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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"
Diaphyseal medullary stenosis-bone malignancy syndrome
Bone dysplasia-medullary fibrosarcoma syndrome · Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
Dentin dysplasia-sclerotic bones syndrome
Fibrous dysplasia of bone
Fibrous dysplasia/McCune-Albright syndrome
Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum
Thanatophoric dysplasia type 2
Cloverleaf skull-micromelic bone dysplasia syndrome · TD2