fibrochondrogenesis 2
MONDO:0013795Mondo
Findings
No curated finding names fibrochondrogenesis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013795), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
18 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.
- Anteverted naresHPOHP:0000463
- 2 of 2 reported patients
- Bell-shaped thoraxHPOHP:0001591
- 2 of 2 reported patients
- Cupped ribsHPOHP:0000887
- 2 of 2 reported patients
- Frontal bossingHPOHP:0002007
- 2 of 2 reported patients
- Hypoplastic iliaHPOHP:0000946
- 2 of 2 reported patients
- Hypoplastic ischiaHPOHP:0003175
- 2 of 2 reported patients
- Hypoplastic pubic boneHPOHP:0003173
Show the remaining 6
- Short long boneHPOHP:0003026
- 2 of 2 reported patients
- Short noseHPOHP:0003196
- 2 of 2 reported patients
- Short ribsHPOHP:0000773
- 2 of 2 reported patients
- Thoracic hypoplasiaHPOHP:0005257
- 2 of 2 reported patients
- Metaphyseal cuppingHPOHP:0003021
- 1 of 2 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 2 reported patients
Where it sits
- A kind of
Other names
3 names
Resolves to: fibrochondrogenesis 2
- Also called
- COL11A2 fibrochondrogenesisfibrochondrogenesis caused by mutation in COL11A2fibrochondrogenesis type 2