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metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0013941: metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614875
Orphanet:99646
UMLS:C3553958
MONDO:0013941
High level summary of knowledge for a disease, including descriptions and datasource references.