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

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2378 Fukuda Miyanomae Nakata syndrome 2379 Fukuyama type muscular dystrophy 2380 Fumarase deficiency 2381 Functioning pancreatic endocrine tumor 2382 Fundus dystrophy, pseudoinflammatory, of Sorsby 2383 Fuqua Berkovitz syndrome 2384 Furunculous myiasis 2385 Fused mandibular incisors 2386 Galactocele 2387 Galactokinase deficiency 2388 Galactorrhoea-Hyperprolactinaemia 2389 Galactose epimerase deficiency 2390 Galactosemia 2391 Galactosialidosis 2392 Gall bladder cancer 2393 Game Friedman Paradice syndrome 2394 Gamma aminobutyric acid transaminase deficiency 2395 Gamma heavy chain disease 2396 Gamma-cystathionase deficiency 2397 Gangliocytoma 2398 Ganglioglioma 2399 GAPO syndrome 2400 Gardner Morrison Abbot syndrome 2401 Gardner syndrome 2402 Gardner-Diamond syndrome 2403 Garret Tripp syndrome 2404 Gas bloat syndrome 2405 Gastric duplication cysts 2406 Gastric lymphoma 2407 Gastrocutaneous syndrome 2408 Gastro-enteropancreatic neuroendocrine tumor 2409 Gastrointestinal Stromal Tumors 2410 Gastroschisis 2411 Gaucher disease 2412 Gaucher disease perinatal lethal 2413 Gaucher disease type 1 2414 Gaucher disease type 2 2415 Gaucher disease type 3 2416 Gaucher ichthyosis restrictive dermopathy 2417 Gaucher-like disease
2418 Gay Feinmesser Cohen syndrome 2419 Gelatinous ascites 2420 Geleophysic dwarfism 2421 Gemignani syndrome 2422 Genee-Wiedemann syndrome 2423 Generalized dominant dystrophic epidermolysis bullosa 2424 Generalized resistance to thyroid hormone 2425 Generalized torsion dystonia 2426 Genetic reflex epilepsy 2427 Geniospasm 2428 Genital dwarfism 2429 Genital dwarfism, Turner type 2430 Genito palato cardiac syndrome 2431 Genitopatellar syndrome 2432 Genoa syndrome 2433 Genochondromatosis 2434 Genu valgum, st Helena familial 2435 Geographic tongue 2436 German syndrome 2437 Germinoma 2438 Geroderma osteodysplasticum 2439 Gershinibaruch Leibo syndrome 2440 Gershoni-Baruch syndrome 2441 Gerstmann syndrome 2442 Gerstmann-Straussler-Scheinker disease 2443 Gestational diabetes insipidus 2444 Gestational trophoblastic tumor 2445 Ghosal hematodiaphyseal dysplasia syndrome 2446 Ghose Sachdev Kumar syndrome 2447 Gianotti Crosti syndrome 2448 Giant axonal neuropathy 2449 Giant cell arteritis 2450 Giant cell myocarditis 2451 Giant congenital nevus 2452 Giant ganglionic hyperplasia 2453 Giant mammary hamartoma 2454 Giant papillary conjunctivitis 2455 Giant platelet syndrome 2456 Gigantism 2457 Gigantism advanced bone age hoarse cry
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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
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
Page 59 and 60: 2260 Fetal brain disruption sequenc
Page 61: 2338 Frank Ter Haar syndrome 2339 F
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 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
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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
Page 133 and 134:
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
Page 143 and 144:
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
Page 155 and 156:
6017 Ulcerative proctitis 6018 Uler
Page 157 and 158:
6096 Verloove Vanhorick Brubakk syn
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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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