Rare Disease Library

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

Familial normophosphatemic tumoral calcinosis

Familial omphalocele syndrome with facial dysmorphism

Familial or sporadic hemiplegic migraine

Familial ossifying fibroma

Multiple ossifying fibroma · Familial Gigantiform cementoma

Familial osteochondritis dissecans

Osteochondritis dissecans and short stature

Familial osteodysplasia, Anderson type

Familial pancreatic carcinoma

Familial pancreatic cancer

Familial papillary or follicular thyroid carcinoma

FNMTC · Familial pure nonmedullary thyroid carcinoma

Familial papillary thyroid carcinoma with renal papillary neoplasia

PTC-RCC

Familial paroxysmal ataxia

Episodic ataxia type 2

Familial partial epilepsy

Familial partial lipodystrophy, Dunnigan type

Dunnigan syndrome · FPLD2

Familial partial lipodystrophy, Köbberling type

FPLD1 · Familial partial lipodystrophy type 1

Familial patent arterial duct

Familial peripheral male-limited precocious puberty

FMPP · Familial gonadotropin-independent male-limited sexual precocity

Familial platelet disorder with associated myeloid malignancy

FPD/AML · FPS/AML