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

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4016 Multiple epiphyseal dysplasia 3 4017 Multiple epiphyseal dysplasia 4 4018 Multiple epiphyseal dysplasia 5 4019 Multiple familial trichoepithelioma 4020 Multiple familial trichoepithelioma 1 4021 Multiple familial trichoepithelioma 2 4022 Multiple fibrofolliculoma familial 4023 Multiple joint dislocations metaphyseal dysplasia 4024 Multiple myeloma 4025 Multiple pterygium syndrome Aslan type 4026 Multiple pterygium syndrome Escobar type 4027 Multiple pterygium syndrome lethal type 4028 Multiple pterygium syndrome X-linked 4029 Multiple respiratory chain enzyme deficiencies 4030 Multiple self healing squamous epithelioma 4031 Multiple sulfatase deficiency 4032 Multiple synostoses syndrome 1 4033 Multiple synostoses syndrome 2 4034 Multiple system atrophy 4035 Multiple system atrophy (MSA) with orthostatic hypotension 4036 Multiple vertebral anomalies unusual facies 4037 Mumps 4038 Munchausen by proxy syndrome 4039 Mungan syndrome 4040 MURCS association 4041 Muscle eye brain disease 4042 Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus 4043 Muscular dystrophy 4044 Muscular Dystrophy - Late Onset 4045 Muscular dystrophy limb girdle type 2A, Erb type 4046 Muscular dystrophy white matter spongiosis 4047 Muscular dystrophy, congenital, infantile with cataract and hypogonadism 4048 Muscular dystrophy, congenital, megaconial type 4049 Muscular dystrophy, congenital, merosin-positive 4050 Muscular fibrosis multifocal obstructed vessels 4051 Muscular phosphorylase kinase deficiency 4052 Mutagen sensitivity 4053 Mutiple parosteal osteochondromatous proliferations 4054 Myalgia eosinophilia associated with tryptophan
4055 Myasthenia gravis 4056 Myasthenia gravis congenital 4057 Myasthenia gravis, limb-girdle 4058 Mycetoma 4059 Mycobacterium Abscessus 4060 Mycobacterium Avium Complex 4061 Mycobacterium Chelonae 4062 Mycobacterium fortuitum 4063 Mycobacterium Gordonae 4064 Mycobacterium Kansasii 4065 Mycobacterium Malmoense 4066 Mycobacterium Marinum 4067 Mycobacterium tuberculosis, susceptibility to infection by 4068 Mycobacterium Xenopi 4069 Mycoplasmal pneumonia 4070 Mycosis fungoides 4071 Myelitis 4072 Myelocerebellar disorder 4073 Myelocytic leukemia-like syndrome, familial, chronic 4074 Myelodysplastic syndromes 4075 Myelodysplastic/myeloproliferative disease 4076 Myelofibrosis 4077 Myeloid sarcoma 4078 Myeloid splenomegaly 4079 Myelomeningocele 4080 Myeloperoxidase deficiency 4081 MYH7-related scapuloperoneal myopathy 4082 MYH9 related thrombocytopenia 4083 MYH-associated polyposis 4084 Myhre syndrome 4085 Myocarditis 4086 Myoclonic astatic epilepsy 4087 Myoclonus ataxia 4088 Myoclonus cerebellar ataxia deafness 4089 Myoclonus epilepsy 4090 Myoclonus epilepsy partial seizure 4091 Myoclonus hereditary progressive distal muscular atrophy 4092 Myoclonus with epilepsy with ragged red fibers 4093 Myoepithelial carcinoma 4094 Myofibrillar lysis
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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
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
Page 71 and 72: 2734 Hereditary nodular heterotopia
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: 3977 Muckle-Wells syndrome 3978 Muc
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 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
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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
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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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