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

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505 Atrophoderma of Pierini and Pasini 506 Atrophodermia vermiculata 507 Attenuated familial adenomatous polyposis 508 Atypical hemolytic uremic syndrome 509 Atypical lipodystrophy 510 Atypical mycobacteriosis, familial 511 Atypical Rett syndrome 512 Auditory neuropathy 513 Auditory perceptual disorder 514 Auralcephalosyndactyly 515 Auriculo-condylar syndrome 516 Auriculoosteodysplasia 517 Ausems Wittebol-Post Hennekam syndrome 518 Autism with port-wine stain 519 Autoimmune enteropathy 520 Autoimmune hemolytic anemia 521 Autoimmune hepatitis 522 Autoimmune Inner Ear disease 523 Autoimmune lymphoproliferative syndrome 524 Autoimmune myocarditis 525 Autoimmune oophoritis 526 Autoimmune pancreatitis 527 Autoimmune polyglandular syndrome type 1 528 Autoimmune polyglandular syndrome type 2 529 Autoimmune polyglandular syndrome type 3 530 Autoimmune progesterone dermatitis 531 Autosomal dominant Alport syndrome 532 Autosomal dominant compelling helio ophthalmic outburst syndrome 533 Autosomal dominant hyper IgE syndrome 534 Autosomal dominant neuronal ceroid lipofuscinosis 4B 535 Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy 536 Autosomal dominant partial epilepsy with auditory features 537 Autosomal dominant pseudohypoaldosteronism type 1 538 Autosomal recessive Alport syndrome 539 Autosomal recessive cerebellar ataxia with cabc1/adck3 gene mutations 540 Autosomal recessive hyper IgE syndrome 541 Autosomal recessive juvenile Parkinson disease
542 Autosomal recessive neuronal ceroid lipofuscinosis 4A 543 Autosomal recessive nonsyndromic congenital nuclear cataract 544 Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy 545 Autosomal recessive polycystic kidney disease 546 Autosomal recessive pseudohypoaldosteronism type 1 547 Autosomal recessive spastic ataxia 4 548 Axenfeld-Rieger syndrome 549 Axenfeld-Rieger syndrome type 1 550 Axenfeld-Rieger syndrome type 2 551 Axenfeld-Rieger syndrome type 3 552 Axial mesodermal dysplasia spectrum 553 Axial osteomalacia 554 Axial osteosclerosis 555 Axial spondylometaphyseal dysplasia 556 Ayazi syndrome 557 B cell prolymphocytic leukemia 558 Babesiosis 559 Baby rattle pelvic dysplasia 560 Bacterial meningitis 561 Baetz-Greenwalt syndrome 562 Bagatelle Cassidy syndrome 563 Baker Vinters syndrome 564 Balantidiasis 565 Balkan endemic nephropathy 566 Baller-Gerold syndrome 567 Balo disease 568 Balo's concentric sclerosis 569 Bamforth syndrome 570 BANF acoustic neurinoma 571 Banki syndrome 572 Bannayan-Riley-Ruvalcaba syndrome 573 Banti's syndrome 574 Bantu siderosis 575 Baraitser Brett Piesowicz syndrome 576 Baraitser Rodeck Garner syndrome 577 Barakat syndrome 578 Barber Say syndrome 579 Bardet-Biedl syndrome 580 Bardet-Biedl syndrome 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: 467 Arthrogryposis renal dysfunctio
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 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
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2894 Hyperlipoproteinemia type 4 28
Page 77 and 78:
2970 Hypopituitarism postaxial poly
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3045 Immune dysfunction with T-cell
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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
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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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