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

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976 Cerebellar ataxia infantile with progressive external ophthalmoplegia 977 Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 978 Cerebellar degeneration 979 Cerebellar degeneration, subacute 980 Cerebellar hypoplasia 981 Cerebellar hypoplasia tapetoretinal degeneration 982 Cerebellar hypoplasia with endosteal sclerosis 983 Cerebellar liponeurocytoma 984 Cerebello-olivary atrophy 985 Cerebelloparenchymal disorder 3 986 Cerebellum agenesis hydrocephaly 987 Cerebral astrocytoma, childhood 988 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy 989 Cerebral calcification cerebellar hypoplasia 990 Cerebral calcifications opalescent teeth phosphaturia 991 Cerebral cavernous malformation 992 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 993 Cerebral folate deficiency 994 Cerebral gigantism jaw cysts 995 Cerebral palsy ataxic 996 Cerebral palsy athetoid 997 Cerebral palsy mixed 998 Cerebral palsy spastic diplegic 999 Cerebral palsy spastic hemiplegic 1000 Cerebral palsy spastic monoplegic 1001 Cerebral palsy spastic quadriplegic 1002 Cerebral sarcoma 1003 Cerebral sclerosis similar to Pelizaeus-Merzbacher disease 1004 Cerebral ventricle cancer 1005 Cerebro facio thoracic dysplasia 1006 Cerebro-costo-mandibular syndrome 1007 Cerebrocostomandibular-like syndrome 1008 Cerebro-oculo-facio-skeletal syndrome 1009 Cerebrospinal fluid leak 1010 Cerebrotendinous xanthomatosis 1011 Ceroid lipofuscinosis neuronal 1
1012 Ceroid lipofuscinosis neuronal 10 1013 Ceroid lipofuscinosis neuronal 2 1014 Ceroid lipofuscinosis neuronal 5 1015 Ceroid lipofuscinosis neuronal 6 1016 Ceroid lipofuscinosis neuronal 7 1017 Ceroid lipofuscinosis neuronal 8 1018 Ceroid lipofuscinosis neuronal 9 1019 Ceroid storage disease 1020 Cerulean cataract 1021 Cervical dystonia 1022 Cervical hypertrichosis peripheral neuropathy 1023 Cervical intraepithelial neoplasia 1024 Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction 1025 Chagas disease 1026 Chanarin-Dorfman syndrome 1027 Chancroid 1028 CHAND syndrome 1029 Chandler's syndrome 1030 Chang Davidson Carlson syndrome 1031 Chaotic atrial tachycardia 1032 Char syndrome 1033 Charcot-Marie-Tooth disease 1034 Charcot-Marie-Tooth disease deafness recessive type 1035 Charcot-Marie-Tooth disease dominant intermediate 1 1036 Charcot-Marie-Tooth disease dominant intermediate 2 1037 Charcot-Marie-Tooth disease dominant intermediate 3 1038 Charcot-Marie-Tooth disease neuronal type A 1039 Charcot-Marie-Tooth disease neuronal type B 1040 Charcot-Marie-Tooth disease neuronal type D 1041 Charcot-Marie-Tooth disease type 1A 1042 Charcot-Marie-Tooth disease type 1B 1043 Charcot-Marie-Tooth disease type 1C 1044 Charcot-Marie-Tooth disease type 1D 1045 Charcot-Marie-Tooth disease type 1E 1046 Charcot-Marie-Tooth disease type 1F 1047 Charcot-Marie-Tooth disease type 2A 1048 Charcot-Marie-Tooth disease type 2B 1049 Charcot-Marie-Tooth disease type 2B1 1050 Charcot-Marie-Tooth disease type 2B2
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 and 24: 857 Camurati-Engelmann disease 858
Page 25: 937 Cataract, autosomal recessive c
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
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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
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
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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
Page 107 and 108:
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
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4451 Osteopetrosis autosomal domina
Page 117 and 118:
4531 Papular urticaria 4532 Paracoc
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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
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5003 Radiation induced cancer 5004
Page 131 and 132:
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
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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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