Rare Disease Library

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

Familial porencephaly

Familial porphyria cutanea tarda

Porphyria cutanea tarda type II

Familial primary hyperparathyroidism

Familial primary localized cutaneous amyloidosis

FPLCA

Familial progressive hyper- and hypopigmentation

FPHH

Familial progressive hyperpigmentation

Melanosis diffusa congenita · Melanosis universalis hereditaria

Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome

Familial progressive vestibulocochlear dysfunction

Familial prostate cancer

Familial pseudohyperkalemia

Familial pseudohyperkalemia type 1

Familial pterygium of the conjunctiva

Familial reactive perforating collagenosis

Familial recurrent peripheral facial palsy

Familial recurrent Bell palsy

Familial renal glucosuria

Familial renal glycosuria · SGLT2 deficiency

Familial restrictive cardiomyopathy

Familial retinal arterial macroaneurysm

FRAM · Retinal arterial macroaneurysm and supravalvular pulmonic stenosis

Familial scaphocephaly syndrome

Familial scaphocephaly syndrome, McGillivray type

Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

Familial schizencephaly

Familial sinus histiocytosis with massive lymphadenopathy

Familial Rosaï-Dorfman disease · Familial SHML

Familial spontaneous pneumothorax

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

SPLIS · Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss

Familial supernumerary nipples

Isolated polythelia

Familial syringomyelia

Familial temporal lobe epilepsy

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

Familial thrombocytosis

Familial thrombocythemia · Hereditary thrombocythemia

Familial thrombomodulin anomalies

Familial thyroglossal duct cyst

Familial thyroid dyshormonogenesis

Thyroid dyshormonogenesis