osteootohepatoenteric syndrome
MONDO:0859164Mondo
Findings
No curated finding names osteootohepatoenteric syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CholestasisHPOHP:0001396
- 4 of 4 reported patients
- Hearing impairmentHPOHP:0000365
- 4 of 4 reported patients
- Recurrent fracturesHPOHP:0002757
- 4 of 4 reported patients
- Secretory diarrheaHPOHP:0005208
- 4 of 4 reported patients
- DehydrationHPOHP:0001944
- 2 of 4 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 4 reported patients
- Increased serum bile acid concentrationHPOHP:0012202
- 2 of 4 reported patients
- Prolonged neonatal jaundiceHPOHP:0006579
- 2 of 4 reported patients
- PruritusHPOHP:0000989
- 2 of 4 reported patients
- Reduced bone mineral densityHPOHP:0004349
- 2 of 4 reported patients
- Villous atrophyHPOHP:0011473
- 2 of 4 reported patients
Show the remaining 19
- Abdominal painHPOHP:0002027
- 1 of 4 reported patients
- AnemiaHPOHP:0001903
- 1 of 4 reported patients
- AsthmaHPOHP:0002099
- 1 of 4 reported patients
- Avascular necrosis of the capital femoral epiphysisHPOHP:0005743
- 1 of 4 reported patients
- Blue scleraeHPOHP:0000592
- 1 of 4 reported patients
- Episodic vomitingHPOHP:0002572
- 1 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- UNC45AHGNC:30594
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of