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

Recommendations

Info

3161 Jensen syndrome 3162 Jervell and Lange-Nielsen syndrome 2 3163 Jervell Lange-Nielsen syndrome 3164 Jeune syndrome 3165 Jeune syndrome situs inversus 3166 JMP syndrome 3167 Johanson Blizzard syndrome 3168 Johnson Hall Krous syndrome 3169 Johnson Munson syndrome 3170 Johnson neuroectodermal syndrome 3171 Johnston Aarons Schelley syndrome 3172 Joint laxity, familial 3173 Jones Hersh Yusk syndrome 3174 Jones syndrome 3175 Jorgenson Lenz syndrome 3176 Joubert syndrome 3177 Joubert syndrome 2 3178 Joubert syndrome with ocular anomalies 3179 Joubert syndrome with oculorenal anomalies 3180 Joubert syndrome with renal anomalies 3181 Juberg Marsidi syndrome 3182 Juberg-Hayward syndrome 3183 Judge Misch Wright syndrome 3184 Jumping Frenchmen of Maine 3185 Junctional epidermolysis bullosa 3186 Junctional epidermolysis bullosa inversa 3187 Junctional epidermolysis bullosa with pyloric atresia 3188 Junctional epidermolysis bullosa, Herlitz type 3189 Junctional epidermolysis bullosa, non-Herlitz type 3190 Jung Wolff Back Stahl syndrome 3191 Juvenile dermatomyositis 3192 Juvenile Huntington disease 3193 Juvenile hyaline fibromatosis 3194 Juvenile macular degeneration and hypotrichosis 3195 Juvenile myelomonocytic leukemia 3196 Juvenile myoclonic epilepsy 3197 Juvenile osteoporosis 3198 Juvenile polyposis syndrome 3199 Juvenile primary lateral sclerosis 3200 Juvenile retinoschisis
3201 Juvenile Scleroderma 3202 Juvenile temporal arteritis 3203 Juvenile-onset dystonia 3204 Kabuki syndrome 3205 Kallikrein hypertension 3206 Kallmann syndrome 3207 Kallmann syndrome 1 3208 Kallmann syndrome 2 3209 Kallmann syndrome 3 3210 Kallmann syndrome 4 3211 Kallmann syndrome 5 3212 Kallmann syndrome 6 3213 Kanzaki disease 3214 Kaolin pneumoconiosis 3215 Kaplan Plauchu Fitch syndrome 3216 Kaplowitz Bodurtha syndrome 3217 Kaposiform Hemangioendothelioma 3218 Kapur Toriello syndrome 3219 Karak syndrome 3220 Karandikar Maria Kamble syndrome 3221 Kartagener syndrome 3222 Kashani Strom Utley syndrome 3223 Kasznica Carlson Coppedge syndrome 3224 Katsantoni Papadakou Lagoyanni syndrome 3225 Kaufman oculocerebrofacial syndrome 3226 Kawasaki syndrome 3227 KBG syndrome 3228 Kearns Sayre syndrome 3229 Kennedy disease 3230 Kennerknecht Vogel syndrome 3231 Kenny-Caffey syndrome type 1 3232 Kenny-Caffey syndrome type 2 3233 Keratitis, hereditary 3234 Keratoconus 3235 Keratoconus posticus circumscriptus 3236 Keratoderma palmoplantar deafness 3237 Keratoderma palmoplantar spastic paralysis 3238 Keratoderma palmoplantaris transgrediens 3239 Keratolytic winter erythema 3240 Keratomalacia
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 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
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: 3121 Intravascular papillary endoth
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?