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

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1130 Choroid plexus calcification with mental retardation 1131 Choroid plexus carcinoma 1132 Choroid plexus cyst 1133 Choroid plexus papilloma 1134 Choroidal dystrophy central areolar 1135 Choroideremia 1136 Choroideremia hypopituitarism 1137 Choroiditis 1138 Christian Demyer Franken syndrome 1139 Christian Johnson Angenieta syndrome 1140 Christianson syndrome 1141 Chromhidrosis 1142 Chromomycosis 1143 Chromophil renal cell carcinoma 1144 Chromophobe renal cell carcinoma 1145 Chromosomal triplication 1146 Chromosome 1, uniparental disomy 1q12 q21 1147 Chromosome 10, uniparental disomy 1148 Chromosome 10p deletion 1149 Chromosome 10p duplication 1150 Chromosome 10q deletion 1151 Chromosome 10q duplication 1152 Chromosome 11p deletion 1153 Chromosome 11p duplication 1154 Chromosome 11q deletion 1155 Chromosome 11q duplication 1156 Chromosome 12p deletion 1157 Chromosome 12p duplication 1158 Chromosome 12q deletion 1159 Chromosome 12q duplication 1160 Chromosome 13q deletion 1161 Chromosome 13q duplication 1162 Chromosome 14q deletion 1163 Chromosome 14q duplication 1164 Chromosome 15, trisomy mosaicism 1165 Chromosome 15q deletion 1166 Chromosome 15q duplication 1167 Chromosome 15q25.2 deletion 1168 Chromosome 16 trisomy 1169 Chromosome 16, uniparental disomy
1170 Chromosome 16p deletion 1171 Chromosome 16p duplication 1172 Chromosome 16p13.3 deletion syndrome 1173 Chromosome 16p13.3 duplication 1174 Chromosome 16q deletion 1175 Chromosome 16q duplication 1176 Chromosome 17p deletion 1177 Chromosome 17p duplication 1178 Chromosome 17p13.1 deletion syndrome 1179 Chromosome 17q deletion 1180 Chromosome 17q duplication 1181 Chromosome 18p deletion syndrome 1182 Chromosome 18p duplication 1183 Chromosome 18p tetr<strong>as</strong>omy 1184 Chromosome 18q duplication 1185 Chromosome 19p deletion 1186 Chromosome 19p duplication 1187 Chromosome 19q deletion 1188 Chromosome 19q duplication 1189 Chromosome 19q13.11 deletion syndrome 1190 Chromosome 1p deletion 1191 Chromosome 1p duplication 1192 Chromosome 1p36 deletion syndrome 1193 Chromosome 1q deletion 1194 Chromosome 1q duplication 1195 Chromosome 1q21.1 duplication syndrome 1196 Chromosome 1q41-q42 deletion syndrome 1197 Chromosome 20 trisomy 1198 Chromosome 20p deletion 1199 Chromosome 20p duplication 1200 Chromosome 20q deletion 1201 Chromosome 20q duplication 1202 Chromosome 21, uniparental disomy 1203 Chromosome 21q deletion 1204 Chromosome 21q duplication 1205 Chromosome 22q deletion 1206 Chromosome 22q duplication 1207 Chromosome 2p deletion 1208 Chromosome 2p duplication 1209 Chromosome 2q deletion
Page 1 and 2: 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
Page 11 and 12: 389 Anterior segment mesenchymal dy
Page 13 and 14: 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
Page 23 and 24: 857 Camurati-Engelmann disease 858
Page 25 and 26: 937 Cataract, autosomal recessive c
Page 27 and 28: 1012 Ceroid lipofuscinosis neuronal
Page 29: 1090 Chitayat Meunier Hodgkinson sy
Page 33 and 34: 1249 Chronic atypical neutrophilic
Page 35 and 36: 1325 Cochleosaccular degeneration o
Page 37 and 38: 1404 Congenital aplastic anemia 140
Page 39 and 40: 1482 Congenital nonprogressive myop
Page 41 and 42: 1561 Cranioacrofacial syndrome 1562
Page 43 and 44: 1641 Cutis laxa, autosomal recessiv
Page 45 and 46: 1713 Deafness, autosomal dominant n
Page 47 and 48: 1790 Diamond-Blackfan anemia 2 1791
Page 49 and 50: 1868 Duane syndrome 1869 Duane synd
Page 51 and 52: 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
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3121 Intravascular papillary endoth
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3201 Juvenile Scleroderma 3202 Juve
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3281 Kohlschutter Tonz syndrome 328
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3360 Lattice corneal dystrophy type
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hypogammaglobulinema 3439 Leukoence
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3517 Long QT syndrome 10 3518 Long
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3594 Mal de debarquement 3595 Malak
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3672 Maturity-onset diabetes of the
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3750 Mental retardation arachnodact
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3824 Methylmalonic acidemia with ho
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3901 Mikulicz disease 3902 Miles-Ca
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3977 Muckle-Wells syndrome 3978 Muc
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4055 Myasthenia gravis 4056 Myasthe
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4134 Nance-Horan syndrome 4135 Narc
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4213 Neuromyelitis optica spectrum
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4293 Nystagmus, hereditary vertical
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4372 Optic atrophy 2 4373 Optic atr
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4451 Osteopetrosis autosomal domina
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4531 Papular urticaria 4532 Paracoc
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4611 Pentosuria 4612 Penttinen-Aula
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4688 Pilotto syndrome 4689 Pineal p
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4766 Pontocerebellar hypoplasia typ
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4844 Primary pigmented nodular adre
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4923 Pseudopelade of Brocq 4924 Pse
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5003 Radiation induced cancer 5004
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5079 Restless legs syndrome, suscep
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5157 Rhizomelic syndrome 5158 RHYNS
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5237 Sacral defect with anterior me
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5317 Seckel syndrome 5318 Secretory
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5391 Short stature, cranial hyperos
Page 141 and 142:
5470 Spastic ataxia Charlevoix-Sagu
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5549 Spinocerebellar ataxia 27 5550
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5625 Spondylometaphyseal dysplasia
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5704 Superior limbic keratoconjunct
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5781 T-cell immunodeficiency, conge
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5859 Thyroid cancer, childhood 5860
Page 153 and 154:
5939 Trichomalacia 5940 Trichomegal
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6017 Ulcerative proctitis 6018 Uler
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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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