Rare Disease Library

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"

2 matching diseasesClear search ×

Thanatophoric dysplasia type 1

TD1 · Thanatophoric dwarfism type 1

ORPHA:1860

Thanatophoric dysplasia

TD

ORPHA:2655