epiphyseal dysplasia, multiple, 6
Findings
No curated finding names epiphyseal dysplasia, multiple, 6 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 COL9A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013591), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
12 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.
- Intervertebral disk calcificationHPOHP:0005645
- 1 of 1 reported patient
- Knee painHPOHP:0030839
- 2 of 2 reported patients
- Multiple epiphyseal dysplasiaHPOHP:0002654
- 2 of 2 reported patients
- OsteoarthritisHPOHP:0002758
- 2 of 2 reported patients · Juvenile onset
- Schmorl's nodeHPOHP:0030041
- 1 of 2 reported patients
- ArthralgiaHPOHP:0002829
- Flat capital femoral epiphysisHPOHP:0003370
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.
- COL9A1HGNC:2217
- Definitive · G2P · Autosomal dominant · 2023
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
Other names
3 names
Resolves to: epiphyseal dysplasia, multiple, 6
- Also called
- COL9A1 multiple epiphyseal dysplasia (disease)epiphyseal dysplasia, multiple, type 6multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1