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Items: 1 to 20 of 38

1.

Gastrin

Gastrin (101 aa, ~11 kDa) is encoded by the human GAST gene. This protein plays a role in the modulation of food digestion by the gastrointestinal system. [from NCI]

MedGen UID:
83946
Concept ID:
C0376180
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
2.

Retinitis pigmentosa

Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by Kaiser et al., 2004). Juvenile Retinitis Pigmentosa Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (see 204000), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Autosomal recessive forms of juvenile retinitis pigmentosa can be caused by mutation in the SPATA7 (609868), LRAT (604863), and TULP1 (602280) genes (see LCA3, 604232, LCA14, 613341, and LCA15, 613843, respectively). An autosomal dominant form of juvenile retinitis pigmentosa (see 604393) is caused by mutation in the AIPL1 gene (604392). [from GTR]

MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome
3.

Pain

An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS. [from MeSH]

MedGen UID:
45282
Concept ID:
C0030193
Sign or Symptom
4.

dermopathy

An abnormality of the skin. [from HPO]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
5.

Pruritus

A skin disorder characterized by an intense itching sensation. [from NCI]

MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
6.

Abnormality of the liver

A non-neoplastic or neoplastic disorder that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and polycystic liver disease. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and angiosarcoma. [from NCI]

MedGen UID:
9792
Concept ID:
C0023895
Disease or Syndrome
7.

Inflammatory abnormality of the skin

An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis. [from NCI]

MedGen UID:
4233
Concept ID:
C0011603
Disease or Syndrome
8.

Pain

MedGen UID:
880950
Concept ID:
CN236637
Disease or Syndrome
9.

Inflammatory abnormality of the skin

The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. [from HPO]

MedGen UID:
849741
Concept ID:
C3875321
Disease or Syndrome
10.

Neuropathic pain

Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury. [from NCI]

MedGen UID:
811414
Concept ID:
C3714625
Finding
11.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
12.

Atopic dermatitis

MedGen UID:
338253
Concept ID:
C1847528
13.

Triggered by

A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation. [from HPO]

MedGen UID:
252950
Concept ID:
C1444748
Qualitative Concept
14.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
15.

Chronic

Slow, creeping onset, slow progress and long continuance of disease manifestations. [from HPO]

MedGen UID:
104657
Concept ID:
C0205191
Temporal Concept
16.

Mediator

An agent that acts as a link between parties, objects, or actions. [from NCI]

MedGen UID:
93010
Concept ID:
C0127400
Organic Chemical; Pharmacologic Substance
17.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
18.

Problem

A difficulty, disorder, or condition needing resolution. [from NCI]

MedGen UID:
46106
Concept ID:
C0033213
Finding
19.

Dermatitis, atopic

Atopic dermatitis (ATOD), also known as eczema, is a common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life (review by Soderhall et al., 2007). Genetic Heterogeneity of Atopic Dermatitis Many inflammatory diseases, such as atopic eczema, are genetically complex, with multiple alleles at several loci thought to be involved in their pathogenesis. Several susceptibility loci for atopic dermatitis have been identified: ATOD1 on chromosome 3q21, ATOD2 (605803) on chromosome 1q21, ATOD3 (605804) on chromosome 20p, ATOD4 (605805) on chromosome 17q25.3, ATOD5 (603165) on chromosome 13q12-q14, ATOD6 (605845) on chromosome 5q31-q33, ATOD7 (613064) on chromosome 11q13.5, ATOD8 (613518) on chromosome 4q22.1, and ATOD9 (613519) on chromosome 3p24. [from GTR]

MedGen UID:
41502
Concept ID:
C0011615
Disease or Syndrome
20.

Suffering, Physical

MedGen UID:
148302
Concept ID:
C0751408
Sign or Symptom
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