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

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817 Bullous dystrophy hereditary macular type 818 Bullous pemphigoid 819 Burkitt lymphoma 820 Burn Goodship syndrome 821 Burnett Schwartz Berberian syndrome 822 Burning mouth syndrome type 3 823 Burn-Mckeown syndrome 824 Buruli ulcer 825 Buschke Lowenstein tumor 826 Buschke Ollendorff syndrome 827 Bustos Simosa Pinto Cisternas syndrome 828 Byssinosis 829 C syndrome 830 CADASIL 831 Cafe au lait spots, multiple 832 Caffey disease 833 CAHMR syndrome 834 Calabro syndrome 835 Calcifying Epithelial Odontogenic Tumor 836 Calciphylaxis 837 California encephalitis 838 Calloso-genital dysplasia 839 Calvarial hyperostosis 840 Camera Marugo Cohen syndrome 841 Campomelia Cumming type 842 Campomelic dysplasia 843 Camptobrachydactyly 844 Camptocormism 845 Camptodactyly arthropathy coxa vara pericarditis syndrome 846 Camptodactyly joint contractures and facial skeletal dysplasia 847 Camptodactyly syndrome Guadalajara type 1 848 Camptodactyly syndrome Guadalajara type 2 849 Camptodactyly syndrome Guadalajara type 3 850 Camptodactyly taurinuria 851 Camptodactyly vertebral fusion 852 Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia 853 Camptodactyly, tall stature, and hearing loss syndrome 854 Camptodactyly-ichthyosis syndrome 855 Camptomelic syndrome long limb type 856 Camurati Engelmann disease, type 2
857 Camurati-Engelmann disease 858 Canavan disease 859 Candida glabrata 860 Candidiasis familial chronic mucocutaneous, autosomal recessive 861 CANOMAD syndrome 862 Cantalamessa Baldini Ambrosi syndrome 863 Cantu Sanchez-Corona Fragoso syndrome 864 Cantu Sanchez-Corona Garcia-Cruz syndrome 865 Cantu Sanchez-Corona Hernandez syndrome 866 Cantu syndrome 867 Capillary hemangioblastoma 868 Carbamoyl phosphate synthetase 1 deficiency 869 Carbon baby syndrome 870 Carcinoid syndrome 871 Carcinoid tumor 872 Carcinoid tumor childhood 873 Carcinoma of the vocal tract 874 Carcinoma of unknown primary site, childhood 875 Cardiac diverticulum 876 Cardiac hydatid cysts with intracavitary expansion 877 Cardiac rupture 878 Cardiac valvular dysplasia, X-linked 879 Cardioauditory syndrome of Sanchez Cascos 880 Cardiocranial syndrome 881 Cardioencephalomyopathy 882 Cardiofacial syndrome short limbs 883 Cardiofaciocutaneous syndrome 884 Cardiomelic syndrome Stratton Koehler type 885 Cardiomyopathy and deafness due to tRNA lysine gene mutation 886 Cardiomyopathy cataract hip spine disease 887 Cardiomyopathy diabetes deafness 888 Cardiomyopathy dilated with conduction defect type 1 889 Cardiomyopathy dilated with conduction defect type 2 890 Cardiomyopathy dilated with woolly hair and keratoderma 891 Cardiomyopathy due to anthracyclines 892 Cardiomyopathy hypogonadism collagenoma syndrome 893 Cardiomyopathy hypogonadism metabolic anomalies 894 Cardiomyopathy spherocytosis 895 Cardiomyopathy, fatal fetal, due to myocardial calcification 896 Cardioskeletal syndrome Kuwaiti type
Page 1 and 2: 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
Page 11 and 12: 389 Anterior segment mesenchymal dy
Page 13 and 14: 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: 777 Braddock Jones Superneau syndro
Page 25 and 26: 937 Cataract, autosomal recessive c
Page 27 and 28: 1012 Ceroid lipofuscinosis neuronal
Page 29 and 30: 1090 Chitayat Meunier Hodgkinson sy
Page 31 and 32: 1170 Chromosome 16p deletion 1171 C
Page 33 and 34: 1249 Chronic atypical neutrophilic
Page 35 and 36: 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 and 88:
3360 Lattice corneal dystrophy type
Page 89 and 90:
hypogammaglobulinema 3439 Leukoence
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3517 Long QT syndrome 10 3518 Long
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3594 Mal de debarquement 3595 Malak
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3672 Maturity-onset diabetes of the
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3750 Mental retardation arachnodact
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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
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4055 Myasthenia gravis 4056 Myasthe
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4134 Nance-Horan syndrome 4135 Narc
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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
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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
Page 147 and 148:
5704 Superior limbic keratoconjunct
Page 149 and 150:
5781 T-cell immunodeficiency, conge
Page 151 and 152:
5859 Thyroid cancer, childhood 5860
Page 153 and 154:
5939 Trichomalacia 5940 Trichomegal
Page 155 and 156:
6017 Ulcerative proctitis 6018 Uler
Page 157 and 158:
6096 Verloove Vanhorick Brubakk syn
Page 159 and 160:
6176 Weyers acrofacial dysostosis 6
Page 161 and 162:
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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