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

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3862 Microcephaly, primary autosomal recessive 3863 Microcephaly, seizures, and developmental delay 3864 Microcephaly-albinism-digital anomalies syndrome 3865 Microcephaly-cardiomyopathy 3866 Microcoria, congenital 3867 Microcornea posterior megalolenticonus persistent fetal vasculature coloboma 3868 Microcornea corectopia macular hypoplasia 3869 Microcornea, glaucoma, and absent frontal sinuses 3870 Microcystic adnexal carcinoma 3871 Microdeletion 15q11.2 3872 Microdontia hypodontia short stature 3873 Microencephaly 3874 Microgastria limb reduction defect 3875 Microhydranencephaly 3876 Micromelic bone dysplasia with cloverleaf skull 3877 Microphthalmia associated with colobomatous cyst 3878 Microphthalmia cataract 3879 Microphthalmia mental deficiency 3880 Microphthalmia microtia fetal akinesia 3881 Microphthalmia syndromic 10 3882 Microphthalmia syndromic 3 3883 Microphthalmia syndromic 4 3884 Microphthalmia syndromic 5 3885 Microphthalmia syndromic 6 3886 Microphthalmia syndromic 7 3887 Microphthalmia syndromic 8 3888 Microphthalmia syndromic 9 3889 Microphthalmia, isolated, with corectopia 3890 Microscopic polyangiitis 3891 Microsomia hemifacial radial defects 3892 Microspherophakia with hernia 3893 Microsporidiosis 3894 Microtia eye coloboma and imperforation of the nasolacrimal duct 3895 Microtia, meatal atresia and conductive deafness 3896 Microtia-Anotia 3897 Microvillus inclusion disease 3898 Midline cleft of lower lip 3899 Midline lethal granuloma 3900 Midphalangeal hair
3901 Mikulicz disease 3902 Miles-Carpenter x-linked mental retardation syndrome 3903 Miller-Dieker syndrome 3904 Miller-Fisher syndrome 3905 Milner Khallouf Gibson syndrome 3906 Milroy disease 3907 Minicore myopathy with external ophthalmoplegia 3908 Minicore myopathy, antenatal onset, with arthrogryposis 3909 Minimal change disease 3910 Mirizzi syndrome 3911 Mirror polydactyly segmentation and limbs defects 3912 Mitochondrial complex I deficiency 3913 Mitochondrial complex II deficiency 3914 Mitochondrial complex III deficiency 3915 Mitochondrial complex IV deficiency 3916 Mitochondrial complex V deficiency 3917 Mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 3918 Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 3919 Mitochondrial genetic disorders 3920 Mitochondrial myopathy with diabetes 3921 Mitochondrial myopathy with lactic acidosis 3922 Mitochondrial neurogastrointestinal encephalopathy syndrome 3923 Mitochondrial trifunctional protein deficiency 3924 Mitral atresia 3925 Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones 3926 Mitral valve prolapse, familial, autosomal dominant 3927 Mitral valve prolapse, familial, X-linked 3928 Miura syndrome 3929 Mixed connective tissue disease 3930 Mixed sclerosing bone dystrophy 3931 Miyoshi myopathy 3932 Moebius axonal neuropathy hypogonadism 3933 Moebius syndrome 3934 Mohr-Tranebjaerg syndrome 3935 Mollaret meningitis 3936 Moloney syndrome 3937 Molybdenum cofactor deficiency
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Table 4: List of Rare Diseases and
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77 Acrodysplasia with ossification
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156 Adenosine deaminase deficiency
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235 Alopecia mental retardation syn
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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
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621 Becker muscular dystrophy 622 B
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699 Blastoma 700 Blastomycosis 701
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777 Braddock Jones Superneau syndro
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857 Camurati-Engelmann disease 858
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937 Cataract, autosomal recessive c
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1012 Ceroid lipofuscinosis neuronal
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1090 Chitayat Meunier Hodgkinson sy
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1170 Chromosome 16p deletion 1171 C
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1249 Chronic atypical neutrophilic
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1325 Cochleosaccular degeneration o
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1404 Congenital aplastic anemia 140
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1482 Congenital nonprogressive myop
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1561 Cranioacrofacial syndrome 1562
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1641 Cutis laxa, autosomal recessiv
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1713 Deafness, autosomal dominant n
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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 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: 3824 Methylmalonic acidemia with ho
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
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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
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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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