Rare Disease Library

Familial infantile bilateral striatal necrosis

Familial IBSN · Familial infantile striatonigral degeneration

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Familial anetoderma

Hereditary anetoderma · Hereditary macular atrophy

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 drusen

DHRD · Dominant drusen

Familial hemophagocytic lymphohistiocytosis

Familial HLH · Hemophagocytic lymphohistiocytosis

Familial isolated café-au-lait macules

Familial isolated CALSs · Multiple isolated café-au-lait spots

Familial melanoma

Familial multinodular goiter

Familial multinodular goiter syndrome · FMNG

Familial nasal acilia

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

Fatal familial insomnia

FFI

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP

Infantile bilateral striatal necrosis

IBSN · Infantile striatonigral degeneration

Inherited acute myeloid leukemia

Acute myeloid leukemia · AML

Isolated familial medullary thyroid carcinoma

Hereditary isolated MTC · Isolated familial MTC

Paroxysmal extreme pain disorder

Familial rectal pain

Paroxysmal kinesigenic dyskinesia

Familial PKD · Familial paroxysmal kinesigenic dyskinesia