| Members |
languageDialectCode |
typeId |
value |
| Neurofibromatosis type 6 |
en |
Attribution |
Inserm Orphanet |
| Neurogenic arthrogryposis multiplex congenita (disorder) |
en |
Attribution |
Inserm Orphanet |
| Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) |
en |
Attribution |
Inserm Orphanet |
| Neurogenic scapuloperoneal syndrome Kaeser type (disorder) |
en |
Attribution |
Inserm Orphanet |
| Neurolymphomatosis |
en |
Attribution |
Inserm Orphanet |
| Neuronal ceroid lipofuscinosis type 1 (disorder) |
en |
Attribution |
Inserm Orphanet |
| Neuronal ceroid lipofuscinosis type 10 (disorder) |
en |
Attribution |
Inserm Orphanet |
| Neuronal ceroid lipofuscinosis type 11 |
en |
Attribution |
Inserm Orphanet |
| Neuronal ceroid lipofuscinosis type 13 |
en |
Attribution |
Inserm Orphanet |
| Neuronal ceroid lipofuscinosis type 2 |
en |
Attribution |
Inserm Orphanet |
| Neuronal ceroid lipofuscinosis type 3 |
en |
Attribution |
Inserm Orphanet |
| Neuronal ceroid lipofuscinosis type 4 |
en |
Attribution |
Inserm Orphanet |
| Neuronal ceroid lipofuscinosis type 5 |
en |
Attribution |
Inserm Orphanet |
| Neuronal ceroid lipofuscinosis type 6 (disorder) |
en |
Attribution |
Inserm Orphanet |
| Neuronal ceroid lipofuscinosis type 7 |
en |
Attribution |
Inserm Orphanet |
| Neuronal ceroid lipofuscinosis type 8 |
en |
Attribution |
Inserm Orphanet |
| Neuronal intranuclear inclusion disease (disorder) |
en |
Attribution |
Inserm Orphanet |
| Neutropenia, monocytopenia, deafness syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Neutrophil immunodeficiency syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Nevus epidermicus verrucosus with angiodysplasia and aneurysm syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| New-onset refractory status epilepticus |
en |
Attribution |
Inserm Orphanet |
| Night blindness, skeletal anomalies, dysmorphism syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Nijmegen breakage syndrome-like disorder (disorder) |
en |
Attribution |
Inserm Orphanet |
| Nodal T-follicular helper cell lymphoma follicular type (disorder) |
en |
Attribution |
Inserm Orphanet |
| Nodal marginal zone B-cell lymphoma (disorder) |
en |
Attribution |
Inserm Orphanet |
| Nodular lichen myxedematosus (disorder) |
en |
Attribution |
Inserm Orphanet |
| Nodular lymphoid hyperplasia of lung (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non syndromic camptodactyly of fingers (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non syndromic dextrocardia |
en |
Attribution |
Inserm Orphanet |
| Non-Wilsonian hepatic copper toxicosis of infancy and childhood (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-amyloid fibrillary glomerulonephritis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-amyloid monoclonal immunoglobulin deposition disease (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-distal monosomy 10q (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-distal monosomy 12q |
en |
Attribution |
Inserm Orphanet |
| Non-distal trisomy 10q |
en |
Attribution |
Inserm Orphanet |
| Non-distal trisomy 13q |
en |
Attribution |
Inserm Orphanet |
| Non-distal trisomy 9q |
en |
Attribution |
Inserm Orphanet |
| Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-functioning neuroendocrine neoplasm of pancreas (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-hypoproteinemic hypertrophic gastropathy |
en |
Attribution |
Inserm Orphanet |
| Non-progressive cerebellar ataxia with intellectual disability (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-recovering brachial plexus injury due to birth trauma (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-saccular limited dorsal myeloschisis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-specific syndromic intellectual disability |
en |
Attribution |
Inserm Orphanet |
| Non-syndromic bicoronal and metopic craniosynostosis |
en |
Attribution |
Inserm Orphanet |
| Non-syndromic bicoronal and sagittal craniosynostosis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-syndromic bilambdoid craniosynostosis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-syndromic congenital stenosis of esophagus |
en |
Attribution |
Inserm Orphanet |
| Non-syndromic genetic hearing loss |
en |
Attribution |
Inserm Orphanet |
| Non-syndromic metopic and sagittal craniosynostosis |
en |
Attribution |
Inserm Orphanet |
| Non-syndromic metopic craniosynostosis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-syndromic unicoronal and sagittal craniosynostosis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-syndromic unicoronal craniosynostosis |
en |
Attribution |
Inserm Orphanet |
| Non-syndromic unifrontosphenoidal craniosynostosis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-syndromic unilambdoid craniosynostosis |
en |
Attribution |
Inserm Orphanet |
| Non-syndromic unisquamosal craniosynostosis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Non-terminal myelocystocele (disorder) |
en |
Attribution |
Inserm Orphanet |
| Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia |
en |
Attribution |
Inserm Orphanet |
| Noonan syndrome-like disorder with loose anagen hair (disorder) |
en |
Attribution |
Inserm Orphanet |
| Nuclear protein in testis carcinoma (disorder) |
en |
Attribution |
Inserm Orphanet |
| O'Sullivan McLeod syndrome |
en |
Attribution |
Inserm Orphanet |
| OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Obesity due to SIM1 deficiency |
en |
Attribution |
Inserm Orphanet |
| Obesity due to CEP19 deficiency |
en |
Attribution |
Inserm Orphanet |
| Obesity due to leptin receptor gene deficiency |
en |
Attribution |
Inserm Orphanet |
| Obesity due to melanocortin 4 receptor deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
| Obesity due to prohormone convertase I deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
| Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Occipital pachygyria and polymicrogyria (disorder) |
en |
Attribution |
Inserm Orphanet |
| Occult macular dystrophy (disorder) |
en |
Attribution |
Inserm Orphanet |
| Ocular albinism with late-onset sensorineural deafness (disorder) |
en |
Attribution |
Inserm Orphanet |
| Ocular anomalies, axonal neuropathy, developmental delay syndrome |
en |
Attribution |
Inserm Orphanet |
| Oculo-auriculo-vertebral spectrum |
en |
Attribution |
Inserm Orphanet |
| Oculoauricular syndrome Schorderet type |
en |
Attribution |
Inserm Orphanet |
| Oculoauriculofrontonasal syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oculocerebrodental syndrome |
en |
Attribution |
Inserm Orphanet |
| Oculocerebrofacial syndrome Kaufman type (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oculocutaneous albinism type 1 (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oculocutaneous albinism type 4 (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oculocutaneous albinism type 5 (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oculocutaneous albinism type 6 (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oculocutaneous albinism type 7 (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oculocutaneous albinism type 8 (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oculogastrointestinal muscular dystrophy (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oculogastrointestinal neurodevelopmental syndrome |
en |
Attribution |
Inserm Orphanet |
| Oculomaxillofacial dysostosis (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oculoosteocutaneous syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oculootodental syndrome |
en |
Attribution |
Inserm Orphanet |
| Oculootoradial syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oculopalatocerebral syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oculopharyngodistal myopathy (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oculotrichodysplasia (disorder) |
en |
Attribution |
Inserm Orphanet |
| Odonto onycho dysplasia with alopecia syndrome |
en |
Attribution |
Inserm Orphanet |
| Odonto-tricho-ungual-digito-palmar syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Odontoma dysphagia syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Off-periods in Parkinson disease not responding to oral treatment |
en |
Attribution |
Inserm Orphanet |
| Ogden syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
| Oligocone trichromacy (disorder) |
en |
Attribution |
Inserm Orphanet |