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

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5354 Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 5355 Severe infantile axonal neuropathy 5356 Severe mental retardation and absent nails of hallux and pollex 5357 Sezary syndrome 5358 Shapiro syndrome 5359 Sharp syndrome 5360 Shaver's disease 5361 Sheehan syndrome 5362 Shigellosis 5363 Shith Filkins syndrome 5364 Short bowel syndrome 5365 Short broad great toe macrocranium 5366 Short chain acyl CoA dehydrogenase deficiency 5367 Short limb dwarf edema iris coloboma 5368 Short limb dwarf lethal Colavita Kozlowski type 5369 Short limbs abnormal face congenital heart disease 5370 Short limbs subluxed knees cleft palate 5371 Short rib-polydactyly syndrome type 3 5372 Short rib-polydactyly syndrome type 1 5373 Short rib-polydactyly syndrome type 2 5374 Short rib-polydactyly syndrome type 4 5375 Short ribs craniosynostosis polysyndactyly 5376 Short stature abnormal skin pigmentation mental retardation 5377 Short stature contractures hypotonia 5378 Short stature cranial hyperostosis hepatomegaly 5379 Short stature deafness neutrophil dysfunction 5380 Short stature dysmorphic face pelvic scapula dysplasia 5381 Short stature mental retardation eye anomalies 5382 Short stature microcephaly seizures deafness 5383 Short stature monodactylous ectrodactyly cleft palate 5384 Short stature prognathism short femoral necks 5385 Short stature Robin sequence cleft mandible hand anomalies clubfoot 5386 Short stature syndrome, Brussels type 5387 Short stature talipes natal teeth 5388 Short stature valvular heart disease 5389 Short stature with optic atrophy and Pelger-Huët anomaly syndrome 5390 Short stature wormian bones dextrocardia
5391 Short stature, cranial hyperostosis, hepatomegaly and diabetes 5392 SHORT syndrome 5393 Shoulder and thorax deformity congenital heart disease 5394 Shoulder girdle defect mental retardation familial 5395 Shprintzen omphalocele syndrome 5396 Shprintzen omphalocele syndrome 5397 Shprintzen-Goldberg craniosynostosis syndrome 5398 Shwachman-Diamond syndrome 5399 Shwartzman phenomenon 5400 Sialadenitis 5401 Sialidosis type I 5402 Sialidosis, type II 5403 Sialuria, French type 5404 Sickle cell anemia 5405 Sickle delta beta thalassemia 5406 Siderius X-linked mental retardation syndrome 5407 Sideroblastic anemia acquired 5408 Sideroblastic anemia and mitochondrial myopathy 5409 Sideroblastic anemia pyridoxine-refractory autosomal recessive 5410 Sideroblastic anemia pyridoxine-responsive autosomal recessive 5411 Sideroblastic anemia X-linked 5412 Siderosis 5413 Siegler Brewer Carey syndrome 5414 Silengo Lerone Pelizza syndrome 5415 Silicosiderosis 5416 Silicosis 5417 Sillence syndrome 5418 Silvery hair syndrome 5419 Simian B virus infection 5420 Simosa cranio facial syndrome 5421 Simpson-Golabi-Behmel syndrome 5422 Sine scleroderma 5423 Singh Chhaparwal Dhanda syndrome 5424 Single upper central incisor 5425 Single ventricular heart 5426 Singleton Merten syndrome 5427 Sinonasal undifferentiated carcinoma 5428 Sinus cancer 5429 Sinus node disease and myopia 5430 Sirenomelia
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Table 4: List of Rare Diseases and
Page 3 and 4:
77 Acrodysplasia with ossification
Page 5 and 6:
156 Adenosine deaminase deficiency
Page 7 and 8:
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
Page 19 and 20:
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
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 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: 5317 Seckel syndrome 5318 Secretory
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 and 160: 6176 Weyers acrofacial dysostosis 6
Page 161 and 162: 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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