Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 44

1.

Sjögren syndrome

Sjogren syndrome is an autoimmune disease that mainly affects the exocrine glands. It is clinically characterized by keratoconjunctivitis sicca and xerostomia (Goransson et al., 2006). See 200400 for association of Sjogren syndrome with achalasia in sisters. [from GTR]

MedGen UID:
282890
Concept ID:
C1527336
Disease or Syndrome
2.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

Acetylcholine

A neurotransmitter found at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system. [from MeSH]

MedGen UID:
7841
Concept ID:
C0001041
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
4.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
5.

Sialoadenitis

An acute or chronic inflammatory process affecting a salivary gland. Signs and symptoms include pain and tenderness in the affected area. [from NCI]

MedGen UID:
48657
Concept ID:
C0037023
Disease or Syndrome
6.

Artificial antigen

small synthetic peptides that mimic surface antigens of pathogens and are immunogenic. [from CRISP]

MedGen UID:
11692
Concept ID:
C0039115
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
7.

Androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS) (see these terms). [from ORDO]

MedGen UID:
799574
Concept ID:
CN205702
Disease or Syndrome
8.

Indicated

MedGen UID:
731837
Concept ID:
C1444656
Finding
9.

Detected

The measurement of the specified component / analyte, organism or clinical sign above the limit of detection of the performed test or procedure.  [from HL7]

MedGen UID:
617726
Concept ID:
C0442726
Finding
10.

Scoliosis, isolated, susceptibility to, 1

Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994). Scoliosis may occur secondary to other hereditary disorders including Marfan syndrome (154700), dysautonomia (223900), neurofibromatosis (see 162200), Friedreich ataxia (see 229300), and muscular dystrophies. Genetic Heterogeneity of Susceptibility to Isolated Scoliosis Loci for isolated scoliosis have been mapped to chromosome 19 (IS1), chromosome 17 (IS2; 607354), chromosome 8 (IS3; 608765), chromosome 9q31-q34 (IS4; 612238), and chromosome 17q25-qter (IS5; 612239). [from GTR]

MedGen UID:
438003
Concept ID:
C2700406
Finding
11.

Schinzel-Giedion syndrome

Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia (summary by Hoischen et al., 2010). [from GTR]

MedGen UID:
341423
Concept ID:
C1849294
12.

Shprintzen-Goldberg syndrome

Shprintzen-Goldberg syndrome (SGS) is characterized by: craniosynostosis of the coronal, sagittal, or lambdoid sutures; dolichocephaly; distinctive craniofacial features; skeletal changes (dolichostenomelia, arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hypermobility or contractures and C1/C2 spine malformation); neurologic abnormalities; intellectual disability; and brain anomalies (hydrocephalus, dilatation of the lateral ventricles, and Chiari 1 malformation). Cardiovascular anomalies may include mitral valve prolapse, mitral regurgitation/incompetence, aortic regurgitation, and aortic root dilatation. Minimal subcutaneous fat, abdominal wall defects, myopia, and cryptorchidism in males are also characteristic findings. [from GTR]

MedGen UID:
231160
Concept ID:
C1321551
Congenital Abnormality; Disease or Syndrome
13.

Pathogenesis

The pathologic, physiologic, or biochemical mechanism resulting in the development of a disease or morbid process. [from NCI]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
14.

Autoimmune reaction

A specific humoral or cell-mediated immune response against autologous (self) antigens. An autoimmune process may produce or be caused by autoimmune disease and may be developmentally complex, not necessarily pathological, and possibly pervasive. [from NCI]

MedGen UID:
105217
Concept ID:
C0443146
Pathologic Function
15.

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
16.

INDIAN BLOOD GROUP SYSTEM

Being or existing in a specified place or at the specified time. [from NCI]

MedGen UID:
57709
Concept ID:
C0150312
Finding
17.

Androgen resistance syndrome

Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia. Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia. Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia. [from GTR]

MedGen UID:
21102
Concept ID:
C0039585
Disease or Syndrome
18.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
19.

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
20.

Increased lacrimation

Abnormally increased lacrimation, that is, excessive tearing (watering eye). [from HPO]

MedGen UID:
57518
Concept ID:
C0152227
Disease or Syndrome; Finding
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center