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

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1364 Colonic malakoplakia 1365 Colorectal cancer, childhood 1366 Colpocephaly 1367 Colver Steer Godman syndrome 1368 Combarros Calleja Leno syndrome 1369 Combined malonic and methylmalonic aciduria 1370 Common variable immunodeficiency 1371 Compartment syndrome 1372 Complement component 2 deficiency 1373 Complement component 8 deficiency type 1 1374 Complement component 8 deficiency type 2 1375 Complement component deficiency 1376 Complement component receptor 1 1377 Complement receptor deficiency 1378 Complete androgen insensitivity syndrome 1379 Complete atrioventricular canal 1380 Complex regional pain syndrome 1381 Condensing osteitis of the clavicle 1382 Conductive deafness with malformed external ear 1383 Cone dystrophy X-linked with tapetal-like sheen 1384 Cone-rod dystrophy 1385 Cone-rod dystrophy 1 1386 Cone-rod dystrophy 2 1387 Cone-rod dystrophy 3 1388 Cone-rod dystrophy 5 1389 Cone-rod dystrophy 6 1390 Cone-rod dystrophy amelogenesis imperfecta 1391 Cone-rod dystrophy X-linked 1 1392 Cone-rod dystrophy X-linked 2 1393 Cone-rod dystrophy X-linked 3 1394 Congenital absence of the sternocleidomastoid muscle 1395 Congenital adrenal hyperplasia 1396 Congenital alopecia X-linked 1397 Congenital amegakaryocytic thrombocytopenia 1398 Congenital amputation 1399 Congenital aneurysms of the great vessels 1400 Congenital anosmia 1401 Congenital antithrombin deficiency 1402 Congenital antithrombin deficiency type 2 1403 Congenital antithrombin deficiency type 3
1404 Congenital aplastic anemia 1405 Congenital arteriovenous shunt 1406 Congenital articular rigidity 1407 Congenital benign spinal muscular atrophy dominant 1408 Congenital bilateral absence of the vas deferens 1409 Congenital bronchobiliary fistula 1410 Congenital cardiovascular shunt 1411 Congenital central hypoventilation syndrome 1412 Congenital chloride diarrhea 1413 Congenital contractural arachnodactyly 1414 Congenital contractures 1415 Congenital craniosynostosis maternal hyperthyroiditis 1416 Congenital cystic eye 1417 Congenital cystic eye multiple ocular and intracranial anomalies 1418 Congenital cytomegalovirus 1419 Congenital diaphragmatic hernia 1420 Congenital dislocation of the patella 1421 Congenital disorder of glycosylation type 1A 1422 Congenital disorder of glycosylation type 1B 1423 Congenital disorder of glycosylation type 1C 1424 Congenital disorder of glycosylation type 1D 1425 Congenital disorder of glycosylation type 1E 1426 Congenital disorder of glycosylation type 1F 1427 Congenital disorder of glycosylation type 1G 1428 Congenital disorder of glycosylation type 1H 1429 Congenital disorder of glycosylation type 1I 1430 Congenital disorder of glycosylation type 1J 1431 Congenital disorder of glycosylation type 1K 1432 Congenital disorder of glycosylation type 1L 1433 Congenital disorder of glycosylation type 2A 1434 Congenital disorder of glycosylation type 2B 1435 Congenital disorder of glycosylation type 2C 1436 Congenital disorder of glycosylation type 2D 1437 Congenital disorder of glycosylation type 2E 1438 Congenital disorder of glycosylation type 2G 1439 Congenital disorder of glycosylation type I/IIX 1440 Congenital disorder of glycosylation type IIL 1441 Congenital disorders of glycosylation 1442 Congenital dyserythropoietic anemia 1443 Congenital dyserythropoietic anemia type 1
Page 1 and 2: 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: 1325 Cochleosaccular degeneration o
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 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
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3517 Long QT syndrome 10 3518 Long
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3594 Mal de debarquement 3595 Malak
Page 95 and 96:
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
Page 107 and 108:
4134 Nance-Horan syndrome 4135 Narc
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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
Page 117 and 118:
4531 Papular urticaria 4532 Paracoc
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4611 Pentosuria 4612 Penttinen-Aula
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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
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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 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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