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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C536138
http://purl.bioontology.org/ontology/MESH/C536138
|
|---|---|
| Preferred Name | Megacystis microcolon intestinal hypoperistalsis syndrome |
| Synonyms |
MMIHS Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Berdon syndrome
MMIH syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MMIHS Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Berdon syndrome
MMIH syndrome
|
|---|---|
| prefLabel | Megacystis microcolon intestinal hypoperistalsis syndrome
|
| 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
|
| type | |
| tui | T047
|
| Has mapping qualifier | |
| HM |
D001743/Q000002
D003106/Q000002
D000015
D007418
|
| SC | 3
|
| TERMUI |
T000961198
T738368
T738370
T000961197
T802507
|
| TH |
OMIM (2013)
NLM (2019)
ORD (2010)
|
| MMR | 20190618
|
| notation | C536138
|
| Semantic type UMLS property | |
| cui | C1608393
|
| MeSH Frequency | 57
|
| DSC | 20100825
|
| Inverse of RB | 0
|
| Mapped to | |
| MDA | 20100825
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |