Megacystis-microcolon-intestinal hypoperistalsis syndrome 3

Preferred Label : Megacystis-microcolon-intestinal hypoperistalsis syndrome 3;

Symbol : MMIHS3;

Type : Phenotype, molecular basis known;

Prefixed ID : #619362;

Details

Origin ID

619362;

UMLS CUI

C5543513;

Genes related to phenotype
- Leiomodin 1 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Autosomal recessive inheritance [HPO term]
- Fetal megacystis [HPO term]
- Fetal onset [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Megacystis [HPO term]
- Microcolon [HPO term]
- Neonatal death [HPO term]
- Polyhydramnios [HPO term]
- Sepsis [HPO term]
Not associated HPO term(s)
- Abnormal heart morphology [HPO term]
ORDO concept(s)
- Megacystis-microcolon-intestinal hypoperistalsis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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