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

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352 Angiostrongyliasis 353 Aniridia 354 Aniridia absent patella 355 Aniridia ataxia renal agenesis psychomotor retardation 356 Aniridia mental retardation syndrome 357 Aniridia ptosis mental retardation obesity familial 358 Aniridia renal agenesis psychomotor retardation 359 Aniridia, cerebellar ataxia and mental deficiency 360 Anisakiasis 361 Ankle defects short stature 362 Ankyloblepharon filiforme adnatum cleft palate 363 Ankyloblepharon filiforme imperforate anus 364 Ankylosis of teeth 365 Annular constricting bands 366 Annular pancreas 367 Anodontia 368 Anomalous origin of right pulmonary artery familial 369 Anonychia congenita 370 Anonychia ectrodactyly 371 Anonychia onychodystrophy 372 Anonychia total with microcephaly 373 Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly 374 Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 375 Anophthalmia cleft lip palate hypothalamic disorder 376 Anophthalmia cleft palate micrognathia 377 Anophthalmia esophageal atresia cryptorchidism 378 Anophthalmia megalocornea cardiopathy skeletal anomalies 379 Anophthalmia microcephaly hypogonadism 380 Anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies 381 Anophthalmia plus syndrome 382 Anophthalmos with limb anomalies 383 Anorchia 384 Anorectal atresia 385 Anotia facial palsy cardiac defect 386 Antecubital pterygium 387 Anterior pituitary insufficiency, familial 388 Anterior polar cataract 2
389 Anterior segment mesenchymal dysgenesis 390 Anterior spinal artery stroke 391 Anterior uveitis 392 Anthrax 393 Antigen-peptide-transporter 2 deficiency 394 Anti-HLA hyperimmunization 395 Antihypertensive drugs antenatal infection 396 Antiphospholipid syndrome 397 Anti-plasmin deficiency, congenital 398 Antisocial personality disorder 399 Antisynthetase syndrome 400 Antley Bixler syndrome 401 Anton's syndrome 402 Aorta-pulmonary artery fistula 403 Aortic aneurysm, familial thoracic 4 404 Aortic arch anomaly with peculiar facies and mental retardation 405 Aortic arch interruption 406 Aortic arches defect 407 Aortic coarctation 408 Aortic dissection lentiginosis 409 Aortic valve stenosis 410 Aortic valves stenosis of the child 411 Aortopulmonary window 412 Apert like polydactyly syndrome 413 Apert syndrome 414 Aphalangia partial with syndactyly and duplication of metatarsal IV 415 Aphthous stomatitis 416 Aplasia cutis autosomal recessive 417 Aplasia cutis congenita 418 Aplasia cutis congenita dominant 419 Aplasia cutis congenita intestinal lymphangiectasia 420 Aplasia cutis congenita of limbs recessive 421 Aplasia cutis congenita recessive 422 Aplasia cutis myopia 423 Aplastic anemia 424 Apo A-I deficiency 425 Apolipoprotein C 2I deficiency 426 Apparent mineralocorticoid excess 427 Apraxia
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: 313 Anal sphincter dysplasia 314 An
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
Page 59 and 60: 2260 Fetal brain disruption sequenc
Page 61 and 62:
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
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
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
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
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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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