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

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2695 Heparane sulfamidase deficiency 2696 Heparin-induced thrombocytopenia 2697 Hepatic cystic hamartoma 2698 Hepatic encephalopathy 2699 Hepatic fibrosis renal cysts mental retardation 2700 Hepatic venoocclusive disease with immunodeficiency 2701 Hepatitis E 2702 Hepatoblastoma 2703 Hepatocellular carcinoma (fibrolamellar variant) 2704 Hepatocellular carcinoma, childhood 2705 Hepatoerythropoietic porphyria 2706 Hepatorenal syndrome 2707 Hereditary amyloidosis 2708 Hereditary angioedema 2709 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome 2710 Hereditary ataxia 2711 Hereditary cerebellar ataxia syndrome of early onset 2712 Hereditary cerebral hemorrhage with amyloidosis 2713 Hereditary congenital facial paresis 2714 Hereditary coproporphyria 2715 Hereditary diffuse gastric cancer 2716 Hereditary diffuse leukoencephalopathy with spheroids 2717 Hereditary elliptocytosis 2718 Hereditary endotheliopathy, retinopathy, nephropathy, and stroke 2719 Hereditary fructose intolerance 2720 Hereditary hemorrhagic telangiectasia 2721 Hereditary hemorrhagic telangiectasia type 2 2722 Hereditary hemorrhagic telangiectasia type 3 2723 Hereditary hemorrhagic telangiectasia type 4 2724 Hereditary hyperekplexia 2725 Hereditary hyperuricemia 2726 Hereditary koilonychia 2727 Hereditary lymphedema type II 2728 Hereditary methemoglobinemia, recessive 2729 Hereditary mucoepithelial dysplasia 2730 Hereditary multiple osteochondromas 2731 Hereditary myopathy with intranuclear filamentous 2732 Hereditary neuralgic amyotrophy 2733 Hereditary neuropathy with liability to pressure palsy
2734 Hereditary nodular heterotopia 2735 Hereditary orotic aciduria without megaloblastic anaemia 2736 Hereditary pancreatitis 2737 Hereditary paroxysmal cerebral ataxia 2738 Hereditary peripheral nervous disorder 2739 Hereditary primary Fanconi disease 2740 Hereditary resistance to anti-vitamin K 2741 Hereditary sensory and autonomic neuropathy type 2 2742 Hereditary spastic paraplegia 2743 Hereditary spherocytosis 2744 Hereditary type 1 neuropathy 2745 Hereditary type 2 neuropathy 2746 Hereditary vascular retinopathy 2747 Hermansky Pudlak syndrome 2 2748 Hermansky-Pudlak syndrome 2749 Herpes simiae (B virus) 2750 Herpes simplex encephalitis 2751 Herpes virus antenatal infection 2752 Herpes zoster ophthalmicus 2753 Herpes zoster oticus 2754 Herpesvirus simiae B virus 2755 Herpetic embryopathy 2756 Herpetic keratitis 2757 Herrmann Opitz arthrogryposis syndrome 2758 Herrmann Opitz craniosynostosis 2759 Herrmann syndrome 2760 Hersh Podruch Weisskopk syndrome 2761 Heterochromia iridis 2762 Heterotaxy 2763 HHV-6 encephalitis 2764 Hidradenocarcinoma 2765 High molecular weight kininogen deficiency 2766 Hillig syndrome 2767 Hing Torack Dowston syndrome 2768 Hip luxation 2769 Hip subluxation 2770 Hirschsprung disease ganglioneuroblastoma 2771 Hirschsprung disease polydactyly heart disease 2772 Hirschsprung disease type 2 2773 Hirschsprung disease type 3
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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
Page 17 and 18:
621 Becker muscular dystrophy 622 B
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
Page 67 and 68: 2577 Gray platelet syndrome 2578 Gr
Page 69: 2656 Hemicrania continua 2657 Hemif
Page 73 and 74: 2814 Horner's syndrome 2815 Horsesh
Page 75 and 76: 2894 Hyperlipoproteinemia type 4 28
Page 77 and 78: 2970 Hypopituitarism postaxial poly
Page 79 and 80: 3045 Immune dysfunction with T-cell
Page 81 and 82: 3121 Intravascular papillary endoth
Page 83 and 84: 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
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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
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4923 Pseudopelade of Brocq 4924 Pse
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5003 Radiation induced cancer 5004
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5079 Restless legs syndrome, suscep
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5157 Rhizomelic syndrome 5158 RHYNS
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5237 Sacral defect with anterior me
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5317 Seckel syndrome 5318 Secretory
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5391 Short stature, cranial hyperos
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5470 Spastic ataxia Charlevoix-Sagu
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5549 Spinocerebellar ataxia 27 5550
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5625 Spondylometaphyseal dysplasia
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5704 Superior limbic keratoconjunct
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5781 T-cell immunodeficiency, conge
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5859 Thyroid cancer, childhood 5860
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5939 Trichomalacia 5940 Trichomegal
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6017 Ulcerative proctitis 6018 Uler
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6096 Verloove Vanhorick Brubakk syn
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6176 Weyers acrofacial dysostosis 6
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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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