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

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3557 Lymphocytic vasculitis 3558 Lymphogranuloma venereum 3559 Lymphoma AIDSrelated 3560 Lymphoma, gastric non Hodgkins type 3561 Lymphoma, large-cell 3562 Lymphoma, large-cell, immunoblastic 3563 Lymphoma, small cleaved-cell, diffuse 3564 Lymphoma, small cleaved-cell, follicular 3565 Lymphomatoid granulomatosis 3566 Lymphomatoid papulosis 3567 Lymphomatous thyroiditis 3568 Lymphosarcoma 3569 Lynch syndrome 3570 Lysinuric protein intolerance 3571 Lysteria monocytoigeneses meningitis 3572 Mac Dermot Winter syndrome 3573 Macrocephaly mesodermal hamartoma spectrum 3574 Macrocephaly, benign familial 3575 Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations 3576 Macrocephaly-capillary malformation 3577 Macrodactyly of the foot 3578 Macrodactyly of the hand 3579 Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 3580 Macroglossia 3581 Macrogyria, pseudobulbar palsy and mental retardation 3582 Macrophagic myofasciitis 3583 Macrosomia with lethal microphthalmia 3584 Macrothrombocytopenia progressive deafness 3585 Macular dystrophy, atypical vitelliform 3586 Macular dystrophy, concentric annular 3587 Macular dystrophy, corneal type 1 3588 Macules hereditary congenital hypopigmented and hyperpigmented 3589 Madelung disease 3590 Madokoro Ohdo Sonoda syndrome 3591 Maffucci syndrome 3592 Mahvash disease 3593 Majeed syndrome
3594 Mal de debarquement 3595 Malakoplakia 3596 Malaria 3597 Male pseudohermaphroditism due to defective LH molecule 3598 Male pseudohermaphroditism intellectual disability syndrome, Verloes type 3599 Malignant cylindroma 3600 Malignant eccrine spiradenoma 3601 Malignant fibrous histiocytoma 3602 Malignant germ cell tumor 3603 Malignant hyperthermia 3604 Malignant hyperthermia arthrogryposis torticollis 3605 Malignant hyperthermia susceptibility type 1 3606 Malignant hyperthermia susceptibility type 2 3607 Malignant hyperthermia susceptibility type 3 3608 Malignant hyperthermia susceptibility type 4 3609 Malignant hyperthermia susceptibility type 5 3610 Malignant hyperthermia susceptibility type 6 3611 Malignant melanoma, childhood 3612 Malignant mesenchymal tumor 3613 Malignant mesothelioma 3614 Malignant mixed Mullerian tumor 3615 Malignant peripheral nerve sheath tumor 3616 Malignant Teratocarcinosarcoma 3617 Mallory-Weiss syndrome 3618 Malonyl-CoA decarboxylase deficiency 3619 Malpuech facial clefting syndrome 3620 Mandibuloacral dysplasia with type A lipodystrophy 3621 Mandibuloacral dysplasia with type B lipodystrophy 3622 Manitoba oculotrichoanal syndrome 3623 Mannosidosis, beta A, lysosomal 3624 Manouvrier syndrome 3625 Mansonelliasis 3626 Mantle cell lymphoma 3627 Manz syndrome 3628 Maple syrup urine disease 3629 Maple syrup urine disease type 1A 3630 Maple syrup urine disease type 1B 3631 Maple syrup urine disease type 2 3632 Marburg hemorrhagic fever
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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
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
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857 Camurati-Engelmann disease 858
Page 25 and 26:
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
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
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: 3517 Long QT syndrome 10 3518 Long
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
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
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5549 Spinocerebellar ataxia 27 5550
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5625 Spondylometaphyseal dysplasia
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5704 Superior limbic keratoconjunct
Page 149 and 150:
5781 T-cell immunodeficiency, conge
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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
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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