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

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3400 Leiomyomatosis of esophagus, cataract and hematuria 3401 Leiomyomatosis, esophageal and vulval, with nephropathy 3402 Leiomyosarcoma 3403 Leishmaniasis 3404 Leisti Hollister Rimoin syndrome 3405 Lelis syndrome 3406 Lemierre syndrome 3407 Lenegre disease 3408 Lentigo maligna melanoma 3409 Lenz Majewski hyperostotic dwarfism 3410 Lenz microphthalmia syndrome 3411 LEOPARD syndrome 3412 Leprechaunism 3413 Leptospirosis 3414 Leri pleonosteosis 3415 Leri Weill dyschondrosteosis 3416 Lesch Nyhan syndrome 3417 Lethal chondrodysplasia Moerman type 3418 Lethal chondrodysplasia Seller type 3419 Lethal congenital contracture syndrome 1 3420 Lethal congenital contracture syndrome 2 3421 Lethal short limb skeletal dysplasia Al Gazali type 3422 Lethal short-limb dwarfism, McAlister-Crane type 3423 Leucine-sensitive hypoglycemia of infancy 3424 Leucocyte adhesion defect 3425 Leukemia subleukemic 3426 Leukemia, B-cell, chronic 3427 Leukemia, Myeloid 3428 Leukemia, T-cell, chronic 3429 Leukocyte adhesion deficiency type 1 3430 Leukodystrophy 3431 Leukodystrophy reunion type 3432 Leukodystrophy with oligodontia 3433 Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia 3434 Leukodystrophy, hypomyelinating 3 3435 Leukodystrophy, pseudometachromatic 3436 Leukoencephalopathy palmoplantar keratoderma 3437 Leukoencephalopathy with vanishing white matter 3438 Leukoencephalopathy, arthritis, colitis, and
hypogammaglobulinema 3439 Leukoencephalopathy, cerebral calcifications, and cysts 3440 Leukomalacia 3441 Leukomelanoderma mental redardation hypotrichosis 3442 Leukonychia totalis 3443 Leukoplakia 3444 Levator syndrome 3445 Levic Stefanovic Nikolic syndrome 3446 Levotransposition of the great arteries 3447 Levy-Yeboa syndrome 3448 Lewy body dementia 3449 Leydig cells hypoplasia 3450 Lhermitte-Duclos disease 3451 Lichen planus follicularis 3452 Lichen planus pigmentosus 3453 Lichen sclerosus 3454 Lichtenstein syndrome 3455 Liddle syndrome 3456 Li-Fraumeni syndrome 3457 Light chain deposition disease 3458 Limb deficiencies distal with micrognathia 3459 Limb dystonia 3460 Limb reduction defect 3461 Limb-body wall complex 3462 Limb-girdle muscular dystrophy 3463 Limb-girdle muscular dystrophy type 2E 3464 Limb-girdle muscular dystrophy type 2F 3465 Limb-girdle muscular dystrophy type 2H 3466 Limb-girdle muscular dystrophy, type 1A 3467 Limb-girdle muscular dystrophy, type 1B 3468 Limb-girdle muscular dystrophy, type 2A 3469 Limb-girdle muscular dystrophy, type 2B 3470 Limb-girdle muscular dystrophy, type 2C 3471 Limb-girdle muscular dystrophy, type 2D 3472 Limb-girdle muscular dystrophy, type 2G 3473 Limbic encephalitis 3474 Limb-mammary syndrome 3475 Limited scleroderma 3476 Linear hamartoma syndrome 3477 Linear IgA disease
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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
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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
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 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: 3360 Lattice corneal dystrophy type
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
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
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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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