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

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4571 Partington X-linked mental retardation syndrome 4572 Parvovirus antenatal infection 4573 Passos-Bueno syndrome 4574 Pasteurella multocida infection 4575 Patel Bixler syndrome 4576 Patella hypoplasia mental retardation 4577 Patent ductus arteriosus 4578 Patent ductus venosus 4579 Patterned dystrophy of retinal pigment epithelium 4580 Patterson pseudoleprechaunism syndrome 4581 Patterson Stevenson syndrome 4582 Pauciarticular chronic arthritis 4583 Pauciarticular onset juvenile idiopathic arthritis 4584 Pearson syndrome 4585 Pectus carinatum 4586 Pediatric Crohns disease 4587 Pediatric multiple sclerosis 4588 Pediatric T-cell leukemia 4589 Pediatric ulcerative colitis 4590 Peeling skin syndrome 4591 PEHO syndrome 4592 Pelger-Huet anomaly 4593 Pelizaeus-Merzbacher disease 4594 Pelizaeus-Merzbacher disease, late-onset type 4595 Pellagra 4596 Pellagra like syndrome 4597 Pelvic dysplasia arthrogryposis of lower limbs 4598 Pelvic lipomatosis 4599 Pemphigoid gestationis 4600 Pemphigus 4601 Pemphigus and fogo selvagem 4602 Pemphigus foliaceus 4603 Pemphigus vulgaris 4604 Pemphigus vulgaris, familial 4605 Pendred syndrome 4606 Penile cancer, adult 4607 Penile cancer, childhood 4608 Penis agenesis 4609 Penoscrotal transposition 4610 Pentalogy of Cantrell
4611 Pentosuria 4612 Penttinen-Aula syndrome 4613 PEPCK 1 deficiency 4614 PEPCK 2 deficiency 4615 Peptidic growth factors deficiency 4616 Periarteritis nodosa 4617 Pericardium absent mental retardation short stature 4618 Perilymphatic fistula 4619 Perimyositis 4620 Periodic fever, aphthous stomatitis, pharyngitis and adenitis 4621 Periodic fever, familial, autosomal dominant 4622 Peripartum cardiomyopathy 4623 Peripheral T-cell lymphoma 4624 Periventricular leukomalacia 4625 Permanent neonatal diabetes mellitus 4626 Perniosis 4627 Peroxisome biogenesis disorders 4628 Perry syndrome 4629 Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly 4630 Persistent Mullerian duct syndrome 4631 Persistent truncus arteriosus 4632 Peters anomaly 4633 Peters plus syndrome 4634 Petit-Fryns syndrome 4635 Peutz Jeghers syndrome 4636 Peyronie disease 4637 Pfeiffer Kapferer syndrome 4638 Pfeiffer Mayer syndrome 4639 Pfeiffer Palm Teller syndrome 4640 Pfeiffer Rockelein syndrome 4641 Pfeiffer syndrome 4642 Pfeiffer Tietze Welte syndrome 4643 PHACE syndrome 4644 Phacomatosis pigmentokeratotica 4645 Phacomatosis pigmentovascularis 4646 PHAVER syndrome 4647 Phenobarbital antenatal infection 4648 Phenylketonuria 4649 Pheochromocytoma
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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
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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 and 116: 4451 Osteopetrosis autosomal domina
Page 117: 4531 Papular urticaria 4532 Paracoc
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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