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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"
Spondyloenchondrodysplasia
SPENCD · Spondyloenchondromatosis
Cheirospondyloenchondromatosis
Generalized enchondromatosis with platyspondyly · Enchondromatosis Spranger, type VI
Dysspondyloenchondromatosis
Genochondromatosis type 1
Genochondromatosis type 2
Maffucci syndrome
Multiple Enchondromatosis, Maffucci Type · Multiple Enchondromatosis type II
Metachondromatosis
Ollier disease
Multiple Enchondromatosis type I · Enchondromatosis Spranger type I