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

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3009 Ichthyosis prematurity syndrome 3010 Ichthyosis tapered fingers midline groove up 3011 Ichthyosis vulgaris 3012 Ichthyosis with hypotrichosis, autosomal recessive 3013 Ichthyosis, acquired 3014 Ichthyosis, erythrokeratolysis hemalis 3015 Ichthyosis, follicular 3016 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 3017 Ichthyosis, mental retardation, dwarfism and renal impairment 3018 Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin 3019 Idiopathic acute eosinophilic pneumonia 3020 Idiopathic adolescent scoliosis 3021 Idiopathic alveolar hypoventilation syndrome 3022 Idiopathic basal ganglia calcification childhood-onset 3023 Idiopathic diffuse interstitial fibrosis 3024 Idiopathic dilatation of the pulmonary artery 3025 Idiopathic double athetosis 3026 Idiopathic eosinophilic chronic pneumopathy 3027 Idiopathic juxtafoveal retinal telangiectasia 3028 Idiopathic myopathy 3029 Idiopathic pulmonary fibrosis 3030 Idiopathic pulmonary hemosiderosis 3031 Idiopathic pulmonary hypertension 3032 Idiopathic spinal cord herniation 3033 Idiopathic subglottic tracheal stenosis 3034 Idiopathic thrombocytopenic purpura 3035 Iida Kannari syndrome 3036 IL12RB1 deficiency 3037 Illum syndrome 3038 Imaizumi Kuroki syndrome 3039 Imerslund-Grasbeck syndrome 3040 Iminoglycinuria 3041 Immotile cilia syndrome, due to defective radial spokes 3042 Immune defect due to absence of thymus 3043 Immune deficiency, familial variable 3044 Immune dysfunction with T-cell inactivation due to calcium entry defect 1
3045 Immune dysfunction with T-cell inactivation due to calcium entry defect 2 3046 Immune thrombocytopenia 3047 Immunodeficiency with hyper IgM type 1 3048 Immunodeficiency with hyper IgM type 2 3049 Immunodeficiency with hyper IgM type 3 3050 Immunodeficiency with hyper IgM type 4 3051 Immunodeficiency with hyper IgM type 5 3052 Immunodeficiency without anhidrotic ectodermal dysplasia 3053 Immunodeficiency, microcephaly with normal intelligence 3054 Immunodysregulation, polyendocrinopathy and enteropathy Xlinked 3055 Immunoglobulin A deficiency 2 3056 Impairment of oral perception 3057 Imperforate anus 3058 Imperforate oropharynx-costo vetebral anomalies 3059 Inborn amino acid metabolism disorder 3060 Inborn renal aminoaciduria 3061 Inclusion body myopathy 2 3062 Inclusion body myopathy 3 3063 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 3064 Inclusion body myositis 3065 Inclusion conjunctivitis 3066 Incontinentia pigmenti 3067 Indolent B cell lymphoma 3068 Indomethacin antenatal infection 3069 Infant epilepsy with migrant focal crisis 3070 Infantile apnea 3071 Infantile axonal neuropathy 3072 Infantile convulsions and paroxysmal choreoathetosis, familial 3073 Infantile digital fibromatosis 3074 Infantile free sialic acid storage disease 3075 Infantile histiocytoid cardiomyopathy 3076 Infantile myofibromatosis 3077 Infantile onset spinocerebellar ataxia 3078 Infantile Parkinsonism-dystonia 3079 Infantile recurrent chronic multifocal osteomyolitis 3080 Infantile scoliosis 3081 Infantile spasms broad thumbs
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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
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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
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: 2970 Hypopituitarism postaxial poly
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
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5003 Radiation induced cancer 5004
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5079 Restless legs syndrome, suscep
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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
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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
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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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