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Items: 9

1.

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
2.

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
3.

Shock

A life-threatening condition that requires immediate medical intervention. It is characterized by reduced blood flow that may result in damage of multiple organs. Types of shock include cardiogenic, hemorrhagic, septic, anaphylactic, and traumatic shock. [from NCI]

MedGen UID:
20738
Concept ID:
C0036974
Pathologic Function
4.

Phosphorylation

The creation of a phosphate derivative of an organic molecule. This is usually achieved by transferring a phosphate group from ATP via the action of a kinase. [from NCI]

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function
5.

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
6.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
7.

Mutagenesis

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
8.

Reason for transfer

MedGen UID:
879282
Concept ID:
C4047608
Finding
9.

Complex V deficiency

MedGen UID:
452448
Concept ID:
C0342779
Disease or Syndrome
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