orphafolder

| 166024 | Multiple epiphyseal dysplasia, Al-Gazali type
| 58 | Alexander disease
| 166032 | Multiple epiphyseal dysplasia, with miniepiphyses
| 61 | Alpha-mannosidosis
| 166029 | Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
| 166038 | Metaphyseal chondrodysplasia, Kaitila type
| 93 | Aspartylglucosaminuria
| 166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome
| 585 | Multiple sulfatase deficiency
| 118 | Beta-mannosidosis
| 166068 | Pontocerebellar hypoplasia type 5
| 141 | Canavan disease
| 166063 | Pontocerebellar hypoplasia type 4
| 166078 | Von Willebrand disease type 1
| 166073 | Pontocerebellar hypoplasia type 6
| 213 | Cystinosis
| 166084 | Von Willebrand disease type 2A
| 333 | Farber disease
| 166081 | Von Willebrand disease type 2
| 349 | Fucosidosis
| 166090 | Von Willebrand disease type 2M
| 365 | Glycogen storage disease due to acid maltase deficiency
| 166087 | Von Willebrand disease type 2B
| 366 | Glycogen storage disease due to glycogen debranching enzyme deficiency
| 166093 | Von Willebrand disease type 2N
| 368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency
| 166096 | Von Willebrand disease type 3
| 367 | Glycogen storage disease due to glycogen branching enzyme deficiency
| 166100 | Stickler syndrome type 3
| 371 | Glycogen storage disease due to muscle phosphofructokinase deficiency
| 166105 | FASTKD2-related infantile mitochondrial encephalomyopathy
| 369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency
| 447 | Paroxysmal nocturnal hemoglobinuria
| 166108 | Intellectual disability, Birk-Barel type
| 166113 | Bazex syndrome
| 535 | Rare cutaneous lupus erythematosus
| 166119 | Isolated osteopoikilosis
| 487 | Krabbe disease
| 166260 | Dentinogenesis imperfecta type 2
| 166265 | Dentinogenesis imperfecta type 3
| 583 | Mucopolysaccharidosis type 6
| 166272 | Odontochondrodysplasia
| 576 | Mucolipidosis type II
| 812 | Sialidosis type 1
| 166277 | Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
| 166282 | Familial sick sinus syndrome
| 578 | Mucolipidosis type IV
| 166286 | Porokeratotic eccrine ostial and dermal duct nevus
| 577 | Mucolipidosis type III
| 166291 | Dirofilariasis
| 166295 | Benign non-familial infantile seizures
| 166308 | Benign infantile focal epilepsy with midline spikes and waves during sleep
| 166305 | Benign infantile seizures associated with mild gastroenteritis
| 2912 | Poliomyelitis
| 166302 | Benign partial epilepsy with secondarily generalized seizures in infancy
| 166299 | Benign partial epilepsy of infancy with complex partial seizures
| 796 | Sandhoff disease
| 166409 | Photosensitive epilepsy
| 801 | Scleroderma
| 166311 | Benign partial infantile seizures
| 461 | Recessive X-linked ichthyosis
| 166421 | Orgasm-induced seizures
| 166418 | Eating reflex epilepsy
| 166415 | Audiogenic seizures
| 584 | Mucopolysaccharidosis type 7
| 166412 | Hot water reflex epilepsy
| 166433 | Reading seizures
| 166430 | Micturation-induced seizures
| 881 | Turner syndrome
| 166427 | Startle epilepsy
| 166424 | Thinking seizures
| 95 | Friedreich ataxia
| 166466 | Neurocutaneous syndrome with epilepsy
| 848 | Beta-thalassemia
| 846 | Alpha-thalassemia
| 166469 | Chromosomal anomaly with epilepsy as a major feature
| 586 | Cystic fibrosis
| 166463 | Epilepsy syndrome
| 262 | Duchenne and Becker muscular dystrophy
| 166478 | Cerebral malformation with epilepsy
| 166481 | Metabolic diseases with epilepsy
| 166472 | Monogenic disease with epilepsy
| 166475 | Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
| 261 | Emery-Dreifuss muscular dystrophy
| 166490 | Infectious disease with epilepsy
| 166484 | Inflammatory and autoimmune disease with epilepsy
| 166487 | Cerebral diseases of vascular origin with epilepsy
| 550 | MELAS
| 269 | Facioscapulohumeral dystrophy
| 480 | Kearns-Sayre syndrome
| 163898 | Classic paraneoplastic limbic encephalitis
| 593 | Myofibrillar myopathy
| 163895 | Paraneoplastic limbic encephalitis
| 163908 | Limbic encephalitis with LGI1 antibodies
| 163903 | Limbic encephalitis associated with antibodies to cell membrane antigens
| 551 | MERRF
| 597 | Central core disease
| 607 | Nemaline myopathy
| 163892 | Limbic encephalitis
| 163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

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