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Results: 1 to 20 of 48

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:
504838
Concept ID:
CN001305
Finding
2.

Diabetes-deafness syndrome maternally transmitted

Maternally inherited diabetes-deafness syndrome (MIDD) is a mitochondrial disorder characterized by onset of sensorineural hearing loss and diabetes in adulthood. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms (Ballinger et al., 1992; Reardon et al., 1992; Guillausseau et al., 2001). The association of diabetes and deafness is observed with Wolfram syndrome (see 222300), Rogers syndrome (249270), and Herrmann syndrome (172500), but all 3 of these disorders have other clinical manifestations. [from OMIM]

MedGen UID:
90979
Concept ID:
C0342289
Congenital Abnormality
3.

Complete deafness

MedGen UID:
108418
Concept ID:
C0581883
Finding
4.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
5.

Glutamic Acid

One of twenty amino acids (molecules that join together to form proteins). Glutamic acid may help nerve cells send and receive information from other cells. It is being studied for its ability to decrease or prevent nerve damage caused by anticancer drugs. [from NCI]

MedGen UID:
29630
Concept ID:
C0061472
Pharmacologic Substance
6.

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
7.

Insulin

A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1). [from MeSH]

MedGen UID:
5827
Concept ID:
C0021641
Pharmacologic Substance
8.

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
9.

Profound

MedGen UID:
615266
Concept ID:
C0439808
10.

Energy

MedGen UID:
603300
Concept ID:
C0424589
Finding
11.

Resonance

MedGen UID:
534094
Concept ID:
C0231881
Finding
12.

Novel Mutation

A newly discovered, distinct gene alteration; NOT the same as new or de novo mutation. [from NCI]

MedGen UID:
457664
Concept ID:
C2985438
Cell or Molecular Dysfunction
13.

Hearing impairment

A `decreased magnitude` (PATO:0002018) of the `sensory perception of sound` (GO:0007605). [from HPO]

MedGen UID:
446352
Concept ID:
CN000341
Finding
14.

Impairment

A loss of part or all of a physical or mental ability, such as the ability to see, walk, or learn. [from NCI]

MedGen UID:
151925
Concept ID:
C0684336
Pathologic Function
15.

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
16.

Dysacusis

MedGen UID:
267601
Concept ID:
C1510450
Sign or Symptom
17.

hearing impairment

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

MedGen UID:
235586
Concept ID:
C1384666
Finding
18.

Disorder of glucose metabolism

Pathological conditions in which the BLOOD GLUCOSE cannot be maintained within the normal range, such as in HYPOGLYCEMIA and HYPERGLYCEMIA. Etiology of these disorders varies. Plasma glucose concentration is critical to survival for it is the predominant fuel for the CENTRAL NERVOUS SYSTEM. [from MeSH]

MedGen UID:
226229
Concept ID:
C1257958
Disease or Syndrome
19.

Deafness, Acquired

MedGen UID:
196717
Concept ID:
C0751068
Disease or Syndrome
20.

Age-related macular degeneration

Age-related macular degeneration is an eye disease that is a leading cause of vision loss in older people in developed countries. The vision loss usually becomes noticeable in a person's sixties or seventies and tends to worsen over time. Age-related macular degeneration mainly affects central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. The vision loss in this condition results from a gradual deterioration of light-sensing cells in the tissue at the back of the eye that detects light and color (the retina). Specifically, age-related macular degeneration affects a small area near the center of the retina, called the macula, which is responsible for central vision. Side (peripheral) vision and night vision are generally not affected. Researchers have described two major types of age-related macular degeneration, known as the dry form and the wet form. The dry form is much more common, accounting for 85 to 90 percent of all cases of age-related macular degeneration. It is characterized by a buildup of yellowish deposits called drusen beneath the retina and slowly progressive vision loss. The condition typically affects vision in both eyes, although vision loss often occurs in one eye before the other. The wet form of age-related macular degeneration is associated with severe vision loss that can worsen rapidly. This form of the condition is characterized by the growth of abnormal, fragile blood vessels underneath the macula. These vessels leak blood and fluid, which damages the macula and makes central vision appear blurry and distorted.
[from GHR]

MedGen UID:
116576
Concept ID:
C0242383
Disease or Syndrome

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