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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"
Karsch-Neugebauer syndrome
Split hand/split foot-nystagmus syndrome
Acro-renal-mandibular syndrome
Split hand/split foot-mandibular hypoplasia syndrome
Hand-foot-genital syndrome
HFGS · Hand-foot-uterus syndrome
Heart-hand syndrome
Atriodigital dysplasia
Primary biliary cholangitis
Hanot syndrome · Primary biliary cirrhosis
Split hand-split foot-deafness syndrome
Split hand-split foot-hearing loss syndrome
Ulnar hypoplasia-split foot syndrome
Ulnar hypoplasia-lobster-claw deformity of feet syndrome · Van den Berghe-Dequecker syndrome