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

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3785 Mental retardation-polydactyly-uncombable hair 3786 Meralgia paresthetica 3787 Mercury poisoning 3788 Merkel cell carcinoma 3789 Merlob Grunebaum Reisner syndrome 3790 Mesangial proliferative glomerulonephritis 3791 Mesenteric artery ischemia 3792 Mesomelia 3793 Mesomelia-synostoses syndrome 3794 Mesomelic dwarfism cleft palate camptodactyly 3795 Mesomelic dwarfism of hypoplastic tibia and radius type 3796 Mesomelic dysplasia Kantaputra type 3797 Mesomelic dysplasia Savarirayan type 3798 Mesomelic dysplasia skin dimples 3799 Metacarpals 4 and 5 fusion 3800 Metachondromatosis 3801 Metachromatic leukodystrophy 3802 Metachromatic leukodystrophy due to saposin B deficiency 3803 Metagonimiasis 3804 Metaphyseal acroscyphodysplasia 3805 Metaphyseal anadysplasia 3806 Metaphyseal chondrodysplasia Schmid type 3807 Metaphyseal chondrodysplasia Spahr type 3808 Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands 3809 Metaphyseal chondrodysplasia, others 3810 Metaphyseal dysostosis mental retardation conductive deafness 3811 Metaphyseal dysplasia maxillary hypoplasia brachydactyly 3812 Metaphyseal dysplasia without hypotrichosis 3813 Metaphyseal undermodeling, spondylar dysplasia, and overgrowth 3814 Metaplastic carcinoma of the breast 3815 Metastatic insulinoma 3816 Metastatic squamous neck cancer with occult primary 3817 Metatropic dysplasia 3818 Methimazole antenatal infection 3819 Methionine adenosyltransferase deficiency 3820 Methyl mercury antenatal infection 3821 Methylcobalamin deficiency cbl G type 3822 Methylcobalamin deficiency, cbl E complementation type 3823 Methylmalonic acidemia
3824 Methylmalonic acidemia with homocystinuria 3825 Methylmalonic aciduria cblA type 3826 Methylmalonic aciduria cblB type 3827 Methylmalonic aciduria microcephaly cataract 3828 Methylmalonic aciduria with homocystinuria cbl f 3829 Methylmalonicacidemia with homocystinuria cbl d 3830 Methylmalonyl-Coenzyme A mutase deficiency 3831 Mevalonic aciduria 3832 MHC class 1 deficiency 3833 Michelin tire baby syndrome 3834 Michels Caskey syndrome 3835 Michels syndrome 3836 Mickleson syndrome 3837 Microbrachycephaly ptosis cleft lip 3838 Microcephalic osteodysplastic primordial dwarfism type 1 3839 Microcephalic osteodysplastic primordial dwarfism type 2 3840 Microcephalic primordial dwarfism Toriello type 3841 Microcephaly 3842 Microcephaly autosomal dominant 3843 Microcephaly brain defect spasticity hypernatremia 3844 Microcephaly cervical spine fusion anomalies 3845 Microcephaly chorioretinopathy recessive form 3846 Microcephaly deafness syndrome 3847 Microcephaly glomerulonephritis Marfanoid habitus 3848 Microcephaly hypergonadotropic hypogonadism short stature 3849 Microcephaly microcornea syndrome Seemanova type 3850 Microcephaly micropenis convulsions 3851 Microcephaly microphthalmos blindness 3852 Microcephaly nonsyndromal 3853 Microcephaly pontocerebellar hypoplasia dyskinesia 3854 Microcephaly seizures mental retardation heart disorders 3855 Microcephaly sparse hair mental retardation seizures 3856 Microcephaly with chorioretinopathy, autosomal dominant form 3857 Microcephaly with spastic quadriplegia 3858 Microcephaly, corpus callosum dysgenesis and cleft lip-palate 3859 Microcephaly, hiatal hernia and nephrotic syndrome 3860 Microcephaly, holoprosencephaly, and intrauterine growth retardation 3861 Microcephaly, postnatal progressive, with seizures and brain atrophy
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Table 4: List of Rare Diseases and
Page 3 and 4:
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
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 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: 3750 Mental retardation arachnodact
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
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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
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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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