| Members |
languageDialectCode |
typeId |
value |
| Familial scaphocephaly syndrome McGillivray type (disorder) |
en |
Attribution |
Inserm Orphanet |
| Familial steroid-resistant nephrotic syndrome with adrenal insufficiency |
en |
Attribution |
Inserm Orphanet |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) |
en |
Attribution |
Inserm Orphanet |
| Familial supernumerary nipple |
en |
Attribution |
Inserm Orphanet |
| Familial temporal lobe epilepsy (disorder) |
en |
Attribution |
Inserm Orphanet |
| Familial thoracic aortic aneurysm and aortic dissection |
en |
Attribution |
Inserm Orphanet |
| Familial thrombocytosis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Familial thrombomodulin anomalies (disorder) |
en |
Attribution |
Inserm Orphanet |
| Familial thyroglossal duct cyst (disorder) |
en |
Attribution |
Inserm Orphanet |
| Familial thyroid dyshormonogenesis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Familial vesicoureteral reflux (disorder) |
en |
Attribution |
Inserm Orphanet |
| Arts syndrome |
en |
Attribution |
Inserm Orphanet |
| Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease |
en |
Attribution |
Inserm Orphanet |
| Fatal infantile cytochrome C oxidase deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
| Fatal infantile hypertonic myofibrillar myopathy (disorder) |
en |
Attribution |
Inserm Orphanet |
| Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) |
en |
Attribution |
Inserm Orphanet |
| Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder) |
en |
Attribution |
Inserm Orphanet |
| Fatal post-viral neurodegenerative disorder |
en |
Attribution |
Inserm Orphanet |
| Fatty acyl-coenzyme A reductase 1 deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
| Febrile infection-related epilepsy syndrome |
en |
Attribution |
Inserm Orphanet |
| Faecal incontinence following creation of ileo-anal pouch |
en |
Attribution |
Inserm Orphanet |
| Female infertility due to oocyte meiotic arrest |
en |
Attribution |
Inserm Orphanet |
| Female infertility due to zona pellucida defect (disorder) |
en |
Attribution |
Inserm Orphanet |
| Femur fibula ulna complex |
en |
Attribution |
Inserm Orphanet |
| FTH1-related iron overload |
en |
Attribution |
Inserm Orphanet |
| Ferro-cerebro-cutaneous syndrome |
en |
Attribution |
Inserm Orphanet |
| Ferroportin disease |
en |
Attribution |
Inserm Orphanet |
| Lethal congenital contracture syndrome type 5 |
en |
Attribution |
Inserm Orphanet |
| Fetal diethylstilbestrol syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Propylthiouracil embryofetopathy |
en |
Attribution |
Inserm Orphanet |
| Fetal encasement syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Fetal iodine syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Fetal parvovirus syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Fetal twin anemia-polycythemia sequence |
en |
Attribution |
Inserm Orphanet |
| Fetal varicella syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Fever-associated acute infantile liver failure syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) |
en |
Attribution |
Inserm Orphanet |
| Fibrochondrogenesis |
en |
Attribution |
Inserm Orphanet |
| Fibronectin glomerulopathy |
en |
Attribution |
Inserm Orphanet |
| Fibrosis, neurodegeneration, cerebral angiomatosis syndrome |
en |
Attribution |
Inserm Orphanet |
| Fibrothecoma of ovary |
en |
Attribution |
Inserm Orphanet |
| Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome |
en |
Attribution |
Inserm Orphanet |
| Fibular dimelia diplopodia syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome |
en |
Attribution |
Inserm Orphanet |
| Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| FLNA-related X-linked myxomatous valvular dysplasia |
en |
Attribution |
Inserm Orphanet |
| Filippi syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Fine Lubinsky syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Finnish upper limb onset distal myopathy |
en |
Attribution |
Inserm Orphanet |
| Fish-eye disease |
en |
Attribution |
Inserm Orphanet |
| Flat face, microstomia, ear anomaly syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Florid cemento-osseous dysplasia (disorder) |
en |
Attribution |
Inserm Orphanet |
| Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Focal facial dermal dysplasia (disorder) |
en |
Attribution |
Inserm Orphanet |
| Focal palmoplantar and gingival keratoderma |
en |
Attribution |
Inserm Orphanet |
| Focal palmoplantar keratoderma with joint keratoses (disorder) |
en |
Attribution |
Inserm Orphanet |
| Foix Chavany Marie syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Folinic acid responsive developmental and epileptic encephalopathy (disorder) |
en |
Attribution |
Inserm Orphanet |
| Follicular cholangitis and pancreatitis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Foveal hypoplasia with presenile cataract syndrome |
en |
Attribution |
Inserm Orphanet |
| Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Fragile X associated primary ovarian insufficiency |
en |
Attribution |
Inserm Orphanet |
| Frank-Ter Haar syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Freeman-Sheldon syndrome |
en |
Attribution |
Inserm Orphanet |
| Fried syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Frontal fibrosing alopecia (disorder) |
en |
Attribution |
Inserm Orphanet |
| Frontofacionasal dysplasia syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome |
en |
Attribution |
Inserm Orphanet |
| Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Frontorhiny (disorder) |
en |
Attribution |
Inserm Orphanet |
| Fryns Smeets Thiry syndrome |
en |
Attribution |
Inserm Orphanet |
| Fucosidosis |
en |
Attribution |
Inserm Orphanet |
| Fuhrmann syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Full schwannomatosis |
en |
Attribution |
Inserm Orphanet |
| Fundus albipunctatus |
en |
Attribution |
Inserm Orphanet |
| Fundus pulverulentus (disorder) |
en |
Attribution |
Inserm Orphanet |
| Furuncular myiasis (disorder) |
en |
Attribution |
Inserm Orphanet |
| G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) |
en |
Attribution |
Inserm Orphanet |
| GNB5-related intellectual disability, cardiac arrhythmia syndrome |
en |
Attribution |
Inserm Orphanet |
| Gabriele-de Vries syndrome |
en |
Attribution |
Inserm Orphanet |
| Galloway Mowat syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Gangliocytoma of central nervous system (disorder) |
en |
Attribution |
Inserm Orphanet |
| Ganglioside GM3 synthase deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
| GJC2-related late-onset primary lymphedema |
en |
Attribution |
Inserm Orphanet |
| Gastric adenocarcinoma and proximal polyposis of stomach (disorder) |
en |
Attribution |
Inserm Orphanet |
| Gastrocutaneous syndrome |
en |
Attribution |
Inserm Orphanet |
| Gelastic seizures with hypothalamic hamartoma (disorder) |
en |
Attribution |
Inserm Orphanet |
| Gemignani syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Generalized basaloid follicular hamartoma syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Generalized epilepsy and paroxysmal dyskinesia syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Generalized peeling skin syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Genetic hyperferritinemia without iron overload |
en |
Attribution |
Inserm Orphanet |
| Genetic non-syndromic childhood obesity (disorder) |
en |
Attribution |
Inserm Orphanet |
| Genetic recurrent myoglobinuria (disorder) |
en |
Attribution |
Inserm Orphanet |
| Genetic steroid-resistant nephrotic syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Genetic transient congenital hypothyroidism (disorder) |
en |
Attribution |
Inserm Orphanet |
| Genitopalatocardiac syndrome |
en |
Attribution |
Inserm Orphanet |
| Genochondromatosis type 2 (disorder) |
en |
Attribution |
Inserm Orphanet |
| German syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |