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

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275 Amelogenesis imperfecta pigmented hypomaturation type 276 Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 277 Ameloonychohypohidrotic syndrome 278 Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis 279 Aminoaciduria 280 Aminoacylase 1 deficiency 281 Aminolevulinate dehydratase deficiency porphyria 282 Amish lethal microcephaly 283 Amniotic band syndrome 284 Ampola syndrome 285 Amyloid neuropathy 286 Amyloidosis AA 287 Amyloidosis Beta2M 288 Amyloidosis bronchopulmonary 289 Amyloidosis cerebral 290 Amyloidosis corneal 291 Amyloidosis familial visceral 292 Amyloidosis Finnish type 293 Amyloidosis nodular localized cutaneous 294 Amyloidosis of gingiva and conjunctiva, with mental retardation 295 Amyloidosis primary cutaneous 296 Amyopathic dermatomyositis 297 Amyoplasia mandibulofacial dysostosis 298 Amyotonia congenita 299 Amyotrophic lateral sclerosis 300 Amyotrophic lateral sclerosis type 10 301 Amyotrophic lateral sclerosis type 11 302 Amyotrophic lateral sclerosis type 2 303 Amyotrophic lateral sclerosis type 3 304 Amyotrophic lateral sclerosis type 4 305 Amyotrophic lateral sclerosis type 5 306 Amyotrophic lateral sclerosis type 6 307 Amyotrophic lateral sclerosis type 7 308 Amyotrophic lateral sclerosis type 8 309 Amyotrophic lateral sclerosis type 9 310 Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 311 Amyotrophy, neurogenic scapuloperoneal, New England type 312 Anal cancer
313 Anal sphincter dysplasia 314 Anaplastic astrocytoma 315 Anaplastic ependymoma 316 Anaplastic ganglioglioma 317 Anaplastic large cell lymphoma 318 Anaplastic oligoastrocytoma 319 Anaplastic oligodendroglioma 320 Anaplastic plasmacytoma 321 Anaplastic small cell lymphoma 322 Anauxetic dysplasia 323 Ancylostomiasis 324 Andermann syndrome 325 Andersen-Tawil syndrome 326 Androgen insensitivity syndrome 327 Androgen insensitivity syndrome, mild 328 Androgen insensitivity syndrome, partial 329 Anemia due to Adenosine triphosphatase deficiency 330 Anemia sideroblastic and spinocerebellar ataxia 331 Anencephaly 332 Anencephaly and spina bifida X-linked 333 Aneurysm of sinus of Valsalva 334 Aneurysm, intracranial berry, 2 335 Aneurysmal bone cysts 336 Angel shaped phalangoepiphyseal dysplasia 337 Angelman syndrome 338 Angiofollicular ganglionic hyperplasia 339 Angiofollicular lymph hyperplasia 340 Angioimmunoblastic lymphadenopathy with dysproteinemia 341 Angiokeratoma mental retardation coarse face 342 Angioma hereditary neurocutaneous 343 Angioma serpiginosum, autosomal dominant 344 Angioma serpiginosum, X-linked 345 Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert 346 Angiomatosis, leptomeningeal capillary venous 347 Angiomatous lymphoid hamartoma 348 Angiomyomatous Hamartoma 349 Angiosarcoma of the breast 350 Angiosarcoma of the liver 351 Angiosarcoma of the scalp
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: 235 Alopecia mental retardation syn
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
Page 57 and 58: 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
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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
Page 127 and 128:
4923 Pseudopelade of Brocq 4924 Pse
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5003 Radiation induced cancer 5004
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5079 Restless legs syndrome, suscep
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5157 Rhizomelic syndrome 5158 RHYNS
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5237 Sacral defect with anterior me
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5317 Seckel syndrome 5318 Secretory
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5391 Short stature, cranial hyperos
Page 141 and 142:
5470 Spastic ataxia Charlevoix-Sagu
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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
Page 153 and 154:
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
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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