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

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2458 Gigantomastia 2459 Gingival fibromatosis with distinctive facies 2460 Gingival fibromatosis with hypertrichosis 2461 Gingival fibromatosis, 1 2462 Gingival fibromatosis, 2 2463 Gingival fibromatosis, 3 2464 Gingival fibromatosis, 4 2465 Gitelman syndrome 2466 Glanders 2467 Glanzmann thrombasthenia 2468 Glass Chapman Hockley syndrome 2469 Glassy cell carcinoma of the cervix 2470 Glaucoma 3 primary infantile B 2471 Glaucoma iridogoniodysgenesia 2472 Glaucoma sleep apnea 2473 Glaucoma type 1C 2474 Glaucoma, congenital 2475 Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome 2476 Glaucoma, hereditary 2477 Glaucoma, hereditary adult type 1A 2478 Glaucoma, hereditary juvenile type 1B 2479 Glaucoma, primary infantile type 3A 2480 Glioblastoma 2481 Glioma 2482 Gliomatosis cerebri 2483 Gliosarcoma 2484 Global disaccharide intolerance 2485 Glomerulonephritis 2486 Glomerulonephritis with sparse hair and telangiectases 2487 Glomerulopathy with fibronectin deposits 1 2488 Glomerulopathy with fibronectin deposits 2 2489 Glomus jugulare tumors 2490 Glomus tympanicum tumor 2491 Glomus vagale tumors 2492 Glossodynia 2493 Glossopalatine ankylosis micrognathia ear anomalies 2494 Glossopharyngeal neuralgia 2495 Glucagonoma 2496 Glucagonoma syndrome
2497 Glucocorticoid resistance 2498 Glucocorticoid-remediable aldosteronism 2499 Glucose transporter type 1 deficiency syndrome 2500 Glucose-6-phosphate dehydrogenase deficiency 2501 Glucose-6-phosphate translocase deficiency 2502 Glucose-galactose malabsorption 2503 Glucosephosphate isomerase deficiency 2504 Glucosidase acid-1,4-alpha deficiency 2505 Glutamate decarboxylase deficiency 2506 Glutamate formiminotransferase deficiency 2507 Glutamine deficiency, congenital 2508 Glutaric acidemia type I 2509 Glutaric acidemia type II 2510 Glutathione synthetase deficiency 2511 Glutathionuria 2512 Glyceraldehyde-3-phosphate dehydrogenase deficiency 2513 Glycine encephalopathy 2514 Glycine N-methyltransferase deficiency 2515 Glycogen storage disease 8 2516 Glycogen storage disease type 0 2517 Glycogen storage disease type 0, muscle 2518 Glycogen storage disease type 12 2519 Glycogen storage disease type 13 2520 Glycogen storage disease type 14 2521 Glycogen storage disease type 1A 2522 Glycogen storage disease type 1B 2523 Glycogen storage disease type 2 2524 Glycogen storage disease type 3 2525 Glycogen storage disease type 4 2526 Glycogen storage disease type 5 2527 Glycogen storage disease type 6 2528 Glycogen storage disease type 6, due to phosphorylation 2529 Glycogen storage disease type 7 2530 Glycoproteinosis 2531 Glycosylphosphatidylinositol deficiency 2532 GM1 gangliosidosis 2533 GM1 gangliosidosis type 1 2534 GM1 gangliosidosis type 2 2535 GM1 gangliosidosis type 3 2536 GM2 gangliosidosis, 0 variant
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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 and 62: 2338 Frank Ter Haar syndrome 2339 F
Page 63: 2418 Gay Feinmesser Cohen syndrome
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
Page 113 and 114: 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
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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
Page 145 and 146:
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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