Rare Disease Library

Fibrohistiocytic inflammatory pseudotumor of the liver

Fibrolamellar hepatocellular carcinoma

FHCC · Fibrolamellar hepatocarcinoma

Filamin-related bone disorder

Bone filaminopathy

Gelastic seizures with hypothalamic hamartoma

GS-HH · Hypothalamic hamartoma with gelastic seizures

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

Hypothalamic adipsic hypernatraemia syndrome

Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome

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

Juvenile idiopathic inflammatory myopathy

JIIM

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

COXPD12 · LTBL

Lymphoplasmacytic inflammatory pseudotumor of the liver

IgG4-related inflammatory pseudotumor of the liver

Methylcobalamin deficiency type cblDv1

Functional methionine synthase deficiency type cblDv1

Methylcobalamin deficiency type cblE

Functional methionine synthase deficiency type cblE

Methylcobalamin deficiency type cblG

Functional methionine synthase deficiency type cblG

Methylmalonic aciduria due to transcobalamin receptor defect

Methylmalonic acidemia, TCb1R type · Methylmalonic acidemia, TCbIR type

Mixed autoinflammatory and autoimmune syndrome

Multisystem inflammatory syndrome in children and adults

MIS-C/A

Muscle filaminopathy

FLNC-associated myofibrillar myopathy · Filamin C-related filaminopathy

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

Non-syndromic bilambdoid and sagittal craniosynostosis

Non-syndromic sagittal and bilateral lambdoid synostosis · Bilateral lambdoid and sagittal synostosis

Non-syndromic bilambdoid craniosynostosis

Isolated bilambdoid craniosynostosis · Non-syndromic bilateral lambdoid synostosis

Non-syndromic unilambdoid craniosynostosis

Isolated unilamboid craniosynostosis · Non-syndromic unilateral lambdoid synostosis

OBSOLETE: Catecholamine-producing tumor

OBSOLETE: Familial lambdoid synostosis

OBSOLETE: Infantile striatothalamic degeneration

OBSOLETE: Infantile symmetrical thalamic degeneration

OBSOLETE: Infantile thalamic degeneration

OBSOLETE: Inflammatory/autoimmune optic neuropathy

OBSOLETE: Laminopathy type Decaudain-Vigouroux

OBSOLETE: Laminopathy with severe metabolic syndrome and myopathy

OBSOLETE: Rare inflammatory eye disease

OBSOLETE:Immune dysregulation with inflammatory bowel disease