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

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4806 Powell Buist Stenzel syndrome 4807 PPM-X syndrome 4808 Prader-Willi habitus, osteopenia, and camptodactyly 4809 Prader-Willi syndrome 4810 Prata Libéral Gonçalves syndrome 4811 Preaxial deficiency, postaxial polydactyly and hypospadias 4812 Precocious epileptic encephalopathy 4813 Precocious myoclonic encephalopathy 4814 Precocious puberty 4815 Precocious puberty, gonadotropin-dependent 4816 Preeyasombat Varavithya syndrome 4817 Prekallikrein deficiency, congenital 4818 Premature aging Okamoto type 4819 Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, an 4820 Premature ovarian failure, familial 4821 Presenile dementia, Kraepelin type 4822 Priapism 4823 Prieto X-linked mental retardation syndrome 4824 Primary agammaglobulinemia 4825 Primary amebic meningoencephalitis 4826 Primary angiitis of the central nervous system 4827 Primary basilar impression 4828 Primary biliary cirrhosis 4829 Primary carnitine deficiency 4830 Primary ciliary dyskinesia 4831 Primary cortisol resistance 4832 Primary effusion lymphoma 4833 Primary familial xanthomatosis with involvement and calcification of the adrenal galnds 4834 Primary gastrointestinal melanoma 4835 Primary hyperoxaluria type 1 4836 Primary hyperoxaluria type 2 4837 Primary hyperoxaluria type 3 4838 Primary lateral sclerosis 4839 Primary malignant lymphoma 4840 Primary malignant melanoma of the cervix 4841 Primary malignant melanoma of the conjunctiva 4842 Primary open angle glaucoma juvenile onset 1 4843 Primary orthostatic tremor
4844 Primary pigmented nodular adrenocortical disease 4845 Primary progressive aphasia 4846 Primary release disorder of platelets 4847 Primary sclerosing cholangitis 4848 Primary tubular proximal acidosis 4849 Primrose syndrome 4850 Prinzmetal's variant angina 4851 Procarcinoma 4852 Proconvertin deficiency, congenital 4853 Progeria 4854 Progeria variant syndrome Ruvalcaba type 4855 Progeroid short stature with pigmented nevi 4856 Progeroid syndrome Petty type 4857 Progeroid syndrome, Penttinen type 4858 Prognathism mandibular 4859 Progressive bifocal chorioretinal atrophy 4860 Progressive black carbon hyperpigmentation of infancy 4861 Progressive bulbar palsy 4862 Progressive familial heart block type 1A 4863 Progressive familial heart block type 1B 4864 Progressive familial heart block type 2 4865 Progressive hemifacial atrophy 4866 Progressive kinking of the hair, acquired 4867 Progressive multifocal leukoencephalopathy 4868 Progressive myoclonic epilepsy 4869 Progressive non-fluent aphasia 4870 Progressive osseous heteroplasia 4871 Progressive pseudorheumatoid arthropathy of childhood 4872 Progressive supranuclear palsy 4873 Progressive supranuclear palsy atypical 4874 Progressive transformation of germinal centers 4875 Prolactinoma, familial 4876 Prolerating trichilemmal cyst 4877 Prolidase deficiency 4878 Proopiomelanocortin deficiency 4879 Properdin deficiency 4880 Properdin deficiency, X-linked 4881 Propionic acidemia 4882 Prosencephaly cerebellar dysgenesis 4883 Prosopagnosia, hereditary
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Table 4: List of Rare Diseases and
Page 3 and 4:
77 Acrodysplasia with ossification
Page 5 and 6:
156 Adenosine deaminase deficiency
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235 Alopecia mental retardation syn
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313 Anal sphincter dysplasia 314 An
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389 Anterior segment mesenchymal dy
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467 Arthrogryposis renal dysfunctio
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542 Autosomal recessive neuronal ce
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621 Becker muscular dystrophy 622 B
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699 Blastoma 700 Blastomycosis 701
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777 Braddock Jones Superneau syndro
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857 Camurati-Engelmann disease 858
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937 Cataract, autosomal recessive c
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1012 Ceroid lipofuscinosis neuronal
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1090 Chitayat Meunier Hodgkinson sy
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1170 Chromosome 16p deletion 1171 C
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1249 Chronic atypical neutrophilic
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1325 Cochleosaccular degeneration o
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1404 Congenital aplastic anemia 140
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1482 Congenital nonprogressive myop
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1561 Cranioacrofacial syndrome 1562
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1641 Cutis laxa, autosomal recessiv
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1713 Deafness, autosomal dominant n
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1790 Diamond-Blackfan anemia 2 1791
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1868 Duane syndrome 1869 Duane synd
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1946 EAF 1947 Eagle syndrome 1948 E
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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
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
Page 81 and 82: 3121 Intravascular papillary endoth
Page 83 and 84: 3201 Juvenile Scleroderma 3202 Juve
Page 85 and 86: 3281 Kohlschutter Tonz syndrome 328
Page 87 and 88: 3360 Lattice corneal dystrophy type
Page 89 and 90: hypogammaglobulinema 3439 Leukoence
Page 91 and 92: 3517 Long QT syndrome 10 3518 Long
Page 93 and 94: 3594 Mal de debarquement 3595 Malak
Page 95 and 96: 3672 Maturity-onset diabetes of the
Page 97 and 98: 3750 Mental retardation arachnodact
Page 99 and 100: 3824 Methylmalonic acidemia with ho
Page 101 and 102: 3901 Mikulicz disease 3902 Miles-Ca
Page 103 and 104: 3977 Muckle-Wells syndrome 3978 Muc
Page 105 and 106: 4055 Myasthenia gravis 4056 Myasthe
Page 107 and 108: 4134 Nance-Horan syndrome 4135 Narc
Page 109 and 110: 4213 Neuromyelitis optica spectrum
Page 111 and 112: 4293 Nystagmus, hereditary vertical
Page 113 and 114: 4372 Optic atrophy 2 4373 Optic atr
Page 115 and 116: 4451 Osteopetrosis autosomal domina
Page 117 and 118: 4531 Papular urticaria 4532 Paracoc
Page 119 and 120: 4611 Pentosuria 4612 Penttinen-Aula
Page 121 and 122: 4688 Pilotto syndrome 4689 Pineal p
Page 123: 4766 Pontocerebellar hypoplasia typ
Page 127 and 128: 4923 Pseudopelade of Brocq 4924 Pse
Page 129 and 130: 5003 Radiation induced cancer 5004
Page 131 and 132: 5079 Restless legs syndrome, suscep
Page 133 and 134: 5157 Rhizomelic syndrome 5158 RHYNS
Page 135 and 136: 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
Page 159 and 160: 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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