Rare Disease Library

Paroxysmal extreme pain disorder

Familial rectal pain

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Familial bicuspid aortic valve

Familial BAV

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial cavitary optic disc anomaly

Familial CODA

Familial episodic pain syndrome

FEPS

Familial hemophagocytic lymphohistiocytosis

Familial HLH · Hemophagocytic lymphohistiocytosis

Familial infantile bilateral striatal necrosis

Familial IBSN · Familial infantile striatonigral degeneration

Familial multinodular goiter

Familial multinodular goiter syndrome · FMNG

Familial recurrent peripheral facial palsy

Familial recurrent Bell palsy

Familial sinus histiocytosis with massive lymphadenopathy

Familial Rosaï-Dorfman disease · Familial SHML

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

Familial vesicoureteral reflux

Familial VUR

Inherited acute myeloid leukemia

Acute myeloid leukemia · AML

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

Paroxysmal kinesigenic dyskinesia

Familial PKD · Familial paroxysmal kinesigenic dyskinesia