orphafolder

| 206580 | Autosomal recessive lower motor neuron disease with childhood onset
| 206575 | Rippling muscle disease with myasthenia gravis
| 206443 | Late-infantile/juvenile Krabbe disease
| 3439 | Von Voss-Cherstvoy syndrome
| 206448 | Adult Krabbe disease
| 206470 | Serous or mucinous cystadenoma of childhood
| 1217 | Spinal atrophy-ophthalmoplegia-pyramidal syndrome
| 206473 | Borderline epithelial tumor of ovary
| 206484 | Gonadoblastoma
| 2680 | Hypomyelination neuropathy-arthrogryposis syndrome
| 206489 | Malignant germ cell tumor of the vagina
| 1681 | Diprosopus
| 206492 | Vulvovaginal rhabdomyosarcoma
| 1655 | Müllerian derivatives-lymphangiectasia-polydactyly syndrome
| 206701 | Bulbospinal muscular atrophy
| 633 | Laron syndrome
| 206662 | Inclusion myopathy
| 478 | Kallmann syndrome
| 206710 | Generalized bulbospinal muscular atrophy
| 206707 | Bulbospinal muscular atrophy of adult
| 822 | Hereditary spherocytosis
| 910 | Xeroderma pigmentosum
| 206704 | Bulbospinal muscular atrophy of childhood
| 229 | Familial aortic dissection
| 206966 | Mitochondrial myopathy
| 206959 | Muscular glycogenosis
| 777 | X-linked non-syndromic intellectual disability
| 206953 | Muscular lipidosis
| 766 | Hemolytic anemia due to red cell pyruvate kinase deficiency
| 206976 | Periodic paralysis
| 411 | Hyperlipoproteinemia type 1
| 28 | Vitamin B12-responsive methylmalonic acidemia
| 206973 | Congenital myotonia
| 206970 | Myotonic syndrome
| 206594 | Subacute inflammatory demyelinating polyneuropathy
| 206599 | Isolated asymptomatic elevation of creatine phosphokinase
| 3206 | Stüve-Wiedemann syndrome
| 206583 | Adult polyglucosan body disease
| 206586 | Neurolymphomatosis
| 206613 | Infectious disease with peripheral neuropathy
| 2729 | Okamoto syndrome
| 206638 | Acquired skeletal muscle disease
| 65 | Leber congenital amaurosis
| 206644 | Progressive muscular dystrophy
| 206634 | Genetic skeletal muscle disease
| 206653 | Autosomal recessive distal myopathy
| 321 | Multiple osteochondromas
| 206656 | Non-dystrophic myopathy
| 144 | Lynch syndrome
| 206647 | Myotonic dystrophy
| 206650 | Autosomal dominant distal myopathy
| 110 | Bardet-Biedl syndrome
| 207085 | Qualitative or quantitative defects of dystrophin
| 2756 | Orofaciodigital syndrome type 10
| 207090 | Qualitative or quantitative defects of collagen 6
| 3095 | Atypical Rett syndrome
| 207094 | Qualitative or quantitative defects of merosin
| 2326 | Kallmann syndrome-heart disease syndrome
| 207098 | Qualitative or quantitative defects of integrin alpha-7
| 207067 | Qualitative or quantitative defects of gamma-sarcoglycan
| 1130 | Arachnodactyly-intellectual disability-dysmorphism syndrome
| 207070 | Qualitative or quantitative defects of delta-sarcoglycan
| 207073 | Qualitative or quantitative defects of dysferlin
| 207078 | Qualitative or quantitative defects of caveolin-3
| 3207 | White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
| 207049 | Qualitative or quantitative protein defects in neuromuscular diseases
| 936 | Succinic acidemia
| 207052 | Qualitative or quantitative defects of sarcoglycan
| 207060 | Qualitative or quantitative defects of alpha-sarcoglycan
| 207063 | Qualitative or quantitative defects of beta-sarcoglycan
| 2244 | Hypopituitarism-microphthalmia syndrome
| 207038 | Acute and subacute inflammatory demyelinating polyneuropathy
| 2058 | Fryns-Smeets-Thiry syndrome
| 2538 | Microgastria-limb reduction defect syndrome
| 1192 | Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
| 207046 | Malignant lymphoma with peripheral neuropathy
| 207021 | Rare hereditary systemic disease with peripheral neuropathy
| 2062 | Progressive non-infectious anterior vertebral fusion
| 207018 | Rare hereditary metabolic disease with peripheral neuropathy
| 2015 | Cleft palate-short stature-vertebral anomalies syndrome
| 207028 | Cerebellar ataxia with peripheral neuropathy
| 2427 | Macrocephaly-short stature-paraplegia syndrome
| 207025 | Rare hereditary neurologic disease with peripheral neuropathy
| 2898 | X-linked intellectual disability-plagiocephaly syndrome
| 1474 | Colobomatous-microphthalmia-heart disease-hearing loss syndrome
| 207015 | Rare hereditary disease with peripheral neuropathy
| 207012 | Spinal muscular atrophy associated with central nervous system anomaly
| 206997 | Parasitic myositis
| 206994 | Bacterial myositis
| 207000 | Fungal myositis
| 2349 | Muscular pseudohypertrophy-hypothyroidism syndrome
| 1423 | Lethal recessive chondrodysplasia
| 2183 | Hydrocephalus-obesity-hypogonadism syndrome
| 206982 | Muscular tumor
| 206991 | Viral myositis
| 206988 | Infectious, fungal or parasitic myopathy
| 209007 | Systemic inflammatory disease associated with an acquired peripheral neuropathy
| 209010 | Peripheral neuropathy associated with monoclonal gammopathy
| 1114 | Aplasia cutis congenita
| 208999 | Paraneoplastic sensory ganglionopathy

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