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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"
Atelosteogenesis type II
Atelosteogenesis type 2 · De la Chapelle dysplasia
46,XX testicular difference of sex development
46,XX testicular DSD · De la Chapelle syndrome
Caudal regression syndrome
Caudal dysgenesis syndrome · Caudal dysplasia
Dentin dysplasia
DD
Greenberg dysplasia
Hydrops-ectopic calcification-motheaten syndrome · Skeletal dysplasia, Greenberg type