Camurati-Engelmann disease type 2
MONDO:0011690Mondo
Findings
No curated finding names Camurati-Engelmann disease type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder.
Definition from the Mondo Disease Ontology (MONDO:0011690), read 2026-09-29. CC BY 4.0.
Features
8 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.
- Delayed pubertyHPOHP:0000823
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- Hip contractureHPOHP:0003273
- Knee flexion contractureHPOHP:0006380
- Lower limb painHPOHP:0012514
- Muscle weaknessHPOHP:0001324
- Waddling gaitHPOHP:0002515
Where it sits
- A kind of
Other names
1 name
Resolves to: Camurati-Engelmann disease type 2
- Also called
- Camurati-Engelmann disease, type 2