| Members |
languageDialectCode |
typeId |
value |
| Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Distal hereditary motor neuropathy Jerash type |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Familial multiple nevi flammei (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| microhidranencefalia asociada al gen NDE1 (trastorno) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Majeed syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Idiopathic panuveitis |
en |
adjudicación (atributo) |
Inserm Orphanet |
| White fibrous papulosis of neck |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Non-functioning paraganglioma |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal dominant spastic paraplegia type 12 (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal dominant spastic paraplegia type 19 |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal dominant spastic paraplegia type 31 (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal dominant spastic paraplegia type 37 (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal dominant spastic paraplegia type 41 (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal dominant spastic paraplegia type 42 |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal recessive spastic paraplegia type 15 |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal recessive spastic paraplegia type 21 |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal recessive spastic paraplegia type 28 |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal recessive spastic paraplegia type 35 |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal recessive spastic paraplegia type 43 (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal recessive spastic paraplegia type 45 (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal recessive spastic paraplegia type 48 (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal recessive spastic paraplegia type 5A |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal recessive spastic paraplegia type 62 |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal recessive spastic paraplegia type 67 (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal spastic paraplegia type 30 (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Progressive supranuclear palsy (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Idiopathic recurrent pericarditis (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Familial supernumerary nipple |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Bilateral polymicrogyria (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Juvenile polymyositis (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Acute generalized exanthematous pustulosis (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Striate palmoplantar keratoderma (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Punctate palmoplantar keratoderma type 2 (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Focal palmoplantar and gingival keratoderma |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Congenital cyst of larynx (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Dermoid cyst of face (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Dermoid cyst of neck (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Rhabdomyosarcoma of cervix uteri |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Rhabdomyosarcoma of corpus uteri (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Familial vesicoureteral reflux (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Invasive non-typhoidal salmonellosis (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Isolated congenital syngnathia (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Syndactyly type 6 |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Tibio-fibular synostosis |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Congenital deafness with labyrinthine aplasia, microtia and microdontia |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Angioosteohypotrophic syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal recessive cerebellar ataxia with late-onset spasticity |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Branchiootic syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Cerebrofacioarticular syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Constitutional mismatch repair deficiency syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Craniodigital syndrome and intellectual disability syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Craniofaciofrontodigital syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Balint syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Coffin-Lowry syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Crouzon syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Gitelman syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Grubben, De Cock, Borghgraef syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Holt-Oram syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Hoyeraal-Hreidarsson syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Keipert syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| King Denborough syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Laubry Pezzi syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Lichtenstein syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Neonatal Marfan syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Morvan syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Proteus syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Satoyoshi syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Stevens-Johnson syndrome, toxic epidermal necrolysis spectrum (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Stickler syndrome type 3 (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Verloove Vanhorick Brubakk syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Lethal congenital contracture syndrome type 5 |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Agenesis of corpus callosum and abnormal genitalia syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Constriction ring syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Harlequin syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Hypomyelination neuropathy arthrogryposis syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Ataxia pancytopenia syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Short stature, wormian bones, dextrocardia syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Curly hair, acral keratoderma, caries syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Carney complex, trismus, pseudocamptodactyly syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Benign infantile seizure with mild gastroenteritis syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Cryptorchidism, arachnodactyly, intellectual disability syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Ring chromosome 14 syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Ring chromosome 15 syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Ring chromosome 16 syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Ring chromosome 19 syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Ring chromosome 2 syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Ring chromosome 3 syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Ring chromosome 5 syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Ring chromosome 6 syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Ring chromosome 7 syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Ring chromosome Y syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome |
en |
adjudicación (atributo) |
Inserm Orphanet |
| Semicircular canal dehiscence syndrome (disorder) |
en |
adjudicación (atributo) |
Inserm Orphanet |