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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"
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
FHHNC with severe ocular involvement · Hypercalciuria-bilateral macular coloboma syndrome
Deafness-lymphedema-leukemia syndrome
Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome
Ear-patella-short stature syndrome
Meier-Gorlin syndrome
Progressive hemifacial atrophy
Hemifacial atrophy · PHA