (MedicineNet.com) [from NCI]

MedGen UID:
124450
Concept ID:
C0277785
20.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082

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