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

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4650 Pheochromocytoma, childhood 4651 Pheochromocytoma-islet cell tumor syndrome 4652 Philadelphia-negative chronic myeloid leukemia 4653 Phocomelia ectrodactyly deafness sinus arrhythmia 4654 Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia 4655 Phosphoglucomutase deficiency type 2 4656 Phosphoglucomutase deficiency type 3 4657 Phosphoglucomutase deficiency type 4 4658 Phosphoglycerate kinase deficiency 4659 Phosphoglycerate mutase deficiency 4660 Phosphomannoisomerase deficiency 4661 Phosphoribosylpyrophosphate synthetase deficiency 4662 Photosensitive epilepsy 4663 Phyllodes tumor of the prostate 4664 PIBIDS syndrome 4665 Picardi-Lassueur-Little syndrome 4666 Pick's disease 4667 Piebaldism 4668 Piepkorn Karp Hickok syndrome 4669 Pierre Marie cerebellar ataxia 4670 Pierre Robin sequence 4671 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies 4672 Pierre Robin syndrome skeletal dysplasia polydactyly 4673 Pierson syndrome 4674 Pigmentary retinopathy 4675 Pigment-dispersion syndrome 4676 Pigmented purpuric eruption 4677 Pigmented villonodular synovitis 4678 Pili annulati 4679 Pili multigemini 4680 Pili torti 4681 Pili torti developmental delay neurological abnormalities 4682 Pili torti onychodysplasia 4683 Pillay syndrome 4684 Pilo dento ungular dysplasia microcephaly 4685 Pilocytic astrocytoma 4686 Pilodental dysplasia with refractive errors 4687 Pilomatrixoma
4688 Pilotto syndrome 4689 Pineal parenchymal tumors of intermediate differentiation 4690 Pineoblastoma 4691 Pineoblastoma, childhood 4692 Pineocytoma 4693 Pinheiro Freire-Maia Miranda syndrome 4694 Pinta 4695 Piriformis syndrome 4696 Pitt syndrome 4697 Pitt-Hopkins syndrome 4698 Pituitary cancer 4699 Pituitary dwarfism with large sella turcica 4700 Pituitary hormone deficiency, combined 1 4701 Pituitary hormone deficiency, combined 2 4702 Pituitary hormone deficiency, combined 3 4703 Pituitary hormone deficiency, combined 4 4704 Pityriasis lichenoides 4705 Pityriasis lichenoides chronica 4706 Pityriasis lichenoides et varioliformis acuta 4707 Pityriasis rotunda 4708 Pityriasis rubra pilaris 4709 Piussan Lenaerts Mathieu syndrome 4710 Placenta disorder 4711 Plagiocephaly 4712 Plagiocephaly and X-linked mental retardation 4713 Plasma cell leukemia 4714 Plasma thromboplastin antecedent deficiency 4715 Plasmalogens synthesis deficiency isolated 4716 Plasminogen activator inhibitor type 1 deficiency 4717 Platelet disorder, familial, with associated myeloid malignancy 4718 Platelet storage pool deficiency 4719 Platyspondylic lethal skeletal dysplasia Torrance type 4720 Pleoconial myopathy with salt craving 4721 Pleomorphic malignant fibrous histiocytoma 4722 Pleomorphic xanthoastrocytoma 4723 Pleuropulmonary blastoma 4724 Plexosarcoma 4725 Plummer Vinson syndrome 4726 Pneumocystic carinii pneumonia 4727 Pneumocystosis
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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
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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
Page 21 and 22:
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
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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 and 118: 4531 Papular urticaria 4532 Paracoc
Page 119: 4611 Pentosuria 4612 Penttinen-Aula
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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