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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"
Tibial aplasia-ectrodactyly syndrome
Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome
Isolated split hand-split foot malformation
Ectrodactyly · SHFM
OBSOLETE: Split hand or/and split foot malformation