All patient-facing tools are free · No login required to browse
All access tools are free for patients and caregivers
All community tools are free for patients and caregivers
7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
D,L-2-hydroxyglutaric aciduria
Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia · Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
2-hydroxyglutaric aciduria
2-hydroxyglutaric acidemia
Combined malonic and methylmalonic acidemia
CMAMMA · Combined malonic and methylmalonic aciduria
D-2-hydroxyglutaric aciduria
D-2-HGA · D-2-hydroxyglutaric acidemia
L-2-hydroxyglutaric aciduria
L-2-HGA · L-2-hydroxyglutaric acidemia
Multiple acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2 · Glutaric aciduria type 2