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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"
Rubinstein-Taybi syndrome
Broad thumb-hallux syndrome · Broad thumbs-halluces syndrome
Infantile spasms-broad thumbs syndrome
Tsao-Ellingson syndrome
Isolated anterior cervical hypertrichosis
Hairy throat syndrome · Tsukahara-Kajii syndrome
Townes-Brocks syndrome
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome
Trigonocephaly-broad thumbs syndrome
Hunter-Rudd-Hoffmann syndrome