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

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37 Aceruloplasminemia 38 Acetyl CoA acetyltransferase 2 deficiency 39 Acetyl-carnitine deficiency 40 Achalasia 41 Achalasia microcephaly syndrome 42 Achalasia, familial esophageal 43 Achard syndrome 44 Achard Thiers syndrome 45 Acheiropody 46 Achondrogenesis 47 Achondrogenesis type 1A 48 Achondrogenesis type 1B 49 Achondrogenesis type 2 50 Achondroplasia 51 Achondroplasia and severe combined immunodeficiency 52 Achondroplasia and Swiss type agammaglobulinemia 53 Achromatopsia 2 54 Achromatopsia 3 55 Acinic cell carcinoma 56 Acitretin embryopathy 57 Ackerman syndrome 58 Acoustic neuroma 59 Acquired agranulocytosis 60 Acquired angioedema 61 Acquired fructose intolerance 62 Acquired hemophilia 63 Acquired hypoprothrombinemia 64 Acquired pure red cell aplasia 65 Acquired Von Willebrand syndrome 66 Acral dysostosis dyserythropoiesis syndrome 67 Acral lentiginous melanoma 68 Acro coxo mesomelic dysplasia 69 Acrocallosal syndrome, Schinzel type 70 Acrocapitofemoral dysplasia 71 Acrocephalopolydactylous dysplasia 72 Acrocephalopolydactyly 73 Acrodermatitis 74 Acrodermatitis enteropathica 75 Acrodysostosis 76 Acrodysplasia scoliosis
77 Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia 78 Acrofacial dysostosis Catania type 79 Acrofacial dysostosis Palagonia type 80 Acrofacial dysostosis Preis type 81 Acrofacial dysostosis Rodriguez type 82 Acrofrontofacionasal dysostosis syndrome 83 Acrogeria, Gottron type 84 Acrokeratoelastoidosis of Costa 85 Acromegaloid changes, cutis verticis gyrata and corneal leukoma 86 Acromegaloid facial appearance syndrome 87 Acromegaloid features, overgrowth, cleft palate and hernia 88 Acromegaloid hypertrichosis syndrome 89 Acromegaly 90 Acromelanosis 91 Acromelic frontonasal dysostosis 92 Acromesomelic dysplasia 93 Acromesomelic dysplasia Campailla Martinelli type 94 Acromesomelic dysplasia Hunter Thompson type 95 Acromesomelic dysplasia Maroteaux type 96 Acromicric dysplasia 97 Acroosteolysis dominant type 98 Acropectoral syndrome 99 Acro-pectoro-renal field defect 100 Acropectorovertebral dysplasia F form 101 Acrorenal mandibular syndrome 102 Acrorenal syndrome recessive 103 Acrospiroma 104 ACTH-independent macronodular adrenal hyperplasia 105 Actinic cheilitis 106 Actinomycosis 107 Acute articular rheumatism 108 Acute biphenotypic leukemia 109 Acute cholinergic dysautonomia 110 Acute disseminated encephalomyelitis 111 Acute erythroblastic leukemia 112 Acute erythroid leukemia 113 Acute fatty liver of pregnancy 114 Acute febrile neutrophilic dermatosis 115 Acute graft versus host disease
Page 1: Table 4: List of Rare Diseases and
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 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
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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
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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
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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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