Rare Disease Library

Familial cavitary optic disc anomaly

Familial CODA

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

Benign hereditary chorea

BHC · Benign familial chorea

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Familial adenomatous polyposis

Colorectal adenomatous polyposis · FAP

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 cold urticaria

FCAS · FCU

Familial cortical myoclonus

Familial drusen

DHRD · Dominant drusen

Familial hemophagocytic lymphohistiocytosis

Familial HLH · Hemophagocytic lymphohistiocytosis

Familial infantile bilateral striatal necrosis

Familial IBSN · Familial infantile striatonigral degeneration

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

Hereditary breast cancer

Familial breast cancer · Familial breast carcinoma

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP

Inherited acute myeloid leukemia

Acute myeloid leukemia · AML

OBSOLETE: Familial cervical artery dissection

OBSOLETE: Familial CAD · OBSOLETE: Hereditary CAD

Paroxysmal extreme pain disorder

Familial rectal pain

Paroxysmal kinesigenic dyskinesia

Familial PKD · Familial paroxysmal kinesigenic dyskinesia

Susceptibility to respiratory infections associated with CD8alpha chain mutation

Familial CD8 deficiency