Rare Disease Library

Autoimmune polyendocrinopathy

APS · Autoimmune polyglandular syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autoimmune polyendocrinopathy type 2

APS type 2 · APS2

Autoimmune polyendocrinopathy type 3

APS type 3 · APS3

Autoimmune polyendocrinopathy type 4

APS type 4 · APS4

Chronic relapsing inflammatory optic neuritis

CRION

Congenital peritoneal encapsulation

CPE · Peritoneal encapsulation syndrome

Early-onset posterior subcapsular cataract

Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome

MN1 C-terminal truncation syndrome · MCTT

Familial mitral valve prolapse

Hypogonadism-mitral valve prolapse-intellectual disability syndrome

Cantalamessa-Baldini-Ambrosi syndrome

OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy

OBSOLETE: Tricuspid valve prolapse

Relapsing epidemic typhus

Relapsing fever

Relapsing isolated optic neuritis

RION · Isolated relapsing optic neuropathy

Relapsing polychondritis

Polychondropathia

Rhombencephalosynapsis

Spondyloepimetaphyseal dysplasia, PAPSS2 type

Spondyloepimetaphyseal dysplasia, Pakistani type