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

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196 AIDS Dementia Complex 197 AIDS dysmorphic syndrome 198 Ainhum 199 Akaba Hayasaka syndrome 200 Akesson syndrome 201 Aksu von Stockhausen syndrome 202 AL amyloidosis 203 Al Gazali Aziz Salem syndrome 204 Al Gazali Khidr Prem Chandran syndrome 205 Al Gazali Sabrinathan Nair syndrome 206 Al Gazali syndrome 207 Alagille syndrome 208 Aland island eye disease 209 Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus 210 Albinism 211 Albinism deafness syndrome 212 Albinism immunodeficiency 213 Albinism ocular late onset sensorineural deafness 214 Albinism, minimal pigment type 215 Albright like syndrome 216 Albright's hereditary osteodystrophy 217 Aldred syndrome 218 Alexander disease 219 Al-Gazali-Donnai-Mueller syndrome 220 ALK+ histiocytosis 221 Alkaptonuria 222 Allain-Babin-Demarquez syndrome 223 Allan-Herndon-Dudley syndrome 224 Allergic angiitis 225 Allergic autoimmune thyroiditis 226 Allergic bronchopulmonary aspergillosis 227 Allergic encephalomyelitis 228 Aloi Tomasini Isaia syndrome 229 Alopecia congenita keratosis palmoplantaris 230 Alopecia contractures dwarfism mental retardation 231 Alopecia epilepsy oligophrenia syndrome of Moynahan 232 Alopecia immunodeficiency 233 Alopecia macular degeneration growth retardation 234 Alopecia mental retardation syndrome 1
235 Alopecia mental retardation syndrome 2 236 Alopecia universalis onychodystrophy vitiligo 237 Alopecia, epilepsy, pyorrhea, mental subnormality 238 Alpers syndrome 239 Alpha 1-antitrypsin deficiency 240 Alpha mannosidosis type 2 241 Alpha-2 deficient collagen disease 242 Alpha-ketoglutarate dehydrogenase deficiency 243 Alpha-mannosidosis type 1 244 Alpha-Thalassemia 245 Alpha-thalassemia x-linked intellectual disability syndrome 246 Alpha-thalassemia-abnormal morphogenesis 247 Alport syndrome 248 Alsing syndrome 249 ALS-like syndrome of encephalomyopathy 250 Alström syndrome 251 Alternating hemiplegia of childhood 252 Aluminium lung 253 Alveolar capillary dysplasia 254 Alveolar echinococcosis 255 Alveolar soft part sarcoma 256 Alveolitis, extrinsic allergic 257 Alzheimer disease familial 258 Alzheimer disease type 1 259 Alzheimer disease type 2 260 Alzheimer disease type 3 261 Alzheimer disease type 4 262 Alzheimer's disease without neurofibrillary tangles 263 Amaurosis congenita cone-rod type with congenital hypertrichosis 264 Amaurosis fugax 265 Ambras syndrome 266 Amebiasis 267 Amelia cleft lip palate hydrocephalus iris coloboma 268 Ameloblastic carcinoma 269 Amelogenesis imperfecta 270 Amelogenesis imperfecta hypomaturation type 271 Amelogenesis imperfecta hypoplastic type, IG 272 Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1 273 Amelogenesis imperfecta local hypoplastic 274 Amelogenesis imperfecta nephrocalcinosis
Page 1 and 2: Table 4: List of Rare Diseases and
Page 3 and 4: 77 Acrodysplasia with ossification
Page 5: 156 Adenosine deaminase deficiency
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 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
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2260 Fetal brain disruption sequenc
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2338 Frank Ter Haar syndrome 2339 F
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2418 Gay Feinmesser Cohen syndrome
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2497 Glucocorticoid resistance 2498
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2577 Gray platelet syndrome 2578 Gr
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2656 Hemicrania continua 2657 Hemif
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2734 Hereditary nodular heterotopia
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2814 Horner's syndrome 2815 Horsesh
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2894 Hyperlipoproteinemia type 4 28
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2970 Hypopituitarism postaxial poly
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3045 Immune dysfunction with T-cell
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3121 Intravascular papillary endoth
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3201 Juvenile Scleroderma 3202 Juve
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3281 Kohlschutter Tonz syndrome 328
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3360 Lattice corneal dystrophy type
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hypogammaglobulinema 3439 Leukoence
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3517 Long QT syndrome 10 3518 Long
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3594 Mal de debarquement 3595 Malak
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3672 Maturity-onset diabetes of the
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3750 Mental retardation arachnodact
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3824 Methylmalonic acidemia with ho
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3901 Mikulicz disease 3902 Miles-Ca
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3977 Muckle-Wells syndrome 3978 Muc
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4055 Myasthenia gravis 4056 Myasthe
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4134 Nance-Horan syndrome 4135 Narc
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4213 Neuromyelitis optica spectrum
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4293 Nystagmus, hereditary vertical
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4372 Optic atrophy 2 4373 Optic atr
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4451 Osteopetrosis autosomal domina
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4531 Papular urticaria 4532 Paracoc
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4611 Pentosuria 4612 Penttinen-Aula
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4688 Pilotto syndrome 4689 Pineal p
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4766 Pontocerebellar hypoplasia typ
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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
Page 141 and 142:
5470 Spastic ataxia Charlevoix-Sagu
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5549 Spinocerebellar ataxia 27 5550
Page 145 and 146:
5625 Spondylometaphyseal dysplasia
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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
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6017 Ulcerative proctitis 6018 Uler
Page 157 and 158:
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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