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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"
Crigler-Najjar syndrome type 1
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 · Bilirubin-UGT deficiency type 1
Adenine phosphoribosyltransferase deficiency
2,8-dihydroxyadenine urolithiasis · APRT deficiency
ALG1-CDG
CDG syndrome type Ik · CDG-Ik
ALG6-CDG
CDG syndrome type Ic · CDG-Ic
ALG8-CDG
CDG syndrome type Ih · CDG-Ih
Classic galactosemia
GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency
Crigler-Najjar syndrome
Bilirubin uridinediphosphate glucuronosyltransferase deficiency · Bilirubin-UGT deficiency
Crigler-Najjar syndrome type 2
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 · Bilirubin-UGT deficiency type 2
Galactose epimerase deficiency
Epimerase deficiency galactosemia · GALE deficiency