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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"
MRCS syndrome
Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome
Cataract-microcornea syndrome
Cone rod dystrophy-short stature syndrome
Posterior corneal dystrophy
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
SMD-CRD