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

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4332 Odonto onycho dysplasia with alopecia 4333 Odontogenic myxoma 4334 Odontoma 4335 Odontoma dysphagia syndrome 4336 Odontomicronychial dysplasia 4337 Odontoonychodermal dysplasia 4338 Ogilvie syndrome 4339 Oguchi disease 4340 Ohtahara syndrome 4341 Okamoto syndrome 4342 Oligoastrocytoma 4343 Oligodactyly tetramelic postaxial 4344 Oligodendroglioma 4345 Oligomeganephronic renal hypoplasia 4346 Oliver syndrome 4347 Olivopontocerebellar atrophy 4348 Olivopontocerebellar atrophy deafness 4349 Ollier disease 4350 Olmsted syndrome 4351 Omenn syndrome 4352 Omodysplasia 1 4353 Omodysplasia 2 4354 Omphalocele cleft palate syndrome lethal 4355 Omphalocele exstrophy imperforate anus 4356 Omphalomesenteric cyst 4357 Omsk hemorrhagic fever 4358 Onchocerciasis 4359 Oncogenic osteomalacia 4360 Onychotrichodysplasia and neutropenia 4361 Ophthalmoplegic Muscular dystrophy 4362 Opisthorchiasis 4363 Opitz G/BBB syndrome 4364 Opsismodysplasia 4365 Opthalmic icthyosis 4366 Opthalmomandibulomelic dysplasia 4367 Opthalmoplegia mental retardation lingua scrotalis 4368 Opthalmoplegia myalgia tubular aggregates 4369 Opthalmoplegia progressive external scoliosis 4370 Optic atrophy 1 4371 Optic atrophy 1 and deafness
4372 Optic atrophy 2 4373 Optic atrophy 5 4374 Optic atrophy 6 4375 Optic atrophy and cataract, autosomal dominant 4376 Optic atrophy opthalmoplegia ptosis deafness myopia 4377 Optic atrophy polyneuropathy deafness 4378 Optic nerve hypoplasia, familial bilateral 4379 Optic neuritis 4380 Optic neuropathy, anterior ischemic 4381 Optic pathway glioma 4382 Opticoacoustic nerve atrophy dementia 4383 Oral cancer 4384 Oral leukoplakia 4385 Oral lichen planus 4386 Oral pharyngeal disorders 4387 Oral squamous cell carcinoma 4388 Oral submucous fibrosis 4389 Orbital lymphangioma 4390 Orbital lymphoma 4391 Orbital melanoma 4392 Orbital varix 4393 Organic acidemia 4394 Organic mood syndrome 4395 Ornithine transcarbamylase deficiency 4396 Ornithine translocase deficiency syndrome 4397 Ornithinemia 4398 Orofaciodigital syndrome 1 4399 Orofaciodigital syndrome 10 4400 Orofaciodigital syndrome 11 4401 Orofaciodigital syndrome 12 4402 Orofaciodigital syndrome 13 4403 Orofaciodigital syndrome 2 4404 Orofaciodigital syndrome 3 4405 Orofaciodigital syndrome 4 4406 Orofaciodigital syndrome 5 4407 Orofaciodigital syndrome 6 4408 Orofaciodigital syndrome 8 4409 Orofaciodigital syndrome 9 4410 Orofaciodigital syndromes 4411 Oro-mandibular-limb hypogenesis syndrome
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Table 4: List of Rare Diseases and
Page 3 and 4:
77 Acrodysplasia with ossification
Page 5 and 6:
156 Adenosine deaminase deficiency
Page 7 and 8:
235 Alopecia mental retardation syn
Page 9 and 10:
313 Anal sphincter dysplasia 314 An
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389 Anterior segment mesenchymal dy
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467 Arthrogryposis renal dysfunctio
Page 15 and 16:
542 Autosomal recessive neuronal ce
Page 17 and 18:
621 Becker muscular dystrophy 622 B
Page 19 and 20:
699 Blastoma 700 Blastomycosis 701
Page 21 and 22:
777 Braddock Jones Superneau syndro
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857 Camurati-Engelmann disease 858
Page 25 and 26:
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
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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 and 110: 4213 Neuromyelitis optica spectrum
Page 111: 4293 Nystagmus, hereditary vertical
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
Page 161 and 162: 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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