Rare Disease Library

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Fatal mitochondrial disease due to COXPD3

Fatal post-viral neurodegenerative disorder

FATCO syndrome

Hecht-Scott syndrome · Fibular aplasia-tibial campomelia-oligosyndactyly syndrome

Fatty acid hydroxylase-associated neurodegeneration

FAHN

Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy

Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy

Fatty acyl-CoA reductase 1 deficiency

PFCRD · FAR1 deficiency

FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

Febrile infection-related epilepsy syndrome

AERRPS · Acute encephalitis with refractory repetitive partial seizures

Fechtner syndrome

Alport syndrome with leukocyte inclusions and macrothrombocytopenia

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

Felty syndrome

Splenomegaly-neutropenia-rheumatoid arthritis syndrome

Female adnexal tumor of probable Wolffian origin

FATWO

Female infertility due to an implantation defect of genetic origin

Female infertility due to oocyte meiotic arrest

Female infertility due to zona pellucida defect

Female restricted epilepsy with intellectual disability

Juberg-Hellman syndrome · EFMR

Femoral-facial syndrome

FFS · FHUFS

Femur-fibula-ulna complex

FFU complex · Femur-fibula-ulna dysostosis

Ferro-cerebro-cutaneous syndrome

Cerebro-cutaneous syndrome with iron overload

Ferroportin disease

Fetal akinesia deformation sequence

Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome · FADS

Fetal akinesia-cerebral and retinal hemorrhage syndrome

Lethal congenital contracture syndrome type 5 · LCCS5

Fetal and neonatal alloimmune thrombocytopenia

FNAIT · NAIT

Fetal anticonvulsant syndrome

FACS · Fetal AEDS

Fetal carbamazepine syndrome

Fetal cytomegalovirus syndrome

Mother-to-child transmission of cytomegalovirus syndrome · Antenatal cytomegalovirus infection

Fetal encasement syndrome

Fetal Gaucher disease

Perinatal lethal Gaucher disease

Fetal hydantoin syndrome

Fetal dihydantoin syndrome · Phenytoin embryofetopathy

Fetal iodine syndrome

Fetal lower urinary tract obstruction

LUTO

Fetal lung interstitial tumor

FLIT · Immature interstitial mesenchymal tumor

Fetal methylmercury syndrome

Prenatal methylmercury poisoning · Congenital Minamata disease

Fetal minoxidil syndrome

Minoxidil antenatal exposure

Fetal parvovirus syndrome

Mother-to-child transmission of parvovirus syndrome · Parvovirus antenatal infection

Fetal trimethadione syndrome

Fetal valproate spectrum disorder

Fetal valproic acid syndrome · Valproic acid embryopathy

Fever-associated acute infantile liver failure syndrome

FG syndrome type 1

Opitz-Kaveggia syndrome

FGFR2-related bent bone dysplasia

Perinatal lethal bent bone dysplasia

FGFR3-related chondrodysplasia

Fibrillary astrocytoma

Fibro-adipose vascular anomaly

Fibroadipose vascular anomaly · Fibro-fatty vascular anomaly

Fibroblastic rheumatism

Fibrochondrogenesis