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

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897 Cardiospasm 898 Carnevale Hernandez Castillo syndrome 899 Carnevale syndrome 900 Carney complex 901 Carney triad 902 Carnitine palmitoyl transferase 1 deficiency 903 Carnitine palmitoyltransferase 2 deficiency 904 Carnitine palmitoyltransferase I deficiency , muscle 905 Carnitine-acylcarnitine translocase deficiency 906 Carnosinemia 907 Caroli disease 908 Carotid body tumor 909 Carpal deformity migrognathia microstomia 910 Carpenter syndrome 911 Carpo tarsal osteolysis recessive 912 Carpotarsal osteochondromatosis 913 Carrington syndrome 914 Cartilage-hair hypoplasia 915 Cartilaginous cancer 916 Cartwright Nelson Fryns syndrome 917 Caspase-8 deficiency 918 Cassavism 919 Castleman's disease 920 Cat Eye syndrome 921 Cat scratch disease 922 Catamenial pneumothorax 923 Cataract and cardiomyopathy 924 Cataract and congenital ichthyosis 925 Cataract anterior polar dominant 926 Cataract ataxia deafness 927 Cataract congenital autosomal dominant 928 Cataract congenital dominant non nuclear 929 Cataract congenital Volkmann type 930 Cataract Hutterite type 931 Cataract hypertrichosis mental retardation 932 Cataract mental retardation hypogonadism 933 Cataract microcornea syndrome 934 Cataract microphthalmia septal defect 935 Cataract skeletal anomalies 936 Cataract, alopecia, sclerodactyly
937 Cataract, autosomal recessive congenital 2 938 Cataract, congenital, with microcornea or slight microphthalmia 939 Cataract, microphthalmia and nystagmus 940 Cataract, posterior polar, 1 941 Cataract, posterior polar, 3 942 Cataract, posterior polar, 4 943 Cataract, posterior polar, 5 944 Cataract, total congenital 945 Cataract, zonular 946 Cataract-glaucoma 947 Cataract-microcephaly-failure to thrive-kyphoscoliosis 948 Cataracts, ataxia, short stature, and mental retardation 949 Catastrophic antiphospholipid syndrome 950 Catatrichy 951 Catecholaminergic polymorphic ventricular tachycardia 952 Catel Manzke syndrome 953 Cauda equina syndrome 954 Caudal appendage deafness 955 Caudal duplication 956 Caudal regression syndrome 957 Cavernous lymphangioma 958 Ccge syndrome 959 CD3 deficiency 960 CD4 deficiency 961 CDG syndrome type 3 962 CDG syndrome type 4 963 CDK4 linked melanoma 964 Cennamo Gangemi syndrome 965 Central centrifugal cicatricial alopecia 966 Central core disease 967 Central nervous system lymphoma, primary 968 Central neurocytoma 969 Central post-stroke pain 970 Central serous chorioretinopathy 971 Cercarial Dermatitis 972 Cerebellar agenesis 973 Cerebellar astrocytoma, childhood 974 Cerebellar ataxia and hypogonadotropic hypogonadism 975 Cerebellar ataxia ectodermal dysplasia
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 and 22: 777 Braddock Jones Superneau syndro
Page 23: 857 Camurati-Engelmann disease 858
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
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2894 Hyperlipoproteinemia type 4 28
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2970 Hypopituitarism postaxial poly
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3045 Immune dysfunction with T-cell
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3121 Intravascular papillary endoth
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3201 Juvenile Scleroderma 3202 Juve
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3281 Kohlschutter Tonz syndrome 328
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3360 Lattice corneal dystrophy type
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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
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3901 Mikulicz disease 3902 Miles-Ca
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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
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4293 Nystagmus, hereditary vertical
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4372 Optic atrophy 2 4373 Optic atr
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4451 Osteopetrosis autosomal domina
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4531 Papular urticaria 4532 Paracoc
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4611 Pentosuria 4612 Penttinen-Aula
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4688 Pilotto syndrome 4689 Pineal p
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4766 Pontocerebellar hypoplasia typ
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4844 Primary pigmented nodular adre
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4923 Pseudopelade of Brocq 4924 Pse
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5003 Radiation induced cancer 5004
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5079 Restless legs syndrome, suscep
Page 133 and 134:
5157 Rhizomelic syndrome 5158 RHYNS
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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
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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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