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Items: 13

1.

Esophagitis

Inflammation of the esophagus. [from HPO]

MedGen UID:
4549
Concept ID:
C0014868
Disease or Syndrome
2.

Eosinophilic esophagitis

Allergic inflammation of the esophagus. Morphologically, it is characterized by the presence of eosinophils infiltrating the esophageal epithelium. Patients present with swallowing difficulty and heartburn. [from NCI]

MedGen UID:
83318
Concept ID:
C0341106
Disease or Syndrome
3.

Eosinophilic infiltration of the esophagus

Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus. [from HPO]

MedGen UID:
1637185
Concept ID:
C4703646
Finding
4.

Allergy

An allergy is an immune response or reaction to substances that are usually not harmful. [from HPO]

MedGen UID:
9370
Concept ID:
C0020517
Pathologic Function
5.

Hematologic disorder

A neoplastic or non-neoplastic disorder that affects the production and proliferation of the hematopoietic cells including lymphoid cells, the synthesis of hemoglobin, and/or the mechanisms of coagulation. [from NCI]

MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome
6.

Inflammation

A finding of a localized protective response resulting from injury or destruction of tissues. Inflammation serves to destroy, dilute, or wall off both the injurious agent and the injured tissue. In the acute phase, inflammation is characterized by the signs of pain, heat, redness, swelling, and loss of function. Histologically, inflammation involves a complex series of events, including dilatation of arterioles, capillaries, and venules, with increased permeability and blood flow; exudation of fluids, including plasma proteins; and leukocyte migration into the site of inflammation. [from NCI]

MedGen UID:
7072
Concept ID:
C0021368
Pathologic Function
7.

Leukocyte disorder

A disease involving leukocytes. [from MONDO]

MedGen UID:
7325
Concept ID:
C0023510
Disease or Syndrome
8.

Esophageal disorder

A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas. [from NCI]

MedGen UID:
8693
Concept ID:
C0014852
Disease or Syndrome
9.

gastroenteritis

An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. [from NCI]

MedGen UID:
8967
Concept ID:
C0017160
Disease or Syndrome
10.

Eosinophilia

Increased count of eosinophils in the blood. [from HPO]

MedGen UID:
41824
Concept ID:
C0014457
Disease or Syndrome
11.

Esophagitis, eosinophilic, 1

Eosinophilic esophagitis (EOE) has an incidence of approximately 1 per 10,000 people. Symptoms include difficulty feeding, failure to thrive, vomiting, epigastric or chest pain, dysphagia, and food impaction. Individuals with EOE are predominantly young males with a high rate of atopic disease, and the diagnosis is made by endoscopy and biopsy findings of isolated eosinophils in the esophagus (summary by Rothenberg et al., 2010). Genetic Heterogeneity of Eosinophilic Esophagitis Eosinophilic esophagitis-1 (EOE1) is associated with variation at chromosome 7q11.2. Another locus (EOE2; 613412) has been been associated with variation in the TSLP gene (607003) on chromosome 5q22. [from OMIM]

MedGen UID:
1634032
Concept ID:
C4551589
Disease or Syndrome
12.

Absence of intrinsic factor

Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12. [from HPO]

MedGen UID:
867280
Concept ID:
C4021641
Finding
13.

Childhood eosinophilic esophagitis

An eosinophilic esophagitis that starts in childhood. [from MONDO]

MedGen UID:
1052360
Concept ID:
CN377172
Disease or Syndrome
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