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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"
NPHP3-related Meckel-like syndrome
Goldston syndrome · Meckel syndrome type 7
Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome
Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome
Renal-hepatic-pancreatic dysplasia
Ivemark II syndrome · Renohepaticopancreatic dysplasia
Senior-Loken syndrome
Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome
Ulbright-Hodes syndrome
Renal dysplasia-limb defects syndrome · Renal dysplasia-mesomelia-radiohumeral fusion syndrome