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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"
Thanatophoric dysplasia type 1
TD1 · Thanatophoric dwarfism type 1
Laron syndrome
Complete growth hormone insensitivity · GH receptor deficiency
Thanatophoric dysplasia
TD
Thanatophoric dysplasia type 2
Cloverleaf skull-micromelic bone dysplasia syndrome · TD2