Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 22

1.

Diarrhea 5, with tufting enteropathy, congenital

Congenital tufting enteropathy (CTE) is a rare inherited intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum. CTE presents in the first few months of life with chronic watery diarrhea and failure to thrive, and most affected individuals require parenteral nutrition for normal growth and development (summary by Sivagnanam et al., 2008). Semiquantitative assessment of the epithelial surface in CTE patients revealed that 80 to 90% contained tufts, compared to only 16% in patients with celiac disease and less than 10% in normal jejunum (Reifen et al., 1994). For a discussion of phenotypic and genetic heterogeneity of congenital diarrhea, see DIAR1 (214700). [from GTR]

MedGen UID:
413031
Concept ID:
C2750737
Disease or Syndrome
2.

Abnormality of the intestine

A non-neoplastic or neoplastic disorder that affects the small or large intestine. [from NCI]

MedGen UID:
7130
Concept ID:
C0021831
Disease or Syndrome
3.

Malabsorption

Impaired ability to absorb one or more nutrients from the intestine. [from HPO]

MedGen UID:
811453
Concept ID:
C3714745
Finding
4.

Diarrheal disorder

MedGen UID:
713159
Concept ID:
C1290807
Disease or Syndrome
5.

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
6.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
7.

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
8.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
9.

Dysplasia

A usually neoplastic transformation of the cell, associated with altered architectural tissue patterns. The cellular changes include nuclear and cytoplasmic abnormalities. Molecular genetic abnormalities are also often found and, in some instances, may lead to cancer. [from NCI]

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function
10.

Adhesion

A fibrous band of tissue that connects normally separate body regions.(NICHD) [from NCI]

MedGen UID:
7891
Concept ID:
C0001511
Pathologic Function
11.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
12.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
13.

Signs and Symptoms, Digestive

Digestive system manifestations of diseases of the gastrointestinal system or of other organs. [from MeSH]

MedGen UID:
19975
Concept ID:
C0037089
Sign or Symptom
14.

Clinical finding

Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from MeSH]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
15.

Gastrointestinal disease

A non-neoplastic or neoplastic disorder that affects the gastrointestinal tract, anus, liver, biliary system, and pancreas. [from NCI]

MedGen UID:
8970
Concept ID:
C0017178
Disease or Syndrome
16.

Infantile diarrhea

DIARRHEA occurring in infants from newborn to 24-months old. [from MeSH]

MedGen UID:
8361
Concept ID:
C0011992
Sign or Symptom
17.

Diarrhea

Abnormally increased frequency of loose or watery bowel movements. [from HPO]

MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
18.

Abnormality of the gastrointestinal tract

An abnormality of the gastrointestinal tract. [from HPO]

MedGen UID:
3828
Concept ID:
C0012242
Disease or Syndrome
19.

Digestive System Dysplasia

A finding indicating the presence of morphologic features of neoplasia in the epithelium of any part of the digestive system without evidence of invasion. These features include architectural and cytological epithelial alterations. [from NCI]

MedGen UID:
854585
Concept ID:
C3887824
Neoplastic Process
20.

Partial deletion of chromosome 2

MedGen UID:
832601
Concept ID:
CN227010
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