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"

10 matching diseasesClear search ×

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

SPLIS · Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency

ORPHA:506334

Addison disease

Primary Addison disease · Autoimmune adrenalitis

ORPHA:85138

Chronic primary adrenal insufficiency

CPAI · Chronic adrenocorticoid insufficiency

ORPHA:101959

Genetic chronic primary adrenal insufficiency

ORPHA:101960

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

ORPHA:656

Idiopathic steroid-resistant nephrotic syndrome

Idiopathic SRNS

ORPHA:567548

Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance

Idiopathic SSNS with secondary steroid resistance · Secondary steroid-resistant nephrotic syndrome

ORPHA:567546

Primary adrenal insufficiency

ORPHA:101958

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

Primary immunodeficiency syndrome due to P14 deficiency · Primary immunodeficiency syndrome due to LAMTOR2 deficiency

ORPHA:90023

Sporadic idiopathic steroid-resistant nephrotic syndrome

Sporadic idiopathic nephrosis

ORPHA:84271