metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Findings
No curated finding names metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.
Definition from the Mondo Disease Ontology (MONDO:0013941), read 2026-09-29. CC BY 4.0.
Features
71 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.
- D-2-hydroxyglutaric aciduriaHPOHP:0012321
- Obligate (100% of cases)
- Abnormal bone ossificationHPOHP:0011849
- Very frequent (80% to 99% of cases)
- Metaphyseal enchondromatosisHPOHP:0005868
- Very frequent (80% to 99% of cases)
- Metaphyseal irregularityHPOHP:0003025
- Very frequent (80% to 99% of cases)
- Metaphyseal wideningHPOHP:0003016
- Very frequent (80% to 99% of cases)
- Multiple enchondromatosisHPOHP:0005701
- Very frequent (80% to 99% of cases)
Show the remaining 59
- Metaphyseal chondromatosis of radiusHPOHP:0030296
- Frequent (30% to 79% of cases)
- Metaphyseal chondromatosis of tibiaHPOHP:0030294
- Frequent (30% to 79% of cases)
- Metaphyseal chondromatosis of ulnaHPOHP:0030297
- Frequent (30% to 79% of cases)
- Metaphyseal cuppingHPOHP:0003021
- Frequent (30% to 79% of cases)
- PlatyspondylyHPOHP:0000926
- Frequent (30% to 79% of cases)
- Short phalanx of fingerHPOHP:0009803
- Frequent (30% to 79% of cases)
Where it sits
Other names
4 names
Resolves to: metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
- Also called
- MC-HGAmetaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduriametaphyseal enchondromatosis with D-2-hydroxyglutaric aciduriaspondyloenchondromatosis with D-2-hydroxyglutaric aciduria