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

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4491 Pachyonychia congenita type 2 4492 Pacman dysplasia 4493 Paget disease of bone, familial 4494 Paget disease of the breast 4495 Paget disease, extramammary 4496 Paget disease, juvenile 4497 PAGOD syndrome 4498 Pagon Stephan syndrome 4499 Paine syndrome 4500 Palant cleft palate syndrome 4501 Palatopharyngeal incompetence 4502 Pallidopyramidal syndrome 4503 Pallister W syndrome 4504 Pallister-Hall syndrome 4505 Pallister-Killian mosaic syndrome 4506 Palmer Pagon syndrome 4507 Palmoplantar keratoderma 4508 Palmoplantar keratoderma of Sybert 4509 Palmoplantar keratoderma, epidermolytic 4510 Pancreatic adenoma 4511 Pancreatic agenesis 4512 Pancreatic beta cell agenesis with neonatal diabetes mellitus 4513 Pancreatic cancer 4514 Pancreatic cancer, childhood 4515 Pancreatic carcinoma, familial 4516 Pancreatic islet cell tumors 4517 Pancreatic lipomatosis duodenal stenosis 4518 Pancreatitis, pediatric 4519 Pancreatoblastoma 4520 PANDAS 4521 Panhypopituitarism X-linked 4522 Panostotic fibrous dysplasia 4523 Pantothenate kinase-associated neurodegeneration 4524 Panuveitis 4525 Papillary cystadenocarcinoma 4526 Papillary eccrine adenoma 4527 Papillary renal cell carcinoma 4528 Papilledema 4529 Papillon Lefevre syndrome 4530 Papular mucinosis
4531 Papular urticaria 4532 Paracoccidioidomycosis 4533 Paraganglioma and gastric stromal sarcoma 4534 Paragangliomas 1 4535 Paragangliomas 2 4536 Paragangliomas 3 4537 Paragangliomas 4 4538 Paragonimiasis 4539 Parainfluenza virus type 3 4540 Paralysis agitans, juvenile, of Hunt 4541 Paramyotonia congenita 4542 Paranasal sinus cancer, adult 4543 Paranasal sinus cancer, childhood 4544 Paraneoplastic cerebellar degeneration 4545 Paraneoplastic Neurologic Disorders 4546 Paraomphalocele 4547 Paraplegia 4548 Parapsoriasis 4549 Paraquat lung 4550 Parastremmatic dwarfism 4551 Parathyroid cancer, childhood 4552 Parathyroid carcinoma 4553 PARC syndrome 4554 Parenchymatous cortical degeneration of cerebellum 4555 Paris-Trousseau thrombocytopenia 4556 Parkes Weber syndrome 4557 Parkinson disease type 3 4558 Parkinson disease type 9 4559 Parkinsonism, early onset with mental retardation 4560 Paroxysmal cold hemoglobinuria 4561 Paroxysmal hemicrania 4562 Paroxysmal nocturnal hemoglobinuria 4563 Paroxysmal ventricular fibrillation 4564 Pars planitis 4565 Parsonage Turner syndrome 4566 Partial agenesis of corpus callosum 4567 Partial atrioventricular canal 4568 Partial deletion of Y 4569 Partial lissencephaly 4570 Partington Anderson 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
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235 Alopecia mental retardation syn
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313 Anal sphincter dysplasia 314 An
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389 Anterior segment mesenchymal dy
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467 Arthrogryposis renal dysfunctio
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542 Autosomal recessive neuronal ce
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621 Becker muscular dystrophy 622 B
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699 Blastoma 700 Blastomycosis 701
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777 Braddock Jones Superneau syndro
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857 Camurati-Engelmann disease 858
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937 Cataract, autosomal recessive c
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1012 Ceroid lipofuscinosis neuronal
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1090 Chitayat Meunier Hodgkinson sy
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1170 Chromosome 16p deletion 1171 C
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1249 Chronic atypical neutrophilic
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1325 Cochleosaccular degeneration o
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1404 Congenital aplastic anemia 140
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1482 Congenital nonprogressive myop
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1561 Cranioacrofacial syndrome 1562
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1641 Cutis laxa, autosomal recessiv
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1713 Deafness, autosomal dominant n
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1790 Diamond-Blackfan anemia 2 1791
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1868 Duane syndrome 1869 Duane synd
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1946 EAF 1947 Eagle syndrome 1948 E
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2024 Endocardial fibroelastosis 202
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2102 Erythropoietic uroporphyria as
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2181 Familial exudative vitreoretin
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2260 Fetal brain disruption sequenc
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2338 Frank Ter Haar syndrome 2339 F
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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
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: 4451 Osteopetrosis autosomal domina
Page 119 and 120: 4611 Pentosuria 4612 Penttinen-Aula
Page 121 and 122: 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
Page 129 and 130: 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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