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Items: 19

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), with marked freckle-like pigmentation of the face before age two years in most affected individuals; Sunlight-induced ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); Greatly increased risk of sunlight-induced 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 GTR]

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

DNA damage

Drug-, radiation-induced, or spontaneous injuries to DNA that introduce deviations from its normal double-helical conformation. These changes include structural distortions that interfere with replication and transcription, as well as point mutations that disrupt base pairs and exert damaging effects on future generations through changes in DNA sequence. If the damage is minor, it can often be repaired (DNA repair); extensive damage can induce apoptosis. [from NCI]

MedGen UID:
3880
Concept ID:
C0012860
Cell or Molecular Dysfunction
4.

Cyclic adenosine monophosphate

A second messenger molecule comprised of an adenine ribonucleotide bearing a phosphate group bound to the oxygen molecules at the 3' and 5' positions of the sugar moiety. Cyclic AMP, which is synthesized from ATP by the intracellular enzyme adenylate cyclase, modulates the activity of several hormone-dependent signal transduction pathways. [from NCI]

MedGen UID:
1328
Concept ID:
C0001455
Biologically Active Substance; Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
5.

CI

Used for biological phenomena, diseases, syndromes, congenital abnormalities, or symptoms caused by endogenous or exogenous substances. [from MeSH]

MedGen UID:
878
Concept ID:
C0007994
Pathologic Function
6.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
7.

Agonist

An agent that has affinity for a receptor and intrinsic activity at that receptor. [from NCI]

MedGen UID:
459858
Concept ID:
C2987634
Pharmacologic Substance
8.

Melanocyte stimulating hormone

Peptides with the ability to stimulate pigmented cells MELANOCYTES in mammals and MELANOPHORES in lower vertebrates. By stimulating the synthesis and distribution of MELANIN in these pigmented cells, they increase coloration of skin and other tissue. MSHs, derived from pro-opiomelanocortin (POMC), are produced by MELANOTROPHS in the INTERMEDIATE LOBE OF PITUITARY; CORTICOTROPHS in the ANTERIOR LOBE OF PITUITARY, and the hypothalamic neurons in the ARCUATE NUCLEUS OF HYPOTHALAMUS. [from MeSH]

MedGen UID:
6450
Concept ID:
C0026667
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
9.

Tumorigenesis

A pathologic process that involves the transformation of normal cells to a neoplastic state and resulting in polyclonal or monoclonal neoplastic cell proliferation. [from NCI]

MedGen UID:
3302
Concept ID:
C0007621
Neoplastic Process
10.

Physical Appearance, Body

The superficial physical looks, characteristics or qualities of an individual as distinguished from the underlying unseen nature or attributes. [from MeSH]

MedGen UID:
852751
Concept ID:
C0750731
Sign or Symptom
11.

Colforsin

Potent activator of the adenylate cyclase system and the biosynthesis of cyclic AMP. From the plant COLEUS FORSKOHLII. Has antihypertensive, positive inotropic, platelet aggregation inhibitory, and smooth muscle relaxant activities; also lowers intraocular pressure and promotes release of hormones from the pituitary gland. [from MeSH]

MedGen UID:
214628
Concept ID:
C0917964
Organic Chemical; Pharmacologic Substance
12.

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
13.

Opiocortin

MedGen UID:
34046
Concept ID:
C0069575
Hormone; Pharmacologic Substance
14.

Tyrosine

A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin. [from MeSH]

MedGen UID:
21746
Concept ID:
C0041485
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
15.

dermopathy

An abnormality of the skin. [from HPO]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
16.

Hormones, Hormone Substitutes, and Hormone Antagonists

A collective grouping for both naturally occurring and synthetic hormones, substitutes, and antagonists. [from MeSH]

MedGen UID:
6887
Concept ID:
C0019934
Pharmacologic Substance
17.

Amino acid

Any organic compounds containing amino (-NH2) and carboxyl (-COOH) groups. In biochemistry, used to refer to the twenty-plus L-alpha-amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
18.

Fair therapeutic response

MedGen UID:
512375
Concept ID:
C0184784
Finding
19.

Drug pigmentation

MedGen UID:
507658
Concept ID:
C0013196
Sign or Symptom
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