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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"
Kosaki overgrowth syndrome
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Kostmann syndrome
Infantile agranulocytosis · Severe congenital neutropenia type 3
Kagami-Ogata syndrome
KOS
Arachnodactyly-abnormal ossification-intellectual disability syndrome
Kosztolanyi syndrome
Pelvis-shoulder dysplasia
Kosenow syndrome · Scapuloiliac dysostosis
Takenouchi-Kosaki syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome