epiphyseal dysplasia, multiple, 3
Findings
No curated finding names epiphyseal dysplasia, multiple, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.
Definition from the Mondo Disease Ontology (MONDO:0010964), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Knee painHPOHP:0030839
- 6 of 8 reported patients
- Limited knee extensionHPOHP:0003066
- 4 of 8 reported patients
- Limited elbow extensionHPOHP:0001377
- 2 of 8 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- Proximal muscle weaknessHPOHP:0003701
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.
- COL9A3HGNC:2219
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2017
- Moderate · Illumina · Autosomal dominant · 2018
Where it sits
Other names
4 names
Resolves to: epiphyseal dysplasia, multiple, 3
- Also called
- COL9A3 multiple epiphyseal dysplasia (disease)epiphyseal dysplasia, multiple, 3, with or without myopathyepiphyseal dysplasia, multiple, type 3multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3