Rare Disease Library

Rare tumor

Rare neoplasm

Rare tumor of gallbladder and extrahepatic biliary tract

Rare tumor of gallbladder and EBT

Rare tumor of intestine

Rare intestinal tumor · Rare tumor of bowel

Rare tumor of liver and intrahepatic biliary tract

Rare tumor of liver and IBT

Rare tumor of neuroepithelial tissue

Rare tumor of pancreas

Rare pancreatic tumor

Rare tumor of salivary glands

Rare tumor of small intestine

Rare tumor of small bowel

Rare urinary tract tumor

Rare urinary tract cancer · Rare urinary tract neoplasm

Rare urogenital disease

Rare urogenital tumor

Rare urticaria

Rare uterine adnexal tumor

Rare uterine cancer

Rare cancer of uterus · Rare malignant tumor of uterus

Rare vaginal malformation

Rare vascular anomaly

Rare vascular disease

Rare vascular liver disease

Rare vascular malformation of major vessels

Rare vascular tumor

Rare viral disease

Rare virus associated tumor

Rare vulvovaginal tumor

Rare X-linked non-syndromic sensorineural deafness type DFN

X-linked isolated neurosensory deafness type DFN · X-linked isolated neurosensory hearing loss type DFN

Rare yersiniosis

RARS-related autosomal recessive hypomyelinating leukodystrophy

RAS-associated autoimmune leukoproliferative disease

RALD

Rasmussen subacute encephalitis

Rasmussen syndrome

RASopathy

Rat-bite fever

Rauch-Steindl syndrome

NSD2-related syndrome

Ravine syndrome

Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome

Reactive angioendotheliomatosis

RA · Cutaneous reactive dermatoses

Reactive arthritis

Fiessinger-Leroy disease

Recessive dystrophic epidermolysis bullosa inversa

RDEB inversa · RDEB-I

Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

IDMDC

Recessive KLHL7-related disorder

Recessive mitochondrial ataxia syndrome

MIRAS

Recessive X-linked ichthyosis

RXLI · Steroid sulfatase deficiency

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

Recurrent hepatitis C virus induced liver disease in liver transplant recipients

Recurrent idiopathic neuroretinitis

RINR

Recurrent infections associated with rare immunoglobulin isotypes deficiency

IgG subclass deficiency with IgA subclass deficiency · Isolated IgG subclass deficiency

Recurrent infections due to specific granule deficiency

Neutrophil-specific granule deficiency

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

TANGO2-related metabolic encephalopathy-arrhythmia syndrome

Recurrent Neisseria infections due to factor D deficiency

Recurrent respiratory papillomatosis

Reducing body myopathy