orphafolder

| 2673 | Neurofaciodigitorenal syndrome
| 2672 | Neuhauser-Eichner-Opitz syndrome
| 2679 | Infantile axonal neuropathy
| 254857 | Lethal infantile mitochondrial myopathy
| 2678 | Neurofibromatosis type 6
| 254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
| 2676 | Neuroectodermal-endocrine syndrome
| 254851 | Mitochondrial DNA-related dystonia
| 254854 | Pure mitochondrial myopathy
| 2668 | Nephropathy-deafness-hyperparathyroidism syndrome
| 254807 | Multiple mitochondrial DNA deletion syndrome
| 2663 | Nathalie syndrome
| 254818 | Ataxia neuropathy spectrum
| 2662 | Keipert syndrome
| 254793 | Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
| 2661 | Dwarfism-tall vertebrae syndrome
| 254803 | Mitochondrial DNA depletion syndrome, encephalomyopathic form
| 2671 | Neu-Laxova syndrome
| 254830 | Mitochondrial substrate carrier disorder
| 1475 | Renal coloboma syndrome
| 254834 | Mitochondrial protein import disorder
| 2670 | Pierson syndrome
| 254822 | Mitochondrial oxidative phosphorylation disorder with no known mechanism
| 2669 | Nephrosis-deafness-urinary tract-digital malformations syndrome
| 254827 | Mitochondrial membrane transport disorder
| 254930 | Combined oxidative phosphorylation defect type 7
| 254925 | Combined oxidative phosphorylation defect type 4
| 2697 | Arthrogryposis-renal dysfunction-cholestasis syndrome
| 254920 | Combined oxidative phosphorylation defect type 2
| 2695 | Bifid nose
| 254913 | Isolated ATP synthase deficiency
| 255182 | Pyruvate dehydrogenase E3-binding protein deficiency
| 2701 | Noonan syndrome-like disorder with loose anagen hair
| 255138 | Pyruvate dehydrogenase E1-beta deficiency
| 255132 | Adult-onset autosomal recessive sideroblastic anemia
| 2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
| 2699 | Median nodule of the upper lip
| 254886 | Autosomal recessive progressive external ophthalmoplegia
| 254881 | Spinocerebellar ataxia with epilepsy
| 254875 | Mitochondrial DNA depletion syndrome, myopathic form
| 254871 | Mitochondrial DNA depletion syndrome, hepatocerebral form
| 254905 | Isolated cytochrome C oxidase deficiency
| 254902 | Renal tubulopathy-encephalopathy-liver failure syndrome
| 2690 | Neutropenia-monocytopenia-deafness syndrome
| 254898 | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
| 254892 | Autosomal dominant progressive external ophthalmoplegia
| 2691 | Nevo syndrome
| 2712 | Oculofaciocardiodental syndrome
| 2714 | Oculo-palato-cerebral syndrome
| 2713 | Oculoosteocutaneous syndrome
| 2715 | Oculorenocerebellar syndrome
| 2718 | Oculotrichodysplasia
| 2717 | Oculotrichoanal syndrome
| 2704 | Ochoa syndrome
| 2703 | Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
| 255210 | Mitochondrial DNA-associated Leigh syndrome
| 2705 | Oculocerebral dysplasia
| 255229 | Navajo neurohepatopathy
| 2707 | Oculocerebrofacial syndrome, Kaufman type
| 255235 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
| 2710 | Oculodentodigital dysplasia
| 255241 | Leigh syndrome with leukodystrophy
| 2709 | Oculodental syndrome, Rutherfurd type
| 255249 | Leigh syndrome with nephrotic syndrome
| 2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type
| 2730 | Postaxial tetramelic oligodactyly
| 2731 | Taurodontia-absent teeth-sparse hair syndrome
| 2732 | Olivopontocerebellar atrophy-deafness syndrome
| 2733 | Omodysplasia
| 2719 | Oculocerebral hypopigmentation syndrome, Cross type
| 2720 | Oculocerebral hypopigmentation syndrome, Preus type
| 2721 | Odonto-onycho-dermal dysplasia
| 2722 | Odonto-onycho dysplasia-alopecia syndrome
| 2723 | Odontotrichomelic syndrome
| 2724 | Odontomatosis-aortae esophagus stenosis syndrome
| 260305 | Autosomal recessive sideroblastic anemia
| 2725 | Eye defects-arachnodactyly-cardiopathy syndrome
| 2755 | Orofaciodigital syndrome type 8
| 252164 | Benign schwannoma
| 2754 | Orofaciodigital syndrome type 6
| 2753 | Orofaciodigital syndrome type 4
| 2752 | Orofaciodigital syndrome type 3
| 2751 | Orofaciodigital syndrome type 2
| 252128 | Malignant peripheral nerve sheath tumor with perineurial differentiation
| 2750 | Orofaciodigital syndrome type 1
| 252131 | Benign peripheral nerve sheath tumor
| 252057 | Tumor of cranial and spinal nerves
| 252050 | Primary melanoma of the central nervous system
| 2743 | Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
| 252054 | Hemangioblastoma
| 2741 | Ophthalmomandibulomelic dysplasia
| 252031 | Diffuse leptomeningeal melanocytosis
| 252046 | Meningeal melanocytoma
| 252025 | Tumor of meninges
| 2739 | Onycho-tricho-dysplasia-neutropenia syndrome
| 252028 | Primary melanocytic tumor of central nervous system
| 252018 | Teratoma of the central nervous system
| 661 | Ondine syndrome
| 2736 | Lethal omphalocele-cleft palate syndrome
| 252021 | Mixed germ cell tumor of central nervous system

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