Medical Subject Headings

Last uploaded: November 5, 2019

Preferred Name	Megacystis microcolon intestinal hypoperistalsis syndrome
Synonyms	Berdon syndrome
ID	http://purl.bioontology.org/ontology/MESH/C536138
altLabel	Berdon syndrome Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
cui	C1608393
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000002
HM	D001743/Q000002 D003106/Q000002 D007418 D000015
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D003106 http://purl.bioontology.org/ontology/MESH/D007418 http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D001743
MDA	20100825
MeSH Frequency	40
MMR	20150818
notation	C536138
prefLabel	Megacystis microcolon intestinal hypoperistalsis syndrome
SC	3
Scope Statement	An rare inherited (autosomal dominant) intestinal pseudo-obstruction characterized by impaired function of enteric SMOOTH MUSCLE MYOCYTES resulting in abnormal intestinal mobility, severe ABDOMINAL PAIN, MALNUTRITION, and potentially death. The most severe cases exhibit prenatal BLADDER enlargement, intestinal malrotation, and neonatal functional gastrointestinal obstruction. Mutations in the ACTG2 gene have been identifed. OMIM: 155310
TERMUI	T738368 T802507 T738370
TH	ORD (2010) OMIM (2013)
tui	T047

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_0060610	Human Disease Ontology 123	LOOM
	http://purl.bioontology.org/ontology/OMIM/155310	Online Mendelian Inheritance in Man	CUI