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Results: 1 to 20 of 26

1.

Xeroderma

A non-neoplastic disorder characterized by abnormally dry skin. Causes include vitamin A deficiency, sunlight exposure, medications, metabolic disorders, autoimmune disorders, and hereditary genetic disorders. [from NCI]

MedGen UID:
53106
Concept ID:
C0043345
Disease or Syndrome
2.

Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals, and marked freckle-like pigmentation of the face before age 2 years in most affected individuals); Ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); and Greatly increased risk of cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years). [from GeneReviews]

MedGen UID:
21943
Concept ID:
C0043346
Congenital Abnormality
3.

DDB Chlorinated Hydrocarbons

MedGen UID:
29077
Concept ID:
C0057188
Pharmacologic Substance
4.

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
5.

Heterogeneous

Made up of elements or ingredients that are not alike. [from NCI_NCI-GLOSS]

MedGen UID:
5539
Concept ID:
C0019409
6.

Mild

The second level of severity in an ordered list based on a five-level scale of minimal, mild, moderate, marked, and severe. [from NCI]

MedGen UID:
422477
Concept ID:
C2945599
7.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
8.

Xeroderma pigmentosum, variant type

Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals, and marked freckle-like pigmentation of the face before age 2 years in most affected individuals); Ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); and Greatly increased risk of cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years). [from GeneReviews]

MedGen UID:
376352
Concept ID:
C1848410
Disease or Syndrome
9.

UV-sensitive syndrome

UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Horibata et al., 2004). Genetic Heterogeneity of UV-Sensitive Syndrome See also UVSS2 (614621), caused by mutation in the ERCC8 gene (609412) on chromosome 5, and UVSS3 (614640), caused by mutation in the UVSSA gene (614632) on chromosome 4p16. [from OMIM]

MedGen UID:
322222
Concept ID:
C1833561
Disease or Syndrome
10.

DNA Repair-Deficiency Disorders

Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE. [from MeSH]

MedGen UID:
327583
Concept ID:
C1563696
Disease or Syndrome
11.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
12.

Condition, Preneoplastic

cellular state in which there is evidence of intracellular changes which could lead to a neoplastic condition. [from CRISP]

MedGen UID:
129147
Concept ID:
C0282313
Neoplastic Process
13.

Pigmentation Disorders

disorders of pigmentation of the skin and other organs, including discoloration, hyperpigmentation and hypopigmentation. [from CRISP]

MedGen UID:
107500
Concept ID:
C0549567
Disease or Syndrome
14.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
15.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
16.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. . You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
17.

Genodermatosis

Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism. [from MeSH]

MedGen UID:
20779
Concept ID:
C0037277
Disease or Syndrome
18.

Disorder of skin

Did you know that your skin is the largest organ of your body? It is, in terms of both weight, between 6 and 9 pounds, and surface area, about 2 square yards. Your skin separates the inside of your body from the outside world. It: -Protects you from bacteria and viruses that can cause infections. -Helps you sense the outside world, such as whether it is hot or cold, wet or dry. -Regulates your body temperature . Conditions that irritate, clog or inflame your skin can cause symptoms such as redness, swelling, burning and itching. Allergies, irritants, your genetic makeup and certain diseases and immune system problems can cause dermatitis, hives and other skin conditions. Many skin problems, such as acne, also affect your appearance.  [from MedlinePlus]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
19.

Precancerous Condition

A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia. [from NCI]

MedGen UID:
19442
Concept ID:
C0032927
Neoplastic Process
20.

Photosensitization

MedGen UID:
19282
Concept ID:
C0031763
Disease or Syndrome

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