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Items: 10

1.

Immunodeficiency 31B

Immunodeficiency-31B (IMD31B) results from autosomal recessive (AR) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA (147660)/IFNB (147640) (type I interferon) and IFNG (147570) (type III interferon). AR STAT1 deficiency affects both the IFNA/IFNB and the IFNG pathways, resulting in susceptibility to mycobacteria, Salmonella, and viruses, with a severe disease course and often fatal outcome (review by Al-Muhsen and Casanova, 2008). [from OMIM]

MedGen UID:
462438
Concept ID:
C3151088
Disease or Syndrome
2.

Salmonella gastroenteritis

An intestinal bacterial disease caused by Salmonella bacteria. [from NCI]

MedGen UID:
48541
Concept ID:
C0036114
Disease or Syndrome
3.

Salmonella osteomyelitis

Osteomyelitis caused by infection with the bacteria, salmonella. [from HPO]

MedGen UID:
56294
Concept ID:
C0152491
Disease or Syndrome
4.

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

IMD29 results from autosomal recessive IL12B deficiency and is characterized by undetectable IL12B secretion from leukocytes. IL12B-deficient patients generally present with bacillus Calmette-Guerin (BCG) disease after vaccination in childhood, and at least half also have Salmonella infection. Infections with Mycobacterium tuberculosis and environmental mycobacteria have also been reported in IL12B-deficient patients. The phenotype is relatively mild, and patients have a good prognosis (review by Al-Muhsen and Casanova, 2008). [from OMIM]

MedGen UID:
862385
Concept ID:
C4013948
Disease or Syndrome
5.

Salmonella infection

Rare form of salmonellosis is a group of rare invasive salmonellosis that includes infection with <i>Salmonella enterica</i> typhoidal species (<i>S.</i> typhi and <i>S.</i> paratyphi) that results in enteric fever, and infection by invasive non-typhoidal species (typically strains of <i>S.</i> typhimurium and <i>S.</i> enteritidis) which have a high burden amongst immunocompromised or malnourished individuals, and results in bacteriemia, systemic febrile disease, and variable manifestations including lower respiratory tract infection and splenomegaly. [from ORDO]

MedGen UID:
48542
Concept ID:
C0036117
Disease or Syndrome
6.

BCG and Salmonella infection, disseminated

MedGen UID:
349181
Concept ID:
C1859528
Disease or Syndrome
7.

Invasive non-typhoidal salmonellosis

A rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomiting, abdominal pain) are not common. Occasionally, organ abscesses, septic shock and meningitis may be observed. [from SNOMEDCT_US]

MedGen UID:
1638286
Concept ID:
C4706572
Disease or Syndrome
8.

Paratyphoid fever

A rare form of salmonellosis caused by Salmonella enterica serovar Paratyphi A, B and C, characterized by typical symptoms of enteric fever including high fever, headache, abdominal pain and intestinal symptoms, dry cough, chills, and rashes, followed by a long period of recovery. The infection can be complicated by intestinal hemorrhage and perforation, as well as cardiac involvement, and may even be fatal. Transmission of the pathogen is via the fecal-oral route, with humans as the sole reservoir of infection. [from ORDO]

MedGen UID:
18303
Concept ID:
C0030528
Disease or Syndrome
9.

Bacterial infectious disease

An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. [from NCI]

MedGen UID:
14012
Concept ID:
C0004623
Disease or Syndrome
10.

Typhoid fever

Typhoid or typhoid fever is a reportable, fecal-oral, potentially fatal infectious disease, caused by the bacteria <i>Salmonella typhi</i> and characterized by a non-focal fever. [from ORDO]

MedGen UID:
11973
Concept ID:
C0041466
Disease or Syndrome
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