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

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6215 Woolly hair hypotrichosis everted lower lip and outstanding ears 6216 Woolly hair syndrome 6217 Worster Drought syndrome 6218 Wright Dyck syndrome 6219 Wrinkly skin syndrome 6220 WT limb blood syndrome 6221 Wyburn Mason's syndrome 6222 Xanthinuria type 1 6223 Xanthinuria type 2 6224 Xanthogranulomatous cholecystitis 6225 Xanthogranulomatous sialadenitis 6226 Xeroderma pigmentosum 6227 Xeroderma pigmentosum type 7 6228 Xeroderma pigmentosum, type 1 6229 Xeroderma pigmentosum, type 2 6230 Xeroderma pigmentosum, type 3 6231 Xeroderma pigmentosum, type 5 6232 Xeroderma pigmentosum, type 6 6233 Xeroderma pigmentosum, type 9 6234 Xeroderma pigmentosum, variant type 6235 Xeroderma talipes enamel defects 6236 XFE progeroid syndrome 6237 XK aprosencephaly 6238 X-linked adrenal hypoplasia congenita 6239 X-linked agammaglobulinemia 6240 X-linked Charcot-Marie-Tooth disease type 5 6241 X-linked congenital stationary night blindness 6242 X-linked creatine deficiency 6243 X-linked dominant scapuloperoneal myopathy 6244 X-linked hypohidrotic ectodermal dysplasia 6245 X-linked ichthyosis 6246 X-linked lymphoproliferative syndrome 6247 X-linked lymphoproliferative syndrome 1 6248 X-linked lymphoproliferative syndrome 2 6249 X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia 6250 X-linked mental retardation and macro-orchidism 6251 X-linked mental retardation craniofacial abnormal microcephaly club 6252 X-linked mental retardation De silva type
6253 X-linked mental retardation Gustavson type 6254 X-linked mental retardation type Martinez 6255 X-linked mental retardation type Raynaud 6256 X-linked mental retardation type Schutz 6257 X-linked mental retardation type Wittwer 6258 X-linked myopathy with excessive autophagy 6259 X-linked periventricular heterotopia 6260 X-linked severe combined immunodeficiency 6261 X-linked thrombocytopenia 6262 X-linked visceral heterotaxy 1 6263 Y chromosome infertility 6264 Y chromosome pericentric inversion 6265 Yaws 6266 Yellow fever 6267 Yellow nail syndrome 6268 Yemenite deaf-blind hypopigmentation syndrome 6269 Yolk sac tumor 6270 Yorifuji Okuno syndrome 6271 Young Hughes syndrome 6272 Young syndrome 6273 Yunis Varon syndrome 6274 Yusho Disease 6275 Zadik Barak Levin syndrome 6276 ZAP-70 deficiency 6277 Zazam Sheriff Phillips syndrome 6278 Zechi Ceide syndrome 6279 Zellweger syndrome 6280 Zerres Rietschel Majewski syndrome 6281 Zlotogora syndrome 6282 Zollinger-Ellison syndrome 6283 Zori Stalker Williams syndrome 6284 Zunich neuroectodermal syndrome 6285 Zuska's disease 6286 Zygomycosis 6287 11-beta-hydroxylase deficiency 6288 15q13.3 microdeletion syndrome 6289 16p11.2 deletion syndrome 6290 16q24.3 microdeletion syndrome 6291 17-alpha-hydroxylase deficiency 6292 17-beta hydroxysteroid dehydrogenase 3 deficiency
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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
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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
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2102 Erythropoietic uroporphyria as
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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
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: 6176 Weyers acrofacial dysostosis 6
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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