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Items: 1 to 20 of 37

1.

Congenital short bowel syndrome

Infants with congenital short bowel syndrome are born with a shortened small intestine, with a mean length of 50 cm compared to the normal length of 190 to 280 cm, and intestinal malrotation. Severe malnutrition develops as a result of the hugely reduced absorptive surface of the small intestine, and infants require parenteral nutrition for survival; however, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life (summary by van der Werf et al., 2012). [from GTR]

MedGen UID:
5864
Concept ID:
C0021847
Disease or Syndrome
2.

Intestinal pseudo-obstruction

A functional rather than mechanical obstruction of the intestines. [from HPO]

MedGen UID:
505620
Concept ID:
CN003888
Finding
3.

Pseudo-obstruction of gastrointestinal tract

MedGen UID:
83071
Concept ID:
C0333173
Pathologic Function
4.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
5.

Diffuse

A spatial pattern that is spread out, i.e., not localized. [from HPO]

MedGen UID:
61387
Concept ID:
C0205219
Spatial Concept
6.

Abnormal

Deviating in any way from the state, position, structure, condition, behavior, or rule which is considered a norm. [from NCI]

MedGen UID:
59964
Concept ID:
C0205161
Finding
7.

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
8.

Obstruction

Blockage of the normal flow of the contents of an anatomical passageway. [from NCI]

MedGen UID:
18135
Concept ID:
C0028778
Pathologic Function
9.

Rare Disorder

A disease that affects fewer than 200,000 people in the United States. [from NCI]

MedGen UID:
146261
Concept ID:
C0678236
Disease or Syndrome
10.

Peripheral neuropathy

A disorder affecting the cranial nerves or the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. [from NCI]

MedGen UID:
141046
Concept ID:
C0442874
Disease or Syndrome
11.

X-linked hereditary disease

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. [from MeSH]

MedGen UID:
222910
Concept ID:
C1138434
Disease or Syndrome
12.

Ileus

A condition caused by the lack of intestinal PERISTALSIS or INTESTINAL MOTILITY without any mechanical obstruction. This interference of the flow of INTESTINAL CONTENTS often leads to INTESTINAL OBSTRUCTION. Ileus may be classified into postoperative, inflammatory, metabolic, neurogenic, and drug-induced. [from MeSH]

MedGen UID:
219874
Concept ID:
C1258215
Disease or Syndrome
13.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
14.

Intestinal obstruction

Any impairment, arrest, or reversal of the normal flow of INTESTINAL CONTENTS toward the ANAL CANAL. [from MeSH]

MedGen UID:
43933
Concept ID:
C0021843
Disease or Syndrome
15.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
16.

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
17.

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
18.

Abnormality of the gastrointestinal tract

An abnormality of the gastrointestinal tract. [from HPO]

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

Visceral myopathy

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014). Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (277320). Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (100100) and Barrett esophagus (Mungan syndrome; 611376). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see 609629). [from GTR]

MedGen UID:
331900
Concept ID:
C1835084
Disease or Syndrome
20.

Myopathy, Visceral

MedGen UID:
22658
Concept ID:
C0042781
Disease or Syndrome
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