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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"
Krabbe disease
GALC deficiency · Galactocerebrosidase deficiency
4H leukodystrophy
POLR-related leukodystrophy
Dermatoleukodystrophy
Cutis laxa-leukodystrophy
Leukodystrophy
Metachromatic leukodystrophy
Arylsulfatase A deficiency · MLD
Odontoleukodystrophy
Dentoleukoencephalopathy · Leukodystrophy with oligodontia
Ovarioleukodystrophy