Megacystis-microcolon-intestinal hypoperistalsis syndrome 1

Preferred Label : Megacystis-microcolon-intestinal hypoperistalsis syndrome 1;

Symbol : MMIHS1;

CISMeF acronym : MMIHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the myosin light chain kinase gene (MYLK, 600922.0003);

Prefixed ID : #249210;

Details

Origin ID

249210;

UMLS CUI

C5542316;

Genes related to phenotype
- Myosin light chain kinase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Fetal megacystis [HPO term]
- Generalized edema [HPO term]
- Hydroureter [HPO term]
- Intestinal malrotation [HPO term]
- Oligohydramnios [HPO term]
ORDO concept(s)
- Megacystis-microcolon-intestinal hypoperistalsis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Berdon's syndrome [MedDRA Preferred Term]
- MMIH Syndrome [NCIt concept]
- Megacystis microcolon intestinal hypoperistalsis syndrome [MeSH concept]
- Megacystis, microcolon, hypoperistalsis syndrome (disorder) [SNOMED CT concept]
- Megacystis-microcolon-intestinal hypoperistalsis syndrome [ORDO Disease]
- megacystis microcolon intestinal hypoperistalsis syndrome [MeSH Supplementary Concept]
- megacystis-microcolon-intestinal hypoperistalsis syndrome [DO Concept]
Validated automatic mappings to NTBT
- Berdon's syndrome [MedDRA Preferred Term]
- MMIH Syndrome [NCIt concept]
- Megacystis microcolon intestinal hypoperistalsis syndrome [MeSH concept]
- Megacystis, microcolon, hypoperistalsis syndrome (disorder) [SNOMED CT concept]
- Megacystis-microcolon-intestinal hypoperistalsis syndrome [ORDO Disease]
- Megacystis-microcolon-intestinal hypoperistalsis syndrome [ACR pathology]
- megacystis microcolon intestinal hypoperistalsis syndrome [MeSH Supplementary Concept]
- megacystis-microcolon-intestinal hypoperistalsis syndrome [DO Concept]

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