Rare Disease Library

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

Brain inflammatory disease

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogenosis type II, infantile onset · Glycogen storage disease type II, infantile onset

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

Infantile CLN1 disease

Infantile neuronal ceroid lipofuscinosis type 1

Infantile CLN2 disease

Infantile neuronal ceroid lipofuscinosis type 2

Infantile inflammatory bowel disease with neurological involvement

Infantile multisystem neurologic-endocrine-pancreatic disease

IMNEPD

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

Rare inflammatory bowel disease