Osteootohepatoenteric syndrome

Preferred Label : Osteootohepatoenteric syndrome;

Symbol : OOHE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : O2HE;

Prefixed ID : #619377;

Details

Origin ID

619377;

UMLS CUI

C5543557;

Genes related to phenotype
- Unc45 myosin chaperone a [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Anemia [HPO term]
- Asthma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Avascular necrosis of the capital femoral epiphysis [HPO term]
- Blue sclerae [HPO term]
- Cholestasis [HPO term]
- Dehydration [HPO term]
- Episodic vomiting [HPO term]
- Failure to thrive [HPO term]
- Food intolerance [HPO term]
- Global developmental delay [HPO term]
- Grade II vesicoureteral reflux [HPO term]
- Hearing impairment [HPO term]
- Hepatic fibrosis [HPO term]
- Hip dysplasia [HPO term]
- Hydrocephalus [HPO term]
- Hypokalemia [HPO term]
- Ileoileal intussusception [HPO term]
- Increased intestinal transit time [HPO term]
- Increased serum bile acid concentration [HPO term]
- Large forehead [HPO term]
- Microvesicular hepatic steatosis [HPO term]
- Portal fibrosis [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Proteinuria [HPO term]
- Pruritus [HPO term]
- Recurrent fractures [HPO term]
- Reduced bone mineral density [HPO term]
- Secretory diarrhea [HPO term]
- Villous atrophy [HPO term]
- Weight loss [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteootohepatoenteric Syndrome [NCIt concept]

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