loading...| 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 MMIHS Megacystis microcolon intestinal hypoperistalsis syndrome MMIH syndrome |
| cui |
C1608393 |
| Has mapping qualifier | |
| 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 |
| MDA |
20100825 |
| MeSH Frequency |
57 |
| MMR |
20190618 |
| 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 T000961197 T000961198 T738370 |
| TH |
ORD (2010) OMIM (2013) NLM (2019) |
| tui |
T047 |