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

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3711 Megacystis microcolon intestinal hypoperistalsis syndrome 3712 Megaduodenum and/or megacystis 3713 Megaepiphyseal dwarfism 3714 Megalencephalic leukoencephalopathy with subcortical cysts 3715 Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome 3716 Megaloblastic anemia due to dihydrofolate reductase deficiency 3717 Megalocornea - spherophakia - secondary glaucoma 3718 Megalocornea mental retardation syndrome 3719 Megalocytic interstitial nephritis 3720 Megarbane Jalkh syndrome 3721 Megarbane syndrome 3722 Mehes syndrome 3723 Mehta Lewis Patton syndrome 3724 Meier Blumberg Imahorn syndrome 3725 Meier-Gorlin syndrome 3726 Meige syndrome 3727 Meigel disease 3728 Meinecke syndrome 3729 Melanocytic lesions of CNS 3730 Melanoma astrocytoma syndrome 3731 Melanoma, familial 3732 Meleda disease 3733 Melhem Fahl syndrome 3734 Meliodosis 3735 Melkersson-Rosenthal syndrome 3736 Melnick-Needles syndrome 3737 Melorheostosis 3738 Membranoproliferative glomerulonephritis type 2 3739 Membranous nephropathy 3740 Menetrier disease 3741 Meningioma 3742 Meningioma, spinal 3743 Meningocele 3744 Meningococcal infection 3745 Meningococcemia 3746 Meningoencephalocele 3747 Menkes disease 3748 Mental deficiency-epilepsy-endocrine disorders 3749 Mental retardation anophthalmia craniosynostosis
3750 Mental retardation arachnodactyly hypotonia telangiectasia 3751 Mental retardation athetosis microphthalmia 3752 Mental retardation cataracts calcified pinnae myopathy 3753 Mental retardation coloboma slimness 3754 Mental retardation dysmorphism hypogonadism diabetes 3755 Mental retardation epilepsy 3756 Mental retardation epilepsy bulbous nose 3757 Mental retardation gynecomastia obesity X-linked 3758 Mental retardation hip luxation G6PD variant 3759 Mental retardation hypocupremia hypobetalipoproteinemia 3760 Mental retardation hypotonia skin hyperpigmentation 3761 Mental retardation macrocephaly coarse facies hypotonia 3762 Mental retardation microcephaly phalangeal facial 3763 Mental retardation microcephaly unusual facies 3764 Mental retardation Mietens Weber type 3765 Mental retardation progressive spasticity 3766 Mental retardation short stature deafness genital 3767 Mental retardation short stature microcephaly eye 3768 Mental retardation skeletal dysplasia abducens palsy 3769 Mental retardation Smith Fineman Myers type 3770 Mental retardation spasticity ectrodactyly 3771 Mental retardation syndrome, Belgian type 3772 Mental retardation Wolff type 3773 Mental retardation X-linked borderline Maoa metabolism anomaly 3774 Mental retardation X-linked dysmorphism 3775 Mental retardation X-linked syndromic 11 3776 Mental retardation X-linked syndromic 7 3777 Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance 3778 Mental retardation X-linked, South African type 3779 Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity 3780 Mental retardation, keratoconus, febrile seizures, and sinoatrial block 3781 Mental retardation, macrocephaly, short stature and craniofacial dysmorphism 3782 Mental retardation, X-linked 14 3783 Mental retardation, X-linked, nonspecific 3784 Mental retardation-hypotonic facies syndrome X-linked, 1
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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
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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
Page 19 and 20:
699 Blastoma 700 Blastomycosis 701
Page 21 and 22:
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
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
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: 3672 Maturity-onset diabetes of the
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 and 146: 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
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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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