Rare Disease Library

OBSOLETE: Familial flecked retinopathy

OBSOLETE: Hereditary flecked retinopathy

OBSOLETE: Inflammatory/autoimmune optic neuropathy

OBSOLETE: Rare inflammatory eye disease

OBSOLETE:Immune dysregulation with inflammatory bowel disease

Periodic fever-infantile enterocolitis-autoinflammatory syndrome

NLRC4-related autoinflammatory syndrome with MAS · NLRC4-related MAS

Peripheral fast-flow vascular malformation

Peripheral arteriovenous malformation

Phakomatosis cesioflammea

Phakomatosis pigmentovascularis type 2

Progressive non-fluent aphasia

Agramatic variant of PPA · Agramatic variant of primary progressive aphasia

Progressive supranuclear palsy-progressive non-fluent aphasia syndrome

PSP-AOS · PSP-PNFA

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Pyogenic autoinflammatory syndrome

Pyogenic autoinflammatory syndrome of childhood

Rare genetic inflammatory/autoimmune corneal disorder

Rare hereditary autoinflammatory disease

Rare inflammatory bowel disease

Rare inflammatory/autoimmune corneal disorder

Rare neuroinflammatory or neuroimmunological disease

Reflex epilepsy

Riboflavin transporter deficiency

Brown-Vialetto-van Laere syndrome

SAMD9L-associated autoinflammatory syndrome

SAMD9L-SAAD

Slow-flow malformation, lymphatic type

Slow-flow malformation, venous type

Rare venous malformation

Snowflake vitreoretinal degeneration

STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome

Subacute inflammatory demyelinating polyneuropathy

Subacute inflammatory demyelinating polyradiculoneuropathy

Systemic inflammatory disease associated with an acquired peripheral neuropathy

TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome

Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome · INFLTR8

TRIM22-related inflammatory bowel disease

TRIM22-related IBD

Unclassified autoinflammatory syndrome

Unclassified autoinflammatory syndrome of childhood

Unexplained long-lasting fever/inflammatory syndrome

Persistent fever/inflammation of unknown origin

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