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

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3082 Infantile striato thalamic degeneration 3083 Infantile-onset ascending hereditary spastic paralysis 3084 Infectious arthritis 3085 Infectious myocarditis 3086 Infective endocarditis 3087 Infective myositis 3088 Inflammatory breast cancer 3089 Inflammatory linear verrucous epidermal nevus 3090 Inflammatory myofibroblastic tumor 3091 Infundibulopelvic dysgenesis 3092 Inherited hypoprothrombinemia 3093 Inherited peripheral neuropathy 3094 Iniencephaly 3095 Insulin autoimmune syndrome 3096 Insulin-like growth factor 1 resistance to 3097 Insulin-like growth factor I deficiency 3098 Insulinoma 3099 Insulin-resistance type B 3100 Insulin-resistant acanthosis nigricans, type A 3101 Intellectual deficit - short stature - hypertelorism 3102 Intellectual deficit Buenos-Aires type 3103 Intellectual deficit unusual facies talipes hand anomalies 3104 Intercellular cholesterol esterification disease 3105 Interferon gamma, receptor 1, deficiency 3106 Intermediate severe Salla disease 3107 Internal carotid agenesis 3108 Intestinal atresia multiple 3109 Intestinal pseudo-obstruction 3110 Intestinal pseudoobstruction neuronal chronic idiopathic X-linked 3111 Intracranial aneurysms multiple congenital anomaly 3112 Intracranial arteriovenous malformation 3113 Intrahepatic cholangiocarcinoma 3114 Intrahepatic cholestasis of pregnancy 3115 Intraneural perineurioma 3116 Intraocular melanoma 3117 Intrathoracic kidney vertebral fusion 3118 Intrauterine growth retardation - mandibular malar hypoplasia 3119 Intrauterine growth retardation with increased mitomycin C sensitivity 3120 Intrauterine infections
3121 Intravascular papillary endothelial hyperplasia 3122 Intravenous leiomyomatosis 3123 Intrinsic factor deficiency 3124 Iodine antenatal infection 3125 IRAK4 deficiency 3126 Iridocorneal endothelial syndrome 3127 Iridogoniodysgenesis and skeletal anomalies 3128 Iridogoniodysgenesis type1 3129 Iridogoniodysgenesis, dominant type 3130 Iris coloboma with ptosis hypertelorism and mental retardation 3131 Iris dysplasia hypertelorism deafness 3132 Iris hypoplasia and glaucoma 3133 Iron-refractory iron deficiency anemia 3134 Irons Bhan syndrome 3135 Isaac's syndrome 3136 Ischiadic hypoplasia renal dysfunction immunodeficiency 3137 Isobutyryl-CoA dehydrogenase deficiency 3138 Isochromosome Yp 3139 Isodicentric chromosome 15 syndrome 3140 Isolated ACTH deficiency 3141 Isolated growth hormone deficiency type 1A 3142 Isolated growth hormone deficiency type 1B 3143 Isolated growth hormone deficiency type 2 3144 Isolated growth hormone deficiency type 3 3145 Isosporiasis 3146 Isotretinoin embryopathy like syndrome 3147 Isovaleric acidemia 3148 Isthmian coarctation 3149 ITCH E3 ubiquitin ligase deficiency 3150 Ivemark syndrome 3151 IVIC syndrome 3152 Jackson-Weiss syndrome 3153 Jacobsen syndrome 3154 Jaffer Beighton syndrome 3155 Jamaican vomiting sickness 3156 Jankovic Rivera syndrome 3157 Jansen type metaphyseal chondrodysplasia 3158 Japanese encephalitis 3159 Jejunal atresia 3160 Jejunal atresia with renal adysplasia
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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
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: 3045 Immune dysfunction with T-cell
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
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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
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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
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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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