Megacystis-microcolon-intestinal hypoperistalsis syndrome 4

Preferred Label : Megacystis-microcolon-intestinal hypoperistalsis syndrome 4;

Symbol : MMIHS4;

Type : Phenotype, molecular basis known;

Prefixed ID : #619365;

Details

Origin ID

619365;

UMLS CUI

C5543519;

Genes related to phenotype
- Myosin light chain 9, regulatory [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral white matter atrophy [HPO term]
- Fetal pyelectasis [HPO term]
- Hypoperistalsis [HPO term]
- Megacystis [HPO term]
- Mydriasis [HPO term]
- Nephrolithiasis [HPO term]
- Oligohydramnios [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent urinary tract infections [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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