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

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4174 Nephropathic cystinosis 4175 Nephropathy familial with hyperuricemia 4176 Nephropathy, deafness, and hyperparathyroidism 4177 Nephrosclerosis 4178 Nephrosis deafness urinary tract digital malformation 4179 Nephrotic syndrome ocular anomalies 4180 Nephrotic syndrome, idiopathic, steroid-resistant 4181 Nerve sheath neoplasm 4182 Netherton syndrome 4183 Neu Laxova syndrome 4184 Neuhauser Daly Magnelli syndrome 4185 Neuhauser Eichner Opitz syndrome 4186 Neural crest tumor 4187 Neuroacanthocytosis 4188 Neuroaxonal dystrophy renal tubular acidosis 4189 Neuroaxonal dystrophy, infantile 4190 Neuroblastoma 4191 Neurocutaneous melanosis 4192 Neuroectodermal endocrine syndrome 4193 Neuroendocrine carcinoma of the cervix 4194 Neuroepithelioma 4195 Neurofaciodigitorenal syndrome 4196 Neuroferritinopathy 4197 Neurofibroma 4198 Neurofibromatosis 4199 Neurofibromatosis type 1 4200 Neurofibromatosis type 2 4201 Neurofibromatosis type 3A 4202 Neurofibromatosis type 3B 4203 Neurofibromatosis type 4 4204 Neurofibromatosis type 5 4205 Neurofibromatosis type 6 4206 Neurofibromatosis-Noonan syndrome 4207 Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome 4208 Neurofibrosarcoma 4209 Neurogenic diabetes insipidus 4210 Neurogenic hypertension 4211 Neuroleptic malignant syndrome 4212 Neuroma biliary tract
4213 Neuromyelitis optica spectrum disorder 4214 Neuronal ceroid lipofuscinoses 4215 Neuronal interstitial dysplasia 4216 Neuronal intranuclear inclusion disease 4217 Neuropathy ataxia retinitis pigmentosa syndrome 4218 Neuropathy hereditary sensory and autonomic type 1 4219 Neuropathy sensory spastic paraplegia 4220 Neuropathy, congenital, with arthrogryposis multiplex 4221 Neuropathy, distal hereditary motor, Jerash type 4222 Neuropathy, hereditary motor and sensory, LOM type 4223 Neuropathy, hereditary motor and sensory, Okinawa type 4224 Neuropathy, hereditary motor and sensory, Russe type 4225 Neurosyphilis 4226 Neurotoxicity syndromes 4227 Neutral lipid storage disease with myopathy 4228 Neutropenia chronic familial 4229 Neutropenia lethal congenital with eosinophilia 4230 Neutropenia monocytopenia deafness 4231 Neutrophil-specific granule deficiency 4232 Nevi flammei, familial multiple 4233 Nevo syndrome 4234 Nevoid basal cell carcinoma syndrome 4235 Nevus of Ito 4236 New daily-persistent headache 4237 Nguyen syndrome 4238 Nicolaides Baraitser syndrome 4239 Niemann-Pick disease 4240 Niemann-Pick disease type B 4241 Niemann-Pick disease type C1 4242 Niemann-Pick disease type C2 4243 Niemann-Pick disease type D 4244 Nievergelt syndrome 4245 Night blindness skeletal anomalies unusual facies 4246 Nijmegen breakage syndrome 4247 Nipah virus encephalitis 4248 Noble Bass Sherman syndrome 4249 Nocardiosis 4250 Nodular melanoma 4251 Nodular nonsuppurative panniculitis 4252 Nodular regenerative hyperplasia
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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
Page 29 and 30:
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
Page 53 and 54:
2024 Endocardial fibroelastosis 202
Page 55 and 56:
2102 Erythropoietic uroporphyria as
Page 57 and 58: 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: 4134 Nance-Horan syndrome 4135 Narc
Page 111 and 112: 4293 Nystagmus, hereditary vertical
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
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6176 Weyers acrofacial dysostosis 6
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6253 X-linked mental retardation Gu
Page 163:
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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