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

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3478 Linear nevus sebaceous syndrome 3479 Linear porokeratosis 3480 Linear scleroderma 3481 Lip and oral cavity cancer 3482 Lipase deficiency combined 3483 Lipidosis with triglycerid storage disease 3484 Lipoamide dehydrogenase deficiency 3485 Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules 3486 Lipodermatosclerosis 3487 Lipodystrophy 3488 Lipodystrophy, familial partial, type 2 3489 Lipogranulomatosis 3490 Lipoid proteinosis of Urbach and Wiethe 3491 Lipomyelomeningocele 3492 Liposarcoma 3493 Lissencephaly 1 3494 Lissencephaly 2 3495 Lissencephaly syndrome type 1 3496 Lissencephaly X-linked 3497 Lissencephaly, isolated 3498 Listeria infection 3499 Littoral cell angioma of the spleen 3500 Liver cancer 3501 Liver failure acute infantile 3502 Localized epiphyseal dysplasia 3503 Localized hypertrophic neuropathy 3504 Localized scleroderma 3505 Locked-in syndrome 3506 Lockwood Feingold syndrome 3507 Loeys-Dietz syndrome 3508 Loeys-Dietz syndrome type 1A 3509 Loeys-Dietz syndrome type 1B 3510 Loeys-Dietz syndrome type 2A 3511 Loeys-Dietz syndrome type 2B 3512 Loeys-Dietz syndrome type 3 3513 Logopenic progressive aphasia 3514 Loiasis 3515 Loin pain hematuria syndrome 3516 Long QT syndrome 1
3517 Long QT syndrome 10 3518 Long QT syndrome 11 3519 Long QT syndrome 2 3520 Long QT syndrome 3 3521 Long QT syndrome 4 3522 Long QT syndrome 5 3523 Long QT syndrome 6 3524 Long QT syndrome 8 3525 Long QT syndrome 9 3526 Loose anagen hair syndrome 3527 Lopes Gorlin syndrome 3528 Lowe oculocerebrorenal syndrome 3529 Lower mesodermal defects sequence 3530 Lowry Maclean syndrome 3531 Lowry Wood syndrome 3532 Lubani Al Saleh Teebi syndrome 3533 Lubinsky syndrome 3534 Lubs X-linked mental retardation syndrome 3535 Lucey-Driscoll syndrome 3536 Lujan Fryns syndrome 3537 Lumbar malsegmentation short stature 3538 Lung agenesis 3539 Lupus nephritis 3540 Lutz Richner Landolt syndrome 3541 Lymph node neoplasm 3542 Lymphangiectasis 3543 Lymphangioleiomyomatosis 3544 Lymphangioma 3545 Lymphangiomatosis 3546 Lymphatic filariasis 3547 Lymphatic neoplasm 3548 Lymphedema and cerebral arteriovenous anomaly 3549 Lymphedema, microcephaly and chorioretinopathy syndrome 3550 Lymphedema, congenital 3551 Lymphedema-distichiasis syndrome 3552 Lymphoblastic lymphoma 3553 Lymphocytes absent 3554 Lymphocytic colitis 3555 Lymphocytic hypophysitis 3556 Lymphocytic infiltrate of Jessner
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Table 4: List of Rare Diseases and
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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
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 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: hypogammaglobulinema 3439 Leukoence
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
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
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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
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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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