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

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5277 Schaefer Stein Oshman syndrome 5278 Scheuermann disease 5279 Schimke immunoosseous dysplasia 5280 Schimke X-linked mental retardation syndrome 5281 Schindler disease, type 1 5282 Schinzel Giedion syndrome 5283 Schisis association 5284 Schistosomiasis 5285 Schizencephaly 5286 Schizophrenia mental retardation deafness retinitis 5287 Schizotaxia 5288 Schlegelberger Grote syndrome 5289 Schmitt Gillenwater Kelly syndrome 5290 Schneckenbecken dysplasia 5291 Scholte syndrome 5292 Schrander-Stumpel Theunissen Hulsmans syndrome 5293 Schroer Hammer Mauldin syndrome 5294 Schwannoma 5295 Schwannomatosis 5296 Schwartz Cohen-Addad Lambert syndrome 5297 Schwartz Jampel syndrome type 1 5298 Scleredema 5299 Scleroatonic muscular dystrophy 5300 Sclerocornea, Syndactyly, ambiguous genitalia 5301 Scleromyxedema 5302 Sclerosing bone dysplasia mental retardation 5303 Sclerosing mesenteritis 5304 Sclerosteosis 5305 Sclerotylosis 5306 Scoliosis with unilateral unsegmented bar 5307 SCOT deficiency 5308 Scott Bryant Graham syndrome 5309 Scott syndrome 5310 Scurvy 5311 Sea-Blue histiocytosis 5312 Seaver Cassidy syndrome 5313 Sebaceous gland hyperplasia, familial presenile 5314 Sebocystomatosis 5315 Secernentea Infections 5316 Seckel like syndrome Majoor-Krakauer type
5317 Seckel syndrome 5318 Secretory breast carcinoma 5319 Segawa syndrome, autosomal recessive 5320 Segmentation syndrome 1 5321 Seizures benign familial neonatal recessive form 5322 Seizures mental retardation hair dysplasia 5323 Selective IgA deficiency 5324 Selenium poisoning 5325 Selig Benacerraf Greene syndrome 5326 Semantic dementia 5327 Seminoma 5328 Semmekrot Haraldsson Weemaes syndrome 5329 Sener syndrome 5330 Senior Loken Syndrome 5331 Sennetsu Fever 5332 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 5333 Sensory neuropathy type 1 5334 Senter syndrome 5335 Seow Najjar syndrome 5336 Sepiapterin reductase deficiency 5337 Septo-optic dysplasia 5338 Sequeiros Sack syndrome 5339 Seres-Santamaria Arimany Muniz syndrome 5340 Serkal syndrome 5341 Serpentine fibula polycystic kidney syndrome 5342 Serpiginous choroiditis 5343 Sertoli cell-only syndrome 5344 Sertoli-leydig cell tumors 5345 SeSAME syndrome 5346 Severe achondroplasia with developmental delay and acanthosis nigricans 5347 Severe combined immunodeficiency 5348 Severe combined immunodeficiency with sensitivity to ionizing radiation 5349 Severe combined immunodeficiency, atypical 5350 Severe congenital neutropenia autosomal dominant 5351 Severe congenital neutropenia autosomal recessive 3 5352 Severe congenital neutropenia X-linked 5353 Severe generalized recessive dystrophic epidermolysis bullosa
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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
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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
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2970 Hypopituitarism postaxial poly
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3045 Immune dysfunction with T-cell
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3121 Intravascular papillary endoth
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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 and 132: 5079 Restless legs syndrome, suscep
Page 133 and 134: 5157 Rhizomelic syndrome 5158 RHYNS
Page 135: 5237 Sacral defect with anterior me
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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