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

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2537 GM2-gangliosidosis, B, B1, AB variant 2538 Gms syndrome 2539 Gnathostoma Infection 2540 Goblet cell carcinoma 2541 Goldberg-Shprintzen megacolon syndrome 2542 Goldenhar disease 2543 Goldmann-Favre syndrome 2544 Gollop Coates syndrome 2545 GOMBO syndrome 2546 Gomez Lopez Hernandez syndrome 2547 Gonadal dysgenesis 2548 Gonadal dysgenesis mixed 2549 Gonadal dysgenesis Turner type 2550 Gonadal dysgenesis XY type associated anomalies 2551 Gonadal dysgenesis, XX type 2552 Goniodysgenesis mental retardation short stature 2553 Gonococcal conjunctivitis 2554 Good syndrome 2555 Goodman syndrome 2556 Goodpasture syndrome 2557 Gordon syndrome 2558 Gorham's disease 2559 Gorlin Bushkell Jensen syndrome 2560 Gorlin Chaudhry Moss syndrome 2561 Gouty nephropathy, familial 2562 Gracile bone dysplasia 2563 GRACILE syndrome 2564 Graham Boyle Troxell syndrome 2565 Grand Kaine Fulling syndrome 2566 Grant syndrome 2567 Granulocytopenia 2568 Granuloma annulare 2569 Granuloma Inguinale 2570 Granulomas, congenital cerebral 2571 Granulomatous hypophysitis 2572 Granulomatous rosacea 2573 Granulomatous slack skin disease 2574 Granulosa cell tumor of the ovary 2575 Graphite Pneumoconiosis 2576 Graves' disease
2577 Gray platelet syndrome 2578 Gray zone lymphoma 2579 Green Sandford Davison syndrome 2580 Greig cephalopolysyndactyly syndrome 2581 Griscelli syndrome 2582 Griscelli syndrome type 1 2583 Griscelli syndrome type 2 2584 Griscelli syndrome type 3 2585 Grix Blankenship Peterson syndrome 2586 Groenouw type I corneal dystrophy 2587 Groll Hirschowitz syndrome 2588 Group B strep disease in newborns 2589 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 2590 Growth deficiency brachydactyly unusual facies 2591 Growth hormone deficiency 2592 Growth hormone insensitivity with immunodeficiency 2593 Growth retardation alopecia pseudoanodontia optic 2594 Growth retardation hydrocephaly lung hypoplasia 2595 Growth retardation mental retardation phalangeal hypoplasia 2596 Grubben de Cock Borghgraef syndrome 2597 GTP cyclohydrolase I deficiency 2598 Guanidinoacetate methyltransferase deficiency 2599 Guillain-Barre syndrome 2600 Guizar Vasquez Sanchez Manzano syndrome 2601 Gupta Patton syndrome 2602 Gurrieri syndrome 2603 Guttate psoriasis 2604 Gynandroblastoma 2605 Gyrate atrophy of choroid and retina 2606 Haemophilus influenzae 2607 Hailey-Hailey disease 2608 Haim-Munk syndrome 2609 Hair defect with photosensitivity and mental retardation 2610 Hairy cell leukemia 2611 Hairy elbows 2612 Hairy nose tip 2613 Hairy palms and soles 2614 Hairy tongue 2615 Hajdu-Cheney syndrome
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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
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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 and 62: 2338 Frank Ter Haar syndrome 2339 F
Page 63 and 64: 2418 Gay Feinmesser Cohen syndrome
Page 65: 2497 Glucocorticoid resistance 2498
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
Page 113 and 114: 4372 Optic atrophy 2 4373 Optic atr
Page 115 and 116: 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
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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
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5470 Spastic ataxia Charlevoix-Sagu
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5549 Spinocerebellar ataxia 27 5550
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5625 Spondylometaphyseal dysplasia
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5704 Superior limbic keratoconjunct
Page 149 and 150:
5781 T-cell immunodeficiency, conge
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5859 Thyroid cancer, childhood 5860
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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
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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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