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

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5118 Retinitis Pigmentosa 36 5119 Retinitis Pigmentosa 4 5120 Retinitis Pigmentosa 41 5121 Retinitis Pigmentosa 6 5122 Retinitis Pigmentosa 7 5123 Retinitis Pigmentosa 9 5124 Retinitis pigmentosa, deafness, mental retardation, and hypogonadism 5125 Retinitis pigmentosa-deafness syndrome 5126 Retinoblastoma 5127 Retinochoroidal coloboma 5128 Retinohepatoendocrinologic syndrome 5129 Retinopathy anemia CNS anomalies 5130 Retinopathy aplastic anemia neurological abnormalities 5131 Retinopathy of prematurity 5132 Retinopathy pigmentary mental retardation 5133 Retinopathy, arteriosclerotic 5134 Retinoschisis autosomal dominant 5135 Retinoschisis of Fovea 5136 Retroperitoneal fibrosis 5137 Retroperitoneal liposarcoma 5138 Rett syndrome 5139 Revesz syndrome 5140 Reye syndrome 5141 Reynolds Neri Hermann syndrome 5142 Reynolds syndrome 5143 Rhabditida Infections 5144 Rhabdoid tumor 5145 Rhabdomyomatous mesenchymal hamartoma 5146 Rhabdomyosarcoma alveolar 5147 Rhabdomyosarcoma embryonal 5148 Rheumatic Fever 5149 Rheumatoid nodulosis 5150 Rheumatoid vasculitis 5151 Rhizomelic chondrodysplasia punctata type 1 5152 Rhizomelic chondrodysplasia punctata type 2 5153 Rhizomelic chondrodysplasia punctata, type 3 5154 Rhizomelic dysplasia Patterson Lowry type 5155 Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 5156 Rhizomelic pseudopolyarthritis
5157 Rhizomelic syndrome 5158 RHYNS syndrome 5159 Ribbing disease 5160 Richards-Rundle syndrome 5161 Richieri Costa Da Silva syndrome 5162 Richieri Costa Guion Almeida syndrome 5163 Richieri Costa Orquizas syndrome 5164 Richieri Costa Pereira syndrome 5165 Richieri-Costa Colletto Otto syndrome 5166 Richieri-Costa Guion-Almeida Cohen syndrome 5167 Richter syndrome 5168 Rickets 5169 Right atrium familial dilatation 5170 Right ventricle hypoplasia 5171 Rigid spine syndrome 5172 Ring chromosome 1 5173 Ring chromosome 10 5174 Ring chromosome 11 5175 Ring chromosome 12 5176 Ring chromosome 13 5177 Ring chromosome 14 5178 Ring chromosome 15 5179 Ring chromosome 16 5180 Ring chromosome 17 5181 Ring chromosome 18 5182 Ring chromosome 19 5183 Ring chromosome 2 5184 Ring chromosome 20 5185 Ring chromosome 21 5186 Ring chromosome 22 5187 Ring chromosome 3 5188 Ring chromosome 4 5189 Ring chromosome 5 5190 Ring chromosome 6 5191 Ring chromosome 7 5192 Ring chromosome 8 5193 Ring chromosome 9 5194 Ring dermoid of cornea 5195 Ringed hair disease 5196 Rippling muscle disease
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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
Page 11 and 12:
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
Page 23 and 24:
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
Page 35 and 36:
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
Page 55 and 56:
2102 Erythropoietic uroporphyria as
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2181 Familial exudative vitreoretin
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2260 Fetal brain disruption sequenc
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2338 Frank Ter Haar syndrome 2339 F
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2418 Gay Feinmesser Cohen syndrome
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2497 Glucocorticoid resistance 2498
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2577 Gray platelet syndrome 2578 Gr
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2656 Hemicrania continua 2657 Hemif
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2734 Hereditary nodular heterotopia
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2814 Horner's syndrome 2815 Horsesh
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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 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: 5079 Restless legs syndrome, suscep
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
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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