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

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581 Bardet-Biedl syndrome 10 582 Bardet-Biedl syndrome 11 583 Bardet-Biedl syndrome 12 584 Bardet-Biedl syndrome 2 585 Bardet-Biedl syndrome 3 586 Bardet-Biedl syndrome 4 587 Bardet-Biedl syndrome 5 588 Bardet-Biedl syndrome 6 589 Bardet-Biedl syndrome 7 590 Bardet-Biedl syndrome 8 591 Bardet-Biedl syndrome 9 592 Bare lymphocyte syndrome 593 Bare lymphocyte syndrome 2 594 Baritosis 595 Barnicoat Baraitser syndrome 596 Baroreflex failure 597 Barraquer-Simons syndrome 598 Barth syndrome 599 Bartter syndrome 600 Bartter syndrome antenatal type 1 601 Bartter syndrome antenatal type 2 602 Bartter syndrome type 3 603 Bartter syndrome type 4 604 Basal cell carcinoma, infundibulocystic 605 Basal cell carcinoma, multiple 606 Basal cell nevus anodontia abnormal bone mineralization 607 Basal ganglia disease, biotin-responsive 608 Basaloid follicular hamartoma 609 Basan syndrome 610 Basaran Yilmaz syndrome 611 Basedow's coma 612 Basilar migraine 613 Bassoe syndrome 614 Battaglia Neri syndrome 615 Batten disease 616 Bazex-Dupre-Christol syndrome 617 Bazopoulou-Kyrkanidou syndrome 618 B-cell lymphomas 619 Bd syndrome 620 Beardwell syndrome
621 Becker muscular dystrophy 622 Becker nevus syndrome 623 Becker's nevus 624 Beckwith-Wiedemann syndrome 625 Bednar's tumor 626 Beemer Ertbruggen syndrome 627 Behcet's disease 628 Behr syndrome 629 Bejel 630 Bell's palsy 631 Ben Ari Shuper Mimouni syndrome 632 Benallegue Lacete syndrome 633 Benign angiitis of the central nervous system 634 Benign autosomal dominant myopathy 635 Benign eccrine spiradenoma 636 Benign familial infantile epilepsy 637 Benign familial neonatal-infantile seizures 638 Benign hyperphenylalaninemia 639 Benign metastasizing leiomyoma 640 Benign multicystic peritoneal mesothelioma 641 Benign paroxysmal positional vertigo 642 Benign recurrent intrahepatic cholestasis 1 643 Benign recurrent intrahepatic cholestasis 2 644 Benign rolandic epilepsy (BRE) 645 Bent bone dysplasia syndrome 646 Berger disease 647 Beriberi 648 Berk-Tabatznik syndrome 649 Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification 650 Berylliosis 651 Best vitelliform macular dystrophy 652 Best1 retinopathy 653 Beta ketothiolase deficiency 654 Beta-galactosidase-1 deficiency 655 Beta-sarcoglycanopathy 656 Beta-thalassemia 657 Bethlem myopathy 658 Beukes familial hip dysplasia 659 Bhaskar Jagannathan syndrome
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: 542 Autosomal recessive neuronal ce
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
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
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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
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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
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4372 Optic atrophy 2 4373 Optic atr
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4451 Osteopetrosis autosomal domina
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4531 Papular urticaria 4532 Paracoc
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4611 Pentosuria 4612 Penttinen-Aula
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4688 Pilotto syndrome 4689 Pineal p
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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
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5079 Restless legs syndrome, suscep
Page 133 and 134:
5157 Rhizomelic syndrome 5158 RHYNS
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5237 Sacral defect with anterior me
Page 137 and 138:
5317 Seckel syndrome 5318 Secretory
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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
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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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