Rare Disease Library

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

Familial isolated clinodactyly of fingers

Familial isolated congenital asplenia

Familial isolated dilated cardiomyopathy

Familial or idiopathic dilated cardiomyopathy

Familial isolated hyperparathyroidism

FIHPT

Familial isolated hypoparathyroidism

Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

Familial isolated hypoparathyroidism due to impaired PTH secretion

Familial isolated pituitary adenoma

FIPA

Familial isolated restrictive cardiomyopathy

Familial or idiopathic restrictive cardiomyopathy

Familial isolated retinal arteriolar tortuosity

Retinal arteriolar tortuosity · Retinal hemorrhage with vascular tortuosity

Familial isolated trichomegaly

Familial juvenile hypertrophy of the breast

Familial juvenile gigantomastia · Virginal breast hypertrophy

Familial keratoacanthoma

Hereditary keratoacanthoma · Multiple keratoacanthoma

Familial LCAT deficiency

Complete LCAT deficiency · FLD

Familial lipase maturation factor 1 deficiency

Familial LMF1 deficiency

Familial lipoprotein lipase deficiency

LPL deficiency

Familial median cleft of the upper and lower lips

Familial Mediterranean fever

Benign paroxysmal peritonitis · Benign recurrent polyserositis

Familial melanoma

Familial mesial temporal lobe epilepsy

FLTLE

Familial mesial temporal lobe epilepsy with febrile seizures

Familial mitral valve prolapse

Familial monosomy 7 syndrome

Familial multinodular goiter

Familial multinodular goiter syndrome · FMNG

Familial multiple discoid fibromas

Familial multiple trichodiscomas

Familial multiple fibrofolliculoma

Familial multiple lipomatosis

Familial multiple meningioma

Familial multiple nevi flammei

Familial multiple port-wine stains

Familial multiple trichoepithelioma

Familial nasal acilia

Familial nonmedullary thyroid carcinoma