Megacystis-microcolon-intestinal hypoperistalsis syndrome 5

Preferred Label : Megacystis-microcolon-intestinal hypoperistalsis syndrome 5;

Symbol : MMIHS5;

Type : Phenotype, molecular basis known;

Prefixed ID : #619431;

Détails

Origin ID

619431;

UMLS CUI

C5543636;

Genes related to phenotype
- Actin, gamma-2, smooth muscle, enteric [OMIM gene]
HPO term(s)
- Congenital onset [HPO term]
- Fetal onset [HPO term]
- Hepatic failure [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Intestinal malrotation [HPO term]
- Megacystis [HPO term]
- Microcolon [HPO term]
- Oligohydramnios [HPO term]
- Portal hypertension [HPO term]
ORDO concept(s)
- Megacystis-microcolon-intestinal hypoperistalsis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients