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Results: 1 to 20 of 112

1.

Charcot-Marie-Tooth disease, X-linked recessive, type 4

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:
162891
Concept ID:
C0795910
Disease or Syndrome
2.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

Complete deafness

Total inability to hear sounds in one or both ears. [from NCI]

MedGen UID:
108418
Concept ID:
C0581883
Finding
4.

Respiratory Chain

MedGen UID:
57891
Concept ID:
C0162362
Molecular Function
5.

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
6.

NADH

MedGen UID:
44576
Concept ID:
C0027289
Pharmacologic Substance
7.

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
8.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
9.

Deafness

A general term for the complete loss of the ability to hear from both ears. [from MeSH]

MedGen UID:
4155
Concept ID:
C0011053
Finding
10.

Error occurred: cannot get document summary

ID:
832950

11.

disease

An alteration of health status resulting from a physiopathological mechanism, and having a homogeneous clinical presentation and evolution and homogeneous therapeutic possibilities. Excludes developmental anomalies. [from ORDO]

MedGen UID:
798428
Concept ID:
CN204926
Disease or Syndrome
12.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
13.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
14.

Peripheral neuropathy

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. 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
15.

Peripheral axonal neuropathy

An abnormality characterized by disruption of the normal functioning of peripheral axons. [from HPO]

MedGen UID:
505547
Concept ID:
CN003137
Finding
16.

Cognitive impairment

MedGen UID:
472155
Concept ID:
CN130077
Disease or Syndrome
17.

Hearing impairment

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
446352
Concept ID:
CN000341
Finding
18.

Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)

SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome is characterized by onset of severe hypotonia in early infancy (birth to five months); severe muscular atrophy with failure to achieve independent ambulation; progressive scoliosis or kyphosis; dystonia and/or hyperkinesias (i.e., athetoid or choreiform movements); epilepsy (infantile spasms or generalized convulsions with onset from birth to three years) in a few children; postnatal growth retardation; and severe sensorineural hearing impairment. The outcome is poor with early lethality. [from GeneReviews]

MedGen UID:
413170
Concept ID:
C2749864
Disease or Syndrome
19.

Cognitive impairment

MedGen UID:
383844
Concept ID:
C1856145
Finding
20.

X-linked recessive inheritance

X-linked recessive inheritance refers to genetic conditions associated with mutations in genes on the X chromosome. A male carrying such a mutation will be affected, because he carries only one X chromosome. A female carrying a mutation in one gene, with a normal gene on the other X chromosome, will be unaffected. [from NCI]

MedGen UID:
375779
Concept ID:
C1845977
Finding

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