Rare Disease Library

Facial onset sensory and motor neuronopathy

FOSMN syndrome

Faciocardiorenal syndrome

Eastman-Bixler syndrome

Facioscapulohumeral dystrophy

Landouzy-Dejerine dystrophy · FSH dystrophy

Factor V Amsterdam bleeding disorder

FV Amsterdam bleeding disorder

Factor V Atlanta bleeding disorder

FV Atlanta bleeding disorder

Factor V short isoforms-related bleeding disorder

FV short isoforms-related bleeding disorder

FADD-related immunodeficiency

Faisalabad histiocytosis

FHC

Fallot complex-intellectual disability-growth delay syndrome

Bindewald-Ulmer-Müller syndrome

Familial abdominal aortic aneurysm

Familial acute necrotizing encephalopathy

ADANE · Recurrent acute necrotizing encephalopathy

Familial adenomatous polyposis

Colorectal adenomatous polyposis · FAP

Familial adrenal hypoplasia with absent pituitary luteinizing hormone

Familial adrenal hypoplasia with absent pituitary LH · Familial adrenal hypoplasia, miniature type

Familial adult myoclonic epilepsy

ADCME · Autosomal dominant cortical myoclonus and epilepsy

Familial advanced sleep-phase syndrome

FASPS

Familial afibrinogenemia

Familial Alzheimer-like prion disease

Familial anetoderma

Hereditary anetoderma · Hereditary macular atrophy

Familial angiolipomatosis

Familial aortic dissection

Annuloaortic ectasia · Cystic medial necrosis of aorta

Familial apolipoprotein A5 deficiency

Familial apolipoprotein A-V deficiency · Familial APOA5 deficiency

Familial apolipoprotein C-II deficiency

Familial apoC-II deficiency · Familial APOC2 deficiency

Familial articular hypermobility syndrome

Familial joint instability syndrome · Familial joint laxity

Familial atrial myxoma

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Familial avascular necrosis of femoral head

Familial osteonecrosis of the femoral head

Familial benign copper deficiency

Familial benign hypocupremia

Familial benign flecked retina

Familial bicuspid aortic valve

Familial BAV

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial caudal dysgenesis

Rudd-Klimek syndrome

Familial cavitary optic disc anomaly

Familial CODA

Familial cerebral cavernous malformation

Familial brain cavernous angioma · Familial cerebral cavernoma

Familial cerebral saccular aneurysm

Familial berry aneurysm · Familial intracranial saccular aneurysm

Familial Chilblain lupus

Familial chylomicronemia syndrome

Familial clubfoot due to 17q23.1q23.2 microduplication

Hereditary clubfoot due to 17q23.1-q23.2 microduplication

Familial clubfoot due to 5q31 microdeletion

Hereditary clubfoot due to 5q31 microdeletion

Familial clubfoot due to PITX1 point mutation

Hereditary clubfoot due to PITX1 point mutation

Familial clubfoot with or without associated lower limb anomalies

Familial cold urticaria

FCAS · FCU

Familial colorectal cancer Type X

FCCTX

Familial congenital mirror movements

Familial congenital controlateral synkinesia · Hereditary congenital controlateral synkinesia

Familial congenital nasolacrimal duct obstruction

Familial congenital palsy of trochlear nerve

Familial cortical myoclonus

Familial cutaneous collagenoma

Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome