National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Mitochondrial Neurogastrointestinal Encephalopathy
Synonyms

Mitochondrial Neurogastrointestinal Encephalopathy

MNGIE

Definitions

A rare, autosomal recessive inherited disorder caused by mutation in the TYMP gene. It affects several parts of the body, particularly the gastrointestinal tract and nervous system. Signs and symptoms can appear in infancy, but they often begin by age twenty. The gastrointestinal signs and symptoms result from gastrointestinal dysmotility and include fullness after eating small amounts of food, dysphagia, nausea and vomiting after eating, abdominal pain, diarrhea, and intestinal blockage. The nervous system abnormalities include leukoencephalopathy, tingling, numbness, peripheral neuropathy, ptosis, ophthalmoplegia, and hearing loss.

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C119678

code

C119678

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168

Contributing_Source

CTRP

DEFINITION

A rare, autosomal recessive inherited disorder caused by mutation in the TYMP gene. It affects several parts of the body, particularly the gastrointestinal tract and nervous system. Signs and symptoms can appear in infancy, but they often begin by age twenty. The gastrointestinal signs and symptoms result from gastrointestinal dysmotility and include fullness after eating small amounts of food, dysphagia, nausea and vomiting after eating, abdominal pain, diarrhea, and intestinal blockage. The nervous system abnormalities include leukoencephalopathy, tingling, numbness, peripheral neuropathy, ptosis, ophthalmoplegia, and hearing loss.

Display_Name

Mitochondrial Neurogastrointestinal Encephalopathy

FULL_SYN

Mitochondrial Neurogastrointestinal Encephalopathy

MNGIE

label

Mitochondrial Neurogastrointestinal Encephalopathy

Preferred_Name

Mitochondrial Neurogastrointestinal Encephalopathy

prefixIRI

Thesaurus:C119678

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0872218

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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