Rare Disease Library

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP

Aromatase excess syndrome

AEXS · Familial hyperestrogenism

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Familial benign copper deficiency

Familial benign hypocupremia

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 gestational hyperthyroidism

Familial hemophagocytic lymphohistiocytosis

Familial HLH · Hemophagocytic lymphohistiocytosis

Familial hyperaldosteronism

FH

Familial hyperaldosteronism type I

Dexamethasone-sensitive hypertension · FH-I

Familial hyperaldosteronism type II

FH-II · FH2

Familial hyperaldosteronism type III

FH-III · FH3

Familial hyperaldosteronism type IV

FH4

Familial Hyperalphalipoproteinemia

Familial hypercholanemia

Hereditary hypercholanemia

Familial hyperinsulinism

FHI · Familial hyperinsulinemic hypoglycemia

Familial hyperprolactinemia

Familial isolated prolactin receptor deficiency

Familial hyperthyroidism due to mutations in TSH receptor

Familial non-immune hyperthyroidism · Resistance to thyroid stimulating hormone

Familial hypoaldosteronism

Familial hypocalciuric hypercalcemia

FBH · FBHH

Familial hypofibrinogenemia

Familial infantile bilateral striatal necrosis

Familial IBSN · Familial infantile striatonigral degeneration

Familial isolated hyperparathyroidism

FIHPT

Familial multinodular goiter

Familial multinodular goiter syndrome · FMNG

Familial primary hyperparathyroidism

Familial progressive hyperpigmentation

Melanosis diffusa congenita · Melanosis universalis hereditaria

Familial pseudohyperkalemia

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 renal hypouricemia

Familial renal hypouricemia

Inherited acute myeloid leukemia

Acute myeloid leukemia · AML

Paroxysmal kinesigenic dyskinesia

Familial PKD · Familial paroxysmal kinesigenic dyskinesia

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension