metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
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:0019708
obsolete primary bone dysplasia with disorganized development of skeletal components (obsolete MONDO:0019708)
excluded_subClassOf
MONDO:0003847
hereditary disease
is_a
MONDO:0005172
skeletal system disorder
is_a
MC-HGA
exact
metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
exact
metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria
exact
metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria
exact
spondyloenchondromatosis with D-2-hydroxyglutaric aciduria
exact