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"

17 matching diseasesClear search ×

Kuskokwim syndrome

Kuskokwim disease · Arthrogryposis-like syndrome

ORPHA:1149

Alpha-N-acetylgalactosaminidase deficiency type 2

Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease

ORPHA:79280

Cap myopathy

Cap disease

ORPHA:171881

CLN13 disease

Kufs disease type B · Neuronal ceroid lipofuscinosis type 13

ORPHA:352709

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

ORPHA:1652

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

ORPHA:93616

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

ORPHA:3197

Kennedy disease

SBMA · X-linked BSMA

ORPHA:481

Kikuchi-Fujimoto disease

Histiocytic necrotizing lymphadenitis · Kikuchi disease

ORPHA:50918

Kimura disease

Eosinophilic lymphogranuloma

ORPHA:482

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

ORPHA:487

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

ORPHA:584

Multiple myeloma

Kahler disease · Medullary plasmacytoma

ORPHA:29073

Neuronal ceroid lipofuscinosis

NCL · NCL disease

ORPHA:216

Osteochondritis dissecans

König disease

ORPHA:2764

Osteochondrosis of the tarsal bone

Avascular necrosis of the tarsal bone · Kohler disease

ORPHA:563991

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

ORPHA:251375