Table 4: List of Rare Diseases and Related Terms as per US ...

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4253 Noma 4254 Non 24 hour sleep wake disorder 4255 Non functioning pancreatic endocrine tumor 4256 Non-A-E hepatitis 4257 Nonalcoholic steatohepatitis 4258 Nonbullous congenital ichthyosiform erythroderma 4259 Nondystrophic myotonia 4260 Non-dystrophic myotonic disorders 4261 Non-Hodgkin lymphoma, childhood 4262 Non-Hodgkin lymphoma, during pregnancy 4263 Non-involuting congenital hemangioma 4264 Non-lissencephalic cortical dysplasia 4265 Nonmedullary thyroid carcinoma, with or without cell oxyphilia 4266 Nonseminomatous germ cell tumor 4267 Non-small cell lung cancer, childhood 4268 Nonspherocytic hemolytic anemia due to hexokinase deficiency 4269 Nonsyndromic hereditary sensorineural hearing loss 4270 Noonan syndrome 4271 Noonan syndrome 1 4272 Noonan syndrome 2 4273 Noonan syndrome 3 4274 Noonan syndrome 4 4275 Noonan syndrome 5 4276 Noonan syndrome 6 4277 Noonan-like syndrome with loose anagen hair 4278 Noonan-like/multiple giant cell lesion syndrome 4279 Normokalemic periodic paralysis 4280 Normophosphatemic familial tumoral calcinosis 4281 Norrie disease 4282 North Carolina macular dystrophy 4283 Norum disease 4284 Notalgia paresthetica 4285 Nova syndrome 4286 Novak syndrome 4287 Nuchal bleb, familial 4288 Nystagmus 1, congenital, X- linked 4289 Nystagmus 2, congenital, autosomal dominant 4290 Nystagmus 3, congenital, autosomal dominant 4291 Nystagmus 4, congenital, autosomal dominant 4292 Nystagmus, congenital motor, autosomal recessive
4293 Nystagmus, hereditary vertical 4294 Nystagmus, myoclonic 4295 O Donnell Pappas syndrome 4296 Occipital horn syndrome 4297 Occult spinal dysraphism 4298 Ochoa syndrome 4299 Ochronosis 4300 Ocular albinism type 1 4301 Ocular cicatricial pemphigoid 4302 Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities 4303 Ocular melanoma 4304 Ocular motility disorders 4305 Ocular Muscular Dystrophy 4306 Ocular neuromyotonia 4307 Ocular toxoplasmosis 4308 Oculo cerebro acral syndrome 4309 Oculo cerebro osseous syndrome 4310 Oculo digital syndrome 4311 Oculo skeletal renal syndrome 4312 Oculoauriculofrontonasal syndrome 4313 Oculo-cerebral dysplasia 4314 Oculocerebral hypopigmentation syndrome type Preus 4315 Oculocerebral syndrome with hypopigmentation 4316 Oculocerebrocutaneous syndrome 4317 Oculocutaneous albinism 4318 Oculocutaneous albinism type 1 4319 Oculocutaneous albinism type 1B 4320 Oculocutaneous albinism type 2 4321 Oculocutaneous albinism type 3 4322 Oculodentodigital dysplasia 4323 Oculodentodigital dysplasia dominant 4324 Oculodentoosseous dysplasia recessive 4325 Oculoectodermal syndrome 4326 Oculofaciocardiodental syndrome 4327 Oculomaxillofacial dysostosis 4328 Oculomotor apraxia Cogan type 4329 Oculootofacial dysplasia 4330 Oculopharyngeal muscular dystrophy 4331 Oculorenocerebellar syndrome
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Table 4: List of Rare Diseases and
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77 Acrodysplasia with ossification
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156 Adenosine deaminase deficiency
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235 Alopecia mental retardation syn
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313 Anal sphincter dysplasia 314 An
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389 Anterior segment mesenchymal dy
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467 Arthrogryposis renal dysfunctio
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542 Autosomal recessive neuronal ce
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621 Becker muscular dystrophy 622 B
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699 Blastoma 700 Blastomycosis 701
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777 Braddock Jones Superneau syndro
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857 Camurati-Engelmann disease 858
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937 Cataract, autosomal recessive c
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1012 Ceroid lipofuscinosis neuronal
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1090 Chitayat Meunier Hodgkinson sy
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1170 Chromosome 16p deletion 1171 C
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1249 Chronic atypical neutrophilic
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1325 Cochleosaccular degeneration o
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1404 Congenital aplastic anemia 140
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1482 Congenital nonprogressive myop
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1561 Cranioacrofacial syndrome 1562
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1641 Cutis laxa, autosomal recessiv
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1713 Deafness, autosomal dominant n
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1790 Diamond-Blackfan anemia 2 1791
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1868 Duane syndrome 1869 Duane synd
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1946 EAF 1947 Eagle syndrome 1948 E
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2024 Endocardial fibroelastosis 202
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2102 Erythropoietic uroporphyria as
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2181 Familial exudative vitreoretin
Page 59 and 60: 2260 Fetal brain disruption sequenc
Page 61 and 62: 2338 Frank Ter Haar syndrome 2339 F
Page 63 and 64: 2418 Gay Feinmesser Cohen syndrome
Page 65 and 66: 2497 Glucocorticoid resistance 2498
Page 67 and 68: 2577 Gray platelet syndrome 2578 Gr
Page 69 and 70: 2656 Hemicrania continua 2657 Hemif
Page 71 and 72: 2734 Hereditary nodular heterotopia
Page 73 and 74: 2814 Horner's syndrome 2815 Horsesh
Page 75 and 76: 2894 Hyperlipoproteinemia type 4 28
Page 77 and 78: 2970 Hypopituitarism postaxial poly
Page 79 and 80: 3045 Immune dysfunction with T-cell
Page 81 and 82: 3121 Intravascular papillary endoth
Page 83 and 84: 3201 Juvenile Scleroderma 3202 Juve
Page 85 and 86: 3281 Kohlschutter Tonz syndrome 328
Page 87 and 88: 3360 Lattice corneal dystrophy type
Page 89 and 90: hypogammaglobulinema 3439 Leukoence
Page 91 and 92: 3517 Long QT syndrome 10 3518 Long
Page 93 and 94: 3594 Mal de debarquement 3595 Malak
Page 95 and 96: 3672 Maturity-onset diabetes of the
Page 97 and 98: 3750 Mental retardation arachnodact
Page 99 and 100: 3824 Methylmalonic acidemia with ho
Page 101 and 102: 3901 Mikulicz disease 3902 Miles-Ca
Page 103 and 104: 3977 Muckle-Wells syndrome 3978 Muc
Page 105 and 106: 4055 Myasthenia gravis 4056 Myasthe
Page 107 and 108: 4134 Nance-Horan syndrome 4135 Narc
Page 109: 4213 Neuromyelitis optica spectrum
Page 113 and 114: 4372 Optic atrophy 2 4373 Optic atr
Page 115 and 116: 4451 Osteopetrosis autosomal domina
Page 117 and 118: 4531 Papular urticaria 4532 Paracoc
Page 119 and 120: 4611 Pentosuria 4612 Penttinen-Aula
Page 121 and 122: 4688 Pilotto syndrome 4689 Pineal p
Page 123 and 124: 4766 Pontocerebellar hypoplasia typ
Page 125 and 126: 4844 Primary pigmented nodular adre
Page 127 and 128: 4923 Pseudopelade of Brocq 4924 Pse
Page 129 and 130: 5003 Radiation induced cancer 5004
Page 131 and 132: 5079 Restless legs syndrome, suscep
Page 133 and 134: 5157 Rhizomelic syndrome 5158 RHYNS
Page 135 and 136: 5237 Sacral defect with anterior me
Page 137 and 138: 5317 Seckel syndrome 5318 Secretory
Page 139 and 140: 5391 Short stature, cranial hyperos
Page 141 and 142: 5470 Spastic ataxia Charlevoix-Sagu
Page 143 and 144: 5549 Spinocerebellar ataxia 27 5550
Page 145 and 146: 5625 Spondylometaphyseal dysplasia
Page 147 and 148: 5704 Superior limbic keratoconjunct
Page 149 and 150: 5781 T-cell immunodeficiency, conge
Page 151 and 152: 5859 Thyroid cancer, childhood 5860
Page 153 and 154: 5939 Trichomalacia 5940 Trichomegal
Page 155 and 156: 6017 Ulcerative proctitis 6018 Uler
Page 157 and 158: 6096 Verloove Vanhorick Brubakk syn
Page 159 and 160: 6176 Weyers acrofacial dysostosis 6
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6253 X-linked mental retardation Gu
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Note: 6333 4-hydroxyphenylacetic ac
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Table 4: List of Rare Diseases and Related Terms as per US ...

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