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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"
Cleidorhizomelic syndrome
Rhizomelic shortness with clavicular defect · Wallis-Zieff-Goldblatt syndrome
Galactosialidosis
Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency
Hypospadias-intellectual disability, Goldblatt type syndrome
Goldblatt-Wallis syndrome
NPHP3-related Meckel-like syndrome
Goldston syndrome · Meckel syndrome type 7
Odontochondrodysplasia
Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia
Radial ray hypoplasia-choanal atresia syndrome
Goldblatt-Viljoen syndrome