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Items: 1 to 20 of 72

1.

Motor polyneuropathy

MedGen UID:
82885
Concept ID:
C0271683
Disease or Syndrome
2.

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:
141046
Concept ID:
C0442874
Disease or Syndrome
3.

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
4.

sural

MedGen UID:
122763
Concept ID:
C0626053
Pharmacologic Substance
5.

External ophthalmoplegia

Paralysis of the external ocular muscles. [from HPO]

MedGen UID:
57662
Concept ID:
C0162292
Disease or Syndrome
6.

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
7.

Ophthalmoplegia

Paralysis of one or more extraocular muscles that are responsible for eye movements. [from HPO]

MedGen UID:
45205
Concept ID:
C0029089
Sign or Symptom
8.

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
9.

Multiple congenital anomalies

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

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
10.

Abnormality of the mitochondrion

An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. [from HPO]

MedGen UID:
892403
Concept ID:
C4023042
Anatomical Abnormality
11.

Accumulation

An increase of substance (e.g., proteinaceous fluid and glycogen) in either the intracellular space, extracellular space, or within a hollow organ or structure. [from NCI_CDISC]

MedGen UID:
883922
Concept ID:
C4055506
Finding
12.

axonal polyneuropathy

MedGen UID:
851829
Concept ID:
CN233199
Finding
13.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
14.

Mitochondrial myopathy

A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers. [from HPO]

MedGen UID:
505582
Concept ID:
CN003376
Finding
15.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from HPO]

MedGen UID:
505479
Concept ID:
CN002886
Finding
16.

Progressive external ophthalmoplegia

Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades. [from HPO]

MedGen UID:
504513
Concept ID:
CN000553
Finding
17.

Multiple mitochondrial DNA deletions

The presence of multiple deletions of mitochondrial DNA (mtDNA). [from HPO]

MedGen UID:
479006
Concept ID:
C3277376
Finding
18.

mitochondrial DNA depletion

MedGen UID:
452449
Concept ID:
C0342782
Disease or Syndrome
19.

Axonal degeneration

MedGen UID:
332464
Concept ID:
C1837496
Finding
20.

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
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