Rare Disease Library

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"

6 matching diseasesClear search ×

Kosaki overgrowth syndrome

Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome

ORPHA:477831

Kostmann syndrome

Infantile agranulocytosis · Severe congenital neutropenia type 3

ORPHA:99749

Kagami-Ogata syndrome

KOS

ORPHA:254519

Arachnodactyly-abnormal ossification-intellectual disability syndrome

Kosztolanyi syndrome

ORPHA:1129

Pelvis-shoulder dysplasia

Kosenow syndrome · Scapuloiliac dysostosis

ORPHA:2839

Takenouchi-Kosaki syndrome

Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

ORPHA:487796