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.

http://purl.obolibrary.org/obo/NCIT_C119678

C119678

CTRP

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.

Mitochondrial Neurogastrointestinal Encephalopathy

http://purl.obolibrary.org/obo/NCIT_C116977

http://purl.obolibrary.org/obo/NCIT_C118168

Mitochondrial Neurogastrointestinal Encephalopathy

Mitochondrial Neurogastrointestinal Encephalopathy

NCIT:C119678

Mitochondrial Neurogastrointestinal Encephalopathy

Disease or Syndrome

C0872218

http://purl.obolibrary.org/obo/NCIT_C53543