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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
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"
Stüve-Wiedemann syndrome
STWS · Stüve-Wiedemann dysplasia
Amniotic band syndrome
Congenital constriction ring syndrome · Congenital ring constrictions
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
Stüve-Wiedemann syndrome type 2 · AR CID due to complete GP130 deficiency