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

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3633 Marchiafava Bignami disease 3634 Marcus Gunn phenomenon 3635 Marden Walker like syndrome 3636 Marden-Walker syndrome 3637 Marek disease 3638 Marfan syndrome 3639 Marfanoid hypermobility syndrome 3640 Marfanoid mental retardation syndrome autosomal 3641 Marginal glioneuronal heterotopia 3642 Marie type ataxia 3643 Marie Unna congenital hypotrichosis 3644 Marinesco-Sjogren syndrome 3645 Marinesco-Sjogren-like syndrome (MSLS) 3646 Markel Vikkula Mulliken syndrome 3647 Maroteaux Fonfria syndrome 3648 Maroteaux Stanescu Cousin syndrome 3649 Marphanoid syndrome type De Silva 3650 Marsden Nyhan Sakati syndrome 3651 Marshall syndrome 3652 Marshall-Smith syndrome 3653 Martinez Monasterio Pinheiro syndrome 3654 Martsolf syndrome 3655 MASS syndrome 3656 Massa Casaer Ceulemans syndrome 3657 Mastocytic enterocolitis 3658 Mastocytosis 3659 Mastocytosis cutaneous with short stature conductive hearing loss and microtia 3660 Mastroiacovo De Rosa Satta syndrome 3661 Mastroiacovo Gambi Segni syndrome 3662 Maternal hyperphenylalaninemia 3663 Maternally inherited Leigh syndrome 3664 Matsoukas Liarikos Giannika syndrome 3665 Maturity-onset diabetes of the young 3666 Maturity-onset diabetes of the young, type 1 3667 Maturity-onset diabetes of the young, type 2 3668 Maturity-onset diabetes of the young, type 3 3669 Maturity-onset diabetes of the young, type 4 3670 Maturity-onset diabetes of the young, type 5 3671 Maturity-onset diabetes of the young, type 6
3672 Maturity-onset diabetes of the young, type 7 3673 Maturity-onset diabetes of the young, type 8 3674 Maturity-onset diabetes of the young, type 9 3675 Maumenee syndrome 3676 Maxillary double lip 3677 Maxillofacial dysostosis 3678 Maxillonasal dysplasia, Binder type 3679 Mayer-Rokitansky-Kuster-Hauser syndrome 3680 McCallum Macadam Johnston syndrome 3681 McCune Albright syndrome 3682 McDonough syndrome 3683 McDowall syndrome 3684 McGillivray syndrome 3685 McKusick Kaufman syndrome 3686 McLeod neuroacanthocytosis syndrome 3687 McPherson Clemens syndrome 3688 McPherson Robertson Cammarano syndrome 3689 MDP syndrome 3690 Meacham Winn Culler syndrome 3691 Measles 3692 Meckel syndrome 3693 Meckel syndrome type 2 3694 Meckel syndrome type 3 3695 Meconium aspiration syndrome 3696 Medeira-Dennis-Donnai syndrome 3697 Medial Medullary Syndrome 3698 Median cleft of upper lip with polyps of facial skin and nasal mucosa 3699 Median nodule of the upper lip 3700 Mediastinal endodermal sinus tumors 3701 Medium-chain 3-ketoacyl-coa thiolase deficiency 3702 Medium-chain acyl-coenzyme A dehydrogenase deficiency 3703 Medrano Roldan syndrome 3704 Medullary cystic kidney disease 3705 Medullary cystic kidney disease 1 3706 Medullary cystic kidney disease 2 3707 Medullary sponge kidney 3708 Medulloblastoma 3709 Medulloblastoma, childhood 3710 Meesmann corneal dystrophy
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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
Page 9 and 10:
313 Anal sphincter dysplasia 314 An
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389 Anterior segment mesenchymal dy
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467 Arthrogryposis renal dysfunctio
Page 15 and 16:
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
Page 23 and 24:
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
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 and 92: 3517 Long QT syndrome 10 3518 Long
Page 93: 3594 Mal de debarquement 3595 Malak
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
Page 143 and 144: 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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