Rare Disease Library

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

ALPI-related inflammatory bowel disease

Brain inflammatory disease

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency · SOCS1-related autoinflammatory syndrome

F12-associated cold autoinflammatory syndrome

FACAS

Familial hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Fontan-associated liver disease

FALD

Hyperzincemia and hypercalprotectinemia

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome · PAMI syndrome

IgG4-related disease

IgG4-related sclerosing disease · Immunoglobulin G4-related sclerosing disease

IL21-related infantile inflammatory bowel disease

IL21-related infantile IBD

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

IL10-related early-onset IBD · IL10-related early-onset inflammatory bowel disease

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

OBSOLETE: Rare inflammatory eye disease

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Pulmonary arterial hypertension associated with another disease

PAH · PAH associated with another disease

Rare hereditary autoinflammatory disease

Rare inflammatory bowel disease

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2

SAMD9L-associated autoinflammatory syndrome

SAMD9L-SAAD

Systemic inflammatory disease associated with an acquired peripheral neuropathy

TRIM22-related inflammatory bowel disease

TRIM22-related IBD

X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency

DEX · X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency