Rare Disease Library

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Facial cleft

Craniofacial cleft

Facial dermoid cyst

Dermoid cyst of the face

Facial diplegia with paresthesias

Facial diplegia with paresthesias variant of Guillain-Barré syndrome · Facial diplegia with paresthesias variant of GBS

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy

WWOX-related epileptic encephalopathy

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion · 10p12p11 microdeletion syndrome

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

Desanto-Shinawi syndrome due to WAC point mutation

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome

FHEIG syndrome

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome

MN1 C-terminal truncation syndrome · MCTT

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

FDLAB syndrome · Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Hamamy syndrome

Facial dysmorphism-shawl scrotum-joint laxity syndrome

Seaver-Cassidy syndrome

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