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

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1985 Egg shaped pupils 1986 Ehlers-Danlos syndrome 1987 Ehlers-Danlos syndrome arthrochalasia type 1988 Ehlers-Danlos syndrome Beasley Cohen type 1989 Ehlers-Danlos syndrome dermatosparaxis type 1990 Ehlers-Danlos syndrome dysfibronectinemic type 1991 Ehlers-Danlos syndrome hypermobility type 1992 Ehlers-Danlos syndrome kyphoscoliotic type 1993 Ehlers-Danlos syndrome progeroid type 1994 Ehlers-Danlos syndrome type 5 1995 Ehlers-Danlos syndrome vascular type 1996 Ehlers-Danlos syndrome, classic type 1997 Ehlers-Danlos-like syndrome due to tenascin-X deficiency 1998 Ehrlichiosis 1999 Eisenmenger syndrome 2000 Elastosis perforans serpiginosa 2001 Elective mutism 2002 Elliott Ludman Teebi syndrome 2003 Ellis Yale Winter syndrome 2004 Ellis-Van Creveld syndrome 2005 Emanuel syndrome 2006 Embryonal carcinoma 2007 Embryonal sarcoma 2008 Emerinopathy 2009 Emery-Dreifuss muscular dystrophy 2010 Emery-Dreifuss muscular dystrophy, dominant type 2011 Emery-Dreifuss muscular dystrophy, X-linked 2012 Empty sella syndrome 2013 Enamel hypoplasia cataract hydrocephaly 2014 Encephalitis lethargica 2015 Encephalocele 2016 Encephalocele anencephaly 2017 Encephalocraniocutaneous lipomatosis 2018 Encephalomyopathy 2019 Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration 2020 Encephalopathy recurrent of childhood 2021 Enchondroma 2022 Enchondromatosis dwarfism deafness 2023 Endemic Kaposi sarcoma
2024 Endocardial fibroelastosis 2025 Endolymphatic sac tumor 2026 Endometrial stromal sarcoma 2027 Endomyocardial fibroelastosis 2028 Endomyocardial fibrosis 2029 Eng Strom syndrome 2030 Engelhard Yatziv syndrome 2031 Enlarged vestibular aqueduct syndrome 2032 Enolase deficiency type 1 2033 Enolase deficiency type 2 2034 Enolase deficiency type 3 2035 Enolase deficiency type 4 2036 Enterobiasis 2037 Enteropathica 2038 Enteropathy-associated T-cell lymphoma 2039 Enterovirus antenatal infection 2040 Enthesitis-related juvenile idiopathic arthritis 2041 Envenomization by bothrops lanceolatus 2042 Eosinophilia-myalgia syndrome 2043 Eosinophilic cryptitis 2044 Eosinophilic cystitis 2045 Eosinophilic enteropathy 2046 Eosinophilic fasciitis 2047 Eosinophilic pustular folliculitis 2048 Ependymoblastoma 2049 Ependymoma 2050 Epidermal nevus vitamin D resistant rickets 2051 Epidermodysplasia verruciformis 2052 Epidermolysa bullosa simplex with muscular dystrophy 2053 Epidermolysis bullosa 2054 Epidermolysis bullosa acquisita 2055 Epidermolysis bullosa simplex 2056 Epidermolysis bullosa simplex with mottled pigmentation 2057 Epidermolysis bullosa simplex, Dowling-Meara type 2058 Epidermolysis bullosa simplex, generalized 2059 Epidermolysis bullosa simplex, localized 2060 Epidermolysis bullosa simplex, Ogna type 2061 Epidermolysis bullosa, late-onset localized junctional, with mental retardation 2062 Epidermolysis bullosa, lethal acantholytic
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: 1946 EAF 1947 Eagle syndrome 1948 E
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 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
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Table 4: List of Rare Diseases and Related Terms as per US ...

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