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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"
Bonnemann-Meinecke-Reich syndrome
Encephalopathy-intracerebral calcification-retinal degeneration syndrome
Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification · Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
Cataract-nephropathy-encephalopathy syndrome
Crome syndrome
Celiac disease-epilepsy-cerebral calcification syndrome
CEC
Infantile choroidocerebral calcification syndrome