epiphyseal dysplasia, multiple, 2
Findings
No curated finding names epiphyseal dysplasia, multiple, 2 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 COL9A2 gene.
Definition from the Mondo Disease Ontology (MONDO:0010844), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
20 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.
- Epiphyseal dysplasiaHPOHP:0002656
- 4 of 4 reported patients
- Knee painHPOHP:0030839
- 3 of 4 reported patients
- FatigueHPOHP:0012378
- 2 of 4 reported patients
- Broad-based gaitHPOHP:0002136
- 1 of 4 reported patients
- Foot painHPOHP:0025238
- 1 of 4 reported patients
- Frontal bossingHPOHP:0002007
- 1 of 4 reported patients
- Genu varumHPOHP:0002970
Show the remaining 8
- Flattened epiphysisHPOHP:0003071
- Flattened knee epiphysesHPOHP:0005715
- Irregular epiphysesHPOHP:0010582
- Knee osteoarthritisHPOHP:0005086
- Mild short statureHPOHP:0003502
- Short palmHPOHP:0004279
- Small epiphysesHPOHP:0010585
- Waddling gaitHPOHP:0002515
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.
- COL9A2HGNC:2218
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
Where it sits
Other names
3 names
Resolves to: epiphyseal dysplasia, multiple, 2
- Also called
- COL9A2 multiple epiphyseal dysplasia (disease)epiphyseal dysplasia, multiple, type 2multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2