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

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5431 Sitosterolemia 5432 Situs inversus 5433 Situs inversus totalis with cystic dysplasia of kidneys and pancreas 5434 Sixth nerve palsy 5435 Sjogren-Larsson syndrome 5436 Sjogren-Larsson-like syndrome 5437 Sjogren's syndrome, juvenile, secondary to autoimmune disease 5438 Skeletal dysplasia orofacial anomalies 5439 Skeletal dysplasia, San Diego type 5440 Skeleto cardiac syndrome with thrombocytopenia 5441 Skin cancer, non melanoma, childhood 5442 Skin fragility woolly hair syndrome 5443 Slavotinek Pike Mills Hurst syndrome 5444 Slow-channel congenital myasthenic syndrome 5445 Slti Salem syndrome 5446 Small cell lung cancer, childhood 5447 Small cell lung cancer, adult 5448 Small intestine cancer 5449 Small intestine cancer, childhood 5450 Small non-cleaved cell lymphoma 5451 Small patella syndrome 5452 Smallpox 5453 Smith McCort dysplasia 5454 Smith-Lemli-Opitz syndrome type 1 5455 Smith-Lemli-Opitz syndrome type 2 5456 Smith-Magenis syndrome 5457 Sneddon syndrome 5458 Snowflake vitreoretinal degeneration 5459 Snyder-Robinson syndrome 5460 Soft tissue sarcoma 5461 Soft tissue sarcoma childhood 5462 Sohval Soffer syndrome 5463 Somatostatinoma 5464 Sonoda syndrome 5465 Sosby syndrome 5466 Sotos syndrome 5467 Sparse hair ptosis mental retardation 5468 Spasmodic dysphonia 5469 Spastic angina with healthy coronary artery
5470 Spastic ataxia Charlevoix-Saguenay type 5471 Spastic diplegia infantile type 5472 Spastic paraparesis 5473 Spastic paraplegia 1 5474 Spastic paraplegia 10 5475 Spastic paraplegia 11 5476 Spastic paraplegia 12 5477 Spastic paraplegia 13 5478 Spastic paraplegia 14 5479 Spastic paraplegia 15 5480 Spastic paraplegia 16 5481 Spastic paraplegia 17 5482 Spastic paraplegia 18 5483 Spastic paraplegia 19 5484 Spastic paraplegia 2 5485 Spastic paraplegia 20 5486 Spastic paraplegia 23 5487 Spastic paraplegia 24 5488 Spastic paraplegia 25 5489 Spastic paraplegia 26 5490 Spastic paraplegia 29 5491 Spastic paraplegia 3 5492 Spastic paraplegia 31 5493 Spastic paraplegia 39 5494 Spastic paraplegia 4 5495 Spastic paraplegia 51 5496 Spastic paraplegia 5A 5497 Spastic paraplegia 5B 5498 Spastic paraplegia 6 5499 Spastic paraplegia 7 5500 Spastic paraplegia 8 5501 Spastic paraplegia 9 5502 Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation 5503 Spastic paraplegia epilepsy mental retardation 5504 Spastic paraplegia facial cutaneous lesions 5505 Spastic paraplegia neuropathy poikiloderma 5506 Spastic paraplegia with precocious puberty 5507 Spastic paresis glaucoma mental retardation 5508 Spastic quadriplegia retinitis pigmentosa mental retardation
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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
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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
Page 21 and 22:
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
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3281 Kohlschutter Tonz syndrome 328
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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 and 136: 5237 Sacral defect with anterior me
Page 137 and 138: 5317 Seckel syndrome 5318 Secretory
Page 139: 5391 Short stature, cranial hyperos
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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