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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"
Classic pantothenate kinase-associated neurodegeneration
NBIA1, classic form · Neurodegeneration with brain iron accumulation type 1, classic form
Atypical pantothenate kinase-associated neurodegeneration
NBIA1, atypical form · Neurodegeneration with brain iron accumulation type 1, atypical form
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Classic CLAH
Infantile Krabbe disease
Krabbe disease, classic form · Krabbe disease, early-onset