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

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4095 Myofibrillar myopathy 4096 Myoglobinuria dominant form 4097 Myoglobinuria recurrent 4098 Myokymia with neonatal epilepsy 4099 Myopathic carnitine deficiency 4100 Myopathy congenital 4101 Myopathy congenital multicore with external ophthalmoplegia 4102 Myopathy growth and mental retardation hypospadias 4103 Myopathy mitochondrial cataract 4104 Myopathy with lysis of myofibrils 4105 Myopathy, limb-girdle, with bone fragility 4106 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 4107 Myopia 6 4108 Myostatin-related muscle hypertrophy 4109 Myotonia atrophica 4110 Myotonia congenita autosomal dominant 4111 Myotonia congenita autosomal recessive 4112 Myotonia mental retardation skeletal anomalies 4113 Myotonic dystrophy 4114 Myotonic dystrophy type 1 4115 Myotonic dystrophy type 2 4116 Myotubular myopathy 4117 Myxoid liposarcoma 4118 Myxoma-spotty pigmentation-endocrine overactivity 4119 Myxopapillary ependymoma 4120 Myxozoa 4121 N acetyltransferase deficiency 4122 N syndrome 4123 Nablus mask-like facial syndrome 4124 N-acetyl-alpha-D-galactosaminidase deficiency type III 4125 N-acetylglutamate synthetase deficiency 4126 NADH cytochrome B5 reductase deficiency 4127 Naegeli syndrome 4128 Nager acrofacial dysostosis 4129 Naguib-Richieri-Costa syndrome 4130 Nail dysplasia, isolated congenital 4131 Nail patella syndrome 4132 Nakajo Nishimura syndrome 4133 Nakajo syndrome
4134 Nance-Horan syndrome 4135 Narcolepsy 4136 Narrow oral fissure short stature cone shaped epiphyses 4137 Nasal cavity cancer, childhood 4138 Nasal polyposis, familial 4139 Nasodigitoacoustic syndrome 4140 Nasopalpebral lipoma coloboma syndrome 4141 Nasopharyngeal cancer, childhood 4142 Nasopharyngeal carcinoma 4143 Natal teeth, intestinal pseudoobstruction and patent ductus 4144 Nathalie syndrome 4145 Native American myopathy 4146 Naxos disease 4147 Necrobiotic xanthogranuloma 4148 Necrotizing enterocolitis 4149 Necrotizing fasciitis 4150 Negative rheumatoid factor polyarthritis 4151 Neisseria meningitidis infection 4152 Nelson syndrome 4153 Nemaline myopathy 1 4154 Nemaline myopathy 2 4155 Nemaline myopathy 3 4156 Nemaline myopathy 4 4157 Nemaline myopathy 5 4158 Nemaline myopathy 6 4159 Neonatal adrenoleukodystrophy 4160 Neonatal hemochromatosis 4161 Neonatal herpes 4162 Neonatal hypothyroidism 4163 Neonatal intrahepatic cholestasis caused by citrin deficiency 4164 Neonatal meningitis 4165 Neonatal ovarian cyst 4166 Neonatal progeroid syndrome 4167 Neonatal stroke 4168 Neonatal systemic lupus erythematosus 4169 Nephrocalcinosis 4170 Nephrogenic diabetes insipidus 4171 Nephrogenic Systemic Fibrosis 4172 Nephronophthisis 1 4173 Nephronophthisis familial adult spastic quadriparesis
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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
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1868 Duane syndrome 1869 Duane synd
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1946 EAF 1947 Eagle syndrome 1948 E
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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 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: 4055 Myasthenia gravis 4056 Myasthe
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
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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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