Rare Disease Library

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

Familial tumoral calcinosis

Familial vesicoureteral reflux

Familial VUR

Familial visceral myopathy

Familial hollow visceral myopathy · Hereditary hollow visceral myopathy

Fanconi anemia

Fanconi pancytopenia

Fanconi syndrome-ichthyosis-dysmorphism syndrome

Deal-Barrat-Dillon syndrome

Fanconi-Bickel syndrome

GSD due to GLUT2 deficiency · Glycogenosis due to GLUT2 deficiency

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Fasciolopsiasis

Fast-flow vascular malformation

Rare arteriovenous malformation

FASTKD2-related infantile mitochondrial encephalomyopathy

Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

Fatal congenital hypertrophic cardiomyopathy due to GSD · Fatal congenital hypertrophic cardiomyopathy due to glycogenosis

Fatal familial insomnia

FFI

Fatal infantile cytochrome C oxidase deficiency

Fatal infantile COX deficiency · Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency

Fatal infantile encephalopathy-pulmonary hypertension syndrome

Fatal infantile hypertonic myofibrillar myopathy

Fatal infantile lactic acidosis with methylmalonic aciduria