Rare Disease Library

Familial cylindromatosis

Turban tumor syndrome

Familial developmental dysphasia

Billard-Toutain-Maheut syndrome · FOXP2-associated dysphasia

Familial digital arthropathy-brachydactyly

Familial dilated cardiomyopathy

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

Familial drusen

DHRD · Dominant drusen

Familial dysautonomia

HSAN3 · Hereditary sensory and autonomic neuropathy type 3

Familial dysfibrinogenemia

Familial dyskinesia and facial myokymia

FDFM

Familial encephalopathy with neuroserpin inclusion bodies

FENIB

Familial episodic pain syndrome

FEPS

Familial episodic pain syndrome with predominantly lower limb involvement

Familial episodic pain syndrome with predominantly upper body involvement

Familial expansile osteolysis

Hereditary expansile polyostotic osteolytic dysplasia · McCabe disease

Familial exudative vitreoretinopathy

Criswick-Schepens syndrome · FEVR

Familial focal epilepsy with variable foci

FFEVF · Familial partial epilepsy with variable foci

Familial gastric type 1 neuroendocrine tumor

Familial generalized lentiginosis

Familial lentigines profusa · Familial multiple lentigines syndrome without systemic involvement

Familial gestational hyperthyroidism

Familial glucocorticoid deficiency

Familial GPIHBP1 deficiency

Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency

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 hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Familial hyperinsulinism

FHI · Familial hyperinsulinemic hypoglycemia

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

Hypercalcemic tumoral calcinosis

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 hypocalciuric hypercalcemia type 1

FHH type 1

Familial hypocalciuric hypercalcemia type 2

FHH type 2

Familial hypocalciuric hypercalcemia type 3

FHH type 3

Familial hypodysfibrinogenemia

Familial hypofibrinogenemia

Familial idiopathic dilatation of the right atrium

Familial infantile bilateral striatal necrosis

Familial IBSN · Familial infantile striatonigral degeneration

Familial infantile myoclonic epilepsy

FIME · Familial infantile myoclonus epilepsy

Familial intestinal malrotation

Familial intrahepatic cholestasis

Familial intraosseous vascular malformation

Hereditary intraosseous vascular malformation · VMOS

Familial isolated café-au-lait macules

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