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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"
ADULT syndrome
Acro-dermato-ungual-lacrimal-tooth syndrome · Pigment anomaly-ectrodactyly-hypodontia syndrome
Ectrodactyly-cleft palate syndrome
ECP syndrome
Ectrodactyly-polydactyly syndrome
Fibular aplasia-ectrodactyly syndrome
Hypoglossia-hypodactyly syndrome
Aglossia-adactylia syndrome · Hanhart syndrome
Lewis-Pashayan syndrome
Cleft lip/palate-ectrodactyly syndrome
Tibial aplasia-ectrodactyly syndrome
Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome