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

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660 Bidirectional tachycardia 661 Biemond syndrome 662 Biemond syndrome 2 663 Biemond syndrome type 1 664 Biermer disease 665 Bietti crystalline corneoretinal dystrophy 666 Bifid nose 667 Bifid nose with or without anorectal and renal anomalies 668 Bilateral frontal polymicrogyria 669 Bilateral frontoparietal polymicrogyria 670 Bilateral generalized polymicrogyria 671 Bilateral parasagittal parieto-occipital polymicrogyria 672 Bilateral perisylvian polymicrogyria 673 Bilateral renal agenesis dominant type 674 Bile acid synthesis defect, congenital, 1 675 Bile acid synthesis defect, congenital, 2 676 Bile acid synthesis defect, congenital, 4 677 Bile duct cancer 678 Bile duct cysts 679 Biliary atresia extrahepatic 680 Biliary atresia intrahepatic non syndromic form 681 Biliary atresia intrahepatic syndromic form 682 Biliary hypoplasia 683 Biliary tract cancer 684 Bilirubin induced brain injury in the newborn 685 Billet Bear syndrome 686 Binswanger's disease 687 Biotinidase deficiency 688 Bird headed dwarfism Montreal type 689 Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency 690 Birdshot chorioretinopathy 691 Birk Barel mental retardation dysmorphism syndrome 692 Birt-Hogg-Dube syndrome 693 Bixler Christian Gorlin syndrome 694 Bjornstad syndrome 695 BK-virus nephropathy 696 Bladder cancer, childhood 697 Blaichman syndrome 698 Blastic plasmacytoid dendritic cell
699 Blastoma 700 Blastomycosis 701 Blau syndrome 702 Blepharo naso facial syndrome Van maldergem type 703 Blepharofacioskeletal syndrome 704 Blepharonasofacial malformation syndrome 705 Blepharophimosis 706 Blepharophimosis intellectual disability syndromes 707 Blepharophimosis with ptosis, syndactyly, and short stature 708 Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 709 Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 710 Blepharoptosis myopia ectopia lentis 711 Blepharospasm 712 Bloom syndrome 713 Blount disease 714 Blue cone monochromatism 715 Blue diaper syndrome 716 Blue rubber bleb nevus syndrome 717 Bobble-head doll syndrome 718 BOD syndrome 719 Boerhaave syndrome 720 Bone cancer 721 Bone dysplasia Azouz type 722 Bone dysplasia corpus callosum agenesis 723 Bone dysplasia lethal Holmgren type 724 Bone dysplasia Moore type 725 Book syndrome 726 Boomerang dysplasia 727 BOR-Duane hydrocephalus contiguous gene syndrome 728 Borjeson-Forssman-Lehmann syndrome 729 Bork Stender Schmidt syndrome 730 Borrone Di Rocco Crovato syndrome 731 Bothriocephalosis 732 Botulism 733 Boucher Neuhauser syndrome 734 Boudhina Yedes Khiari syndrome 735 Bourneville syndrome 736 Bow hunter's stroke
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: 621 Becker muscular dystrophy 622 B
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 and 30: 1090 Chitayat Meunier Hodgkinson sy
Page 31 and 32: 1170 Chromosome 16p deletion 1171 C
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
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2734 Hereditary nodular heterotopia
Page 73 and 74:
2814 Horner's syndrome 2815 Horsesh
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2894 Hyperlipoproteinemia type 4 28
Page 77 and 78:
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
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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
Page 111 and 112:
4293 Nystagmus, hereditary vertical
Page 113 and 114:
4372 Optic atrophy 2 4373 Optic atr
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4451 Osteopetrosis autosomal domina
Page 117 and 118:
4531 Papular urticaria 4532 Paracoc
Page 119 and 120:
4611 Pentosuria 4612 Penttinen-Aula
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4688 Pilotto syndrome 4689 Pineal p
Page 123 and 124:
4766 Pontocerebellar hypoplasia typ
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4844 Primary pigmented nodular adre
Page 127 and 128:
4923 Pseudopelade of Brocq 4924 Pse
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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 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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