osteogenesis imperfecta, type 18
MONDO:0044329Mondo
Findings
No curated finding names osteogenesis imperfecta, type 18 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
11 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.
- Blue scleraeHPOHP:0000592
- 4 of 4 reported patients · Infantile onset
- Femoral bowingHPOHP:0002980
- 4 of 4 reported patients
- Recurrent fracturesHPOHP:0002757
- 4 of 4 reported patients · Infantile onset
- Wormian bonesHPOHP:0002645
- 3 of 4 reported patients
- Umbilical herniaHPOHP:0001537
- 1 of 4 reported patients · Congenital onset
- Biconcave vertebral bodiesHPOHP:0004586
- Bowing of the long bonesHPOHP:0006487
- Broad foreheadHPOHP:0000337
- Generalized osteoporosisHPOHP:0040160
- Thin bony cortexHPOHP:0002753
- Thin ribsHPOHP:0000883
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.
- TENT5AHGNC:18345
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025