Bruck syndrome 2
MONDO:0012217Mondo
Findings
No curated finding names Bruck syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012217), read 2026-09-29. CC BY 4.0.
Features
2 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.
- Cervical C6/C7 vertebrae fusionHPOHP:6000807
- 1 of 1 reported patient
- Metaphyseal undermodellingHPOHP:6001098
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.
- PLOD2HGNC:9082
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: Bruck syndrome 2
- Also called
- Bruck syndrome caused by mutation in PLOD2Bruck syndrome type 2PLOD2 Bruck syndrome