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

Recommendations

Info

2063 Epidermolysis bullosa, pretibial 2064 Epidermolytic hyperkeratosis 2065 Epilepsy benign neonatal dominant form 2066 Epilepsy benign neonatal recessive form 2067 Epilepsy juvenile absence 2068 Epilepsy mental deterioration Finnish type 2069 Epilepsy occipital calcifications 2070 Epilepsy progressive myoclonic type 3 2071 Epilepsy telangiectasia 2072 Epilepsy, benign occipital 2073 Epilepsy, female restricted, with mental retardation 2074 Epilepsy, nocturnal, frontal lobe type 2075 Epilepsy, partial, familial 2076 Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp 2077 Epileptic encephalopathy Lennox-Gastaut type 2078 Epimetaphyseal dysplasia cataract 2079 Epimetaphyseal skeletal dysplasia 2080 Epiphyseal dysplasia dysmorphism camptodactyly 2081 Epiphyseal dysplasia hearing loss dysmorphism 2082 Epiphyseal dysplasia multiple with early-onset diabetes mellitus 2083 Episodic ataxia 2084 Episodic ataxia with nystagmus 2085 Epithelial basement membrane corneal dystrophy 2086 Epithelial-myoepithelial carcinoma 2087 Epithelioid sarcoma 2088 Epitheliopathy, acute posterior multifocal placoid pigment 2089 Erdheim-Chester disease 2090 Ermine phenotype 2091 Erosive pustular dermatosis of the scalp 2092 Erysipelas 2093 Erythema elevatum diutinum 2094 Erythema multiforme 2095 Erythema nodosum, idiopathic 2096 Erythroderma desquamativa of Leiner 2097 Erythroderma lethal congenital 2098 Erythrokeratodermia variabilis et progressiva 2099 Erythromelalgia 2100 Erythroplakia 2101 Erythropoietic protoporphyria
2102 Erythropoietic uroporphyria associated with myeloid malignancy 2103 Escher Hirt syndrome 2104 Escobar syndrome, type B 2105 Esophageal atresia 2106 Esophageal atresia coloboma talipes 2107 Esophageal cancer 2108 Esophageal cancer, childhood 2109 Esophageal varices 2110 Esotropia 2111 Essential thrombocythemia 2112 Essential tremor 2113 Esthesioneuroblastoma 2114 Ethylmalonic encephalopathy 2115 Eunuchoidism familial hypogonadotropic 2116 Evans syndrome 2117 Ewing's family of tumors 2118 Ewing's sarcoma 2119 Exencephaly 2120 Exercise induced anaphylaxis 2121 Exercise-induced hyperinsulinemic hypoglycemia 2122 Exertional headache 2123 Exfoliative dermatitis 2124 Exogenous lipoid pneumonia 2125 Exogenous ochronosis 2126 Exostoses anetodermia brachydactyly type E 2127 Exostoses, multiple, type 1 2128 Exostoses, multiple, type 2 2129 Exostoses, multiple, type 3 2130 Exstrophy of the bladder 2131 Exstrophy of the bladder-epispadias 2132 Exsudative retinopathy familial, autosomal dominant 2133 Exsudative retinopathy familial, autosomal recessive 2134 Exsudative retinopathy familial, X-linked, recessive 2135 Exsudative retinopathy, familial 2136 Extracranial germ cell tumor, childhood 2137 Extragonadal germ cell tumor 2138 Extrasystoles short stature hyperpigmentation microcephaly 2139 Eyebrows duplication of, with stretchable skin and syndactyly 2140 Fabry disease 2141 FACES syndrome
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 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: 2024 Endocardial fibroelastosis 202
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
Page 63 and 64: 2418 Gay Feinmesser Cohen syndrome
Page 65 and 66: 2497 Glucocorticoid resistance 2498
Page 67 and 68: 2577 Gray platelet syndrome 2578 Gr
Page 69 and 70: 2656 Hemicrania continua 2657 Hemif
Page 71 and 72: 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 and 124:
4766 Pontocerebellar hypoplasia typ
Page 125 and 126:
4844 Primary pigmented nodular adre
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
show all

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

Create successful ePaper yourself

Delete template?

Save as template?