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

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116 Acute hemorrhagic leukoencephalitis 117 Acute intermittent porphyria 118 Acute lymphoblastic leukemia 119 Acute lymphoblastic leukemia congenital sporadic aniridia 120 Acute lymphoblastic leukemia, childhood 121 Acute megakaryoblastic leukemia 122 Acute monoblastic leukemia 123 Acute mountain sickness 124 Acute myeloblastic leukemia type 1 125 Acute myeloblastic leukemia type 2 126 Acute myeloblastic leukemia type 3 127 Acute myeloblastic leukemia type 4 128 Acute myeloblastic leukemia type 5 129 Acute myeloblastic leukemia type 6 130 Acute myeloblastic leukemia type 7 131 Acute myeloblastic leukemia with maturation 132 Acute myeloblastic leukemia without maturation 133 Acute myelocytic leukemia 134 Acute myeloid leukemia, adult 135 Acute myeloid leukemia, childhood 136 Acute myelomonocytic leukemia 137 Acute necrotizing ulcerative gingivitis 138 Acute non lymphoblastic leukemia 139 Acute promyelocytic leukemia 140 Acute respiratory distress syndrome 141 Acute zonal occult outer retinopathy 142 Adactylia unilateral 143 Adams Oliver syndrome 144 Addison's disease 145 Adducted thumb and clubfoot syndrome 146 Adducted thumbs Dundar type 147 Adenine phosphoribosyltransferase deficiency 148 Adenoameloblastoma 149 Adenocarcinoid tumor 150 Adenocarcinoma of lung 151 Adenocarcinoma of the appendix 152 Adenoid cystic carcinoma 153 Adenoma of the adrenal gland 154 Adenomyosis 155 Adenosarcoma of the uterus
156 Adenosine deaminase deficiency 157 Adenosine monophosphate deaminase 1 deficiency 158 Adenylosuccinase deficiency 159 Adie syndrome 160 Adiposis dolorosa 161 Adnexal spiradenoma/cylindroma of a sweat gland 162 Adrenal cancer 163 Adrenal medulla cancer 164 Adrenocortical carcinoma 165 Adrenoleukodystrophy X-linked 166 Adrenomyeloneuropathy 167 Adrenomyodystrophy 168 Adult neuronal ceroid lipofuscinosis 169 Adult progressive spinal muscular atrophy Aran Duchenne type 170 ADULT syndrome 171 Adult-onset citrullinemia type II 172 Adult-onset vitelliform macular dystrophy 173 Advanced sleep phase syndrome, familial 174 Aerobic actinomyces infection 175 Afibrinogenemia 176 Agammaglobulinemia X-linked type 2 177 Agammaglobulinemia, microcephaly, and severe dermatitis 178 Agammaglobulinemia, non-Bruton type 179 Aganglionosis, total intestinal 180 AGAT deficiency 181 Agenesis of the dorsal pancreas 182 Aggressive NK cell leukemia 183 Aglossia and Situs Inversus 184 Agnathia-microstomia-synotia 185 Agnosia 186 Agyria pachygyria polymicrogyria 187 Agyria-pachygyria type 1 188 Ahumada Del Castillo syndrome 189 Aicardi syndrome 190 Aicardi-Goutieres syndrome 191 Aicardi-Goutieres syndrome type 1 192 Aicardi-Goutieres syndrome type 2 193 Aicardi-Goutieres syndrome type 3 194 Aicardi-Goutieres syndrome type 4 195 Aicardi-Goutieres syndrome type 5
Page 1 and 2: Table 4: List of Rare Diseases and
Page 3: 77 Acrodysplasia with ossification
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 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
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2181 Familial exudative vitreoretin
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2260 Fetal brain disruption sequenc
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2338 Frank Ter Haar syndrome 2339 F
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2418 Gay Feinmesser Cohen syndrome
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2497 Glucocorticoid resistance 2498
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2577 Gray platelet syndrome 2578 Gr
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2656 Hemicrania continua 2657 Hemif
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2734 Hereditary nodular heterotopia
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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
Page 87 and 88:
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
Page 123 and 124:
4766 Pontocerebellar hypoplasia typ
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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
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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