Mungan syndrome

Preferred Label : Mungan syndrome;

Symbol : MGS;

CISMeF acronym : MGS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Visceral neuromyopathy, familial, with pseudoobstruction, megaduodenum, barrett esophagus, and cardiac abnormalities; Pseudoobstruction, chronic idiopathic intestinal, with barrett esophagus and cardiac abnormalities;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of S. pombe RAD21 (RAD21, 606462.0003);

Prefixed ID : #611376;

Détails

Origin ID

611376;

UMLS CUI

C1969653;

Automatic exact mappings (from CISMeF team)
- Magnesium [MedDRA LLT]
- Mg++ [MedDRA LLT]
- Milligram [NCIt concept]
- Milligram per Second [NCIt concept]
- Milligram percent (qualifier value) [SNOMED CT concept]
- milligram (qualifier value) [SNOMED CT concept]
Currated CISMeF NLP mapping
- mungan syndrome [MeSH concept]
- mungan syndrome [MeSH Supplementary Concept]
False automatic mappings
- Madagascar [NCIt concept]
- Mongolia [NCIt concept]
Genes related to phenotype
- Rad21 cohesin complex component [OMIM gene]
HPO term(s)
- Abnormality of the autonomic nervous system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Barrett esophagus [HPO term]
- Bilateral ptosis [HPO term]
- Hypoperistalsis [HPO term]
- Intestinal pseudo-obstruction [HPO term]
- Megaduodenum [HPO term]
- Perimembranous ventricular septal defect [HPO term]
- Pulmonic stenosis [HPO term]
- Renal hypoplasia [HPO term]
- Tricuspid regurgitation [HPO term]
- Vesicoureteral reflux [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mungan syndrome [MeSH Supplementary Concept]
- mungan syndrome [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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