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

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5664 Stiff skin syndrome 5665 Still's disease adult onset 5666 Stocco dos Santos syndrome 5667 Stoelinga de Koomen Davis syndrome 5668 Stoll Alembik Finck syndrome 5669 Stomach cancer, childhood 5670 Stomach cancer, familial 5671 Stomach carcinoma 5672 Stomatocytosis I 5673 Stomatocytosis II 5674 Storm syndrome 5675 Stratton-Garcia-Young syndrome 5676 Streptococcal Group A invasive disease 5677 Streptococcal Group B invasive disease 5678 Stress cardiomyopathy 5679 Striatonigral degeneration infantile 5680 Strongyloidiasis 5681 Sturge-Weber syndrome 5682 Stuve-Wiedemann syndrome 5683 Subacute sclerosing panencephalitis 5684 Subaortic stenosis short stature syndrome 5685 Subcortical band heterotopia 5686 Subcutaneous panniculitis-like T-cell lymphoma 5687 Subependymal giant cell astrocytoma 5688 Subependymal nodular heterotopia 5689 Subependymoma 5690 Subpulmonary stenosis 5691 Subvalvular aortic stenosis 5692 Succinic acidemia 5693 Succinic acidemia lactic acidosis congenital 5694 Succinic semialdehyde dehydrogenase deficiency 5695 Sudden Arrhythmia Death Syndrome 5696 Sudden infant death syndrome 5697 Sugarman brachydactyly 5698 Sulfite oxidase deficiency 5699 Summitt syndrome 5700 SUNCT headache 5701 Superficial siderosis of the central nervous system 5702 Superficial spreading melanoma 5703 Superior canal dehiscence syndrome
5704 Superior limbic keratoconjunctivitis 5705 Superior mesenteric artery syndrome 5706 Superior vena cava syndrome 5707 Supernumerary nipples 5708 Supraglottic laryngeal cancer 5709 Supranuclear ocular palsy 5710 Supratentorial primitive neuroectodermal tumor 5711 Supratentorial primitive neuroectodermal tumors, childhood 5712 Supraumbilical midabdominal raphe and facial cavernous hemangiomas 5713 Supravalvular aortic stenosis 5714 Susac syndrome 5715 Sutton disease 2 5716 Swyer syndrome 5717 Swyer-James syndrome 5718 Sydenham's chorea 5719 Symmastia 5720 Symmetrical thalamic calcifications 5721 Symphalangism brachydactyly craniosynostosis 5722 Symphalangism distal 5723 Symphalangism familial proximal 5724 Symphalangism short stature accessory testis 5725 Symphalangism with multiple anomalies of hands and feet 5726 Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch 5727 Syncamptodactyly scoliosis 5728 Syndactyly cataract mental retardation 5729 Syndactyly Cenani Lenz type 5730 Syndactyly ectodermal dysplasia cleft lip palate hand foot 5731 Syndactyly type 1 5732 Syndactyly type 1 with cataracts and mental retardation 5733 Syndactyly type 2 5734 Syndactyly type 3 5735 Syndactyly type 4 5736 Syndactyly type 5 5737 Syndactyly type 9 5738 Syndactyly-polydactyly-earlobe syndrome 5739 Syndesmodysplasic dwarfism 5740 Syngnathia cleft palate 5741 Syngnathia multiple anomalies
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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
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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
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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
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 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: 5625 Spondylometaphyseal dysplasia
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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