Rare Disease Library

Congenital primary megaureter, refluxing and obstructed form

Congenital primary megaureter, refluxing form

Diffuse large B-cell lymphoma with chronic inflammation

Diffuse large B-cell lymphoma · DLBCL

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

Early-onset autoinflammatory syndrome due to A20 haploinsufficiency

Early-onset AID due to HA20 · Early-onset autoinflammatory disorder due to HA20

Early-onset cerebellar ataxia with retained tendon reflexes

EOCA · EOCARR

Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

EMARDD

Eating reflex epilepsy

Eating epilepsy · Eating seizures

F12-associated cold autoinflammatory syndrome

FACAS

Familial benign flecked retina

Familial hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Familial multiple nevi flammei

Familial multiple port-wine stains

Familial vesicoureteral reflux

Familial VUR

Fast-flow vascular malformation

Rare arteriovenous malformation

Fibrohistiocytic inflammatory pseudotumor of the liver

Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa

Genetic autoinflammatory syndrome with skin involvement

Genetic inflammatory or rheumatoid-like osteoarthropathy

Granulomatous autoinflammatory syndrome

Granulomatous autoinflammatory syndrome of childhood

Hot water reflex epilepsy

HWE

Idiopathic neonatal atrial flutter

IL21-related infantile inflammatory bowel disease

IL21-related infantile IBD

Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome

NFAT5 haploinsufficiency

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

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

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

Infantile inflammatory bowel disease with neurological involvement

Inflammatory and autoimmune disease with epilepsy

Inflammatory linear verrucous epidermal nevus

ILVEN

Inflammatory myofibroblastic tumor

Inflammatory myopathy with abundant macrophages

IMAM

Inflammatory pseudotumor of the liver

Inflammatory/autoimmune disorder involving the lacrimal system

Intramuscular fast-flow vascular anomaly

Juvenile idiopathic inflammatory myopathy

JIIM

Kandori fleck retina

Loeffler endocarditis

Eosinophilic endocarditis

Low-flow priapism

Lymphoplasmacytic inflammatory pseudotumor of the liver

IgG4-related inflammatory pseudotumor of the liver

Male infertility due to large-headed multiflagellar polyploid spermatozoa

Male infertility due to macrozoospermia · Macrocephalic sperm head syndrome

Maternal riboflavin deficiency

Mixed autoinflammatory and autoimmune syndrome

Multifocal pattern dystrophy simulating fundus flavimaculatus

Multifocal pattern dystrophy simulating Stargardt disease

Multisystem inflammatory syndrome in children and adults

MIS-C/A

NEMO deleted exon 5 autoinflammatory syndrome

NDAS · NEMO-NDAS

Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

Non-inflammatory vasculopathy