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

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4884 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY 4885 Prostatic malacoplakia associated with prostatic abscess 4886 Prostatic stromal proliferation of uncertain malignant potential 4887 Protein R deficiency 4888 Protein S deficiency 4889 Proteus like syndrome mental retardation eye defect 4890 Proteus syndrome 4891 Prothrombin thrombophilia 4892 Protoporphyria 4893 Proud Levine Carpenter syndrome 4894 Proximal chromosome 18q deletion syndrome 4895 Proximal spinal muscular atrophy 4896 Prune belly syndrome 4897 Prurigo nodularis 4898 Pruritic urticarial papules plaques of pregnancy 4899 Pseudo Pelger-Huet anomaly 4900 Pseudoachondroplasia 4901 Pseudoachondroplastic dysplasia 2 4902 Pseudoainhum 4903 Pseudoaminopterin syndrome 4904 Pseudoarylsulfatase A deficiency 4905 Pseudocholinesterase deficiency 4906 Pseudodiastrophic dysplasia 4907 Pseudohermaphrodism anorectal anomalies 4908 Pseudohyperkalemia Cardiff 4909 Pseudohypoaldosteronism type 2 4910 Pseudohypoparathyroidism 4911 Pseudohypoparathyroidism type 1A 4912 Pseudohypoparathyroidism type 1B 4913 Pseudohypoparathyroidism type 1C 4914 Pseudohypoparathyroidism type 2 4915 Pseudoinflammatory fundus dystrophy 4916 Pseudomarfanism 4917 Pseudomonas stutzeri infections 4918 Pseudomongolism 4919 Pseudomyotonia 4920 Pseudomyxoma peritonei 4921 Pseudoneonatal adrenoleukodystrophy 4922 Pseudopapilledema blepharophimosis hand anomalies
4923 Pseudopelade of Brocq 4924 Pseudopolycythaemia 4925 Pseudoprogeria syndrome 4926 Pseudopseudohypoparathyroidism 4927 Pseudotrisomy 13 syndrome 4928 Pseudotumor cerebri 4929 Pseudo-Turner syndrome 4930 Pseudo-Von Willebrand disease 4931 Pseudoxanthoma elasticum 4932 Pseudoxanthoma elasticum, dominant form 4933 Pseudoxanthoma elasticum, forme fruste 4934 Pseudoxanthoma elasticum, recessive form 4935 Psittacosis 4936 Psoriatic juvenile idiopathic arthritis 4937 Pterigium Colli 4938 Pterygia, mental retardation and distinctive craniofacial features 4939 Pterygium colli mental retardation digital anomalies 4940 Pterygium of the conjunctiva and cornea 4941 Ptosis coloboma mental retardation 4942 Ptosis strabismus diastasis 4943 Ptosis strabismus ectopic pupils 4944 Pudendal Neuralgia 4945 Pulmonary alveolar proteinosis acquired 4946 Pulmonary arterio-veinous fistula 4947 Pulmonary arteriovenous malformation 4948 Pulmonary artery agenesis 4949 Pulmonary artery coming from the aorta 4950 Pulmonary artery familial dilatation 4951 Pulmonary artery, isolated unilateral absence of (Isolated UAPA) 4952 Pulmonary artery, unilateral absence of (UAPA) 4953 Pulmonary atresia with intact ventricular septum 4954 Pulmonary atresia with ventricular septal defect 4955 Pulmonary branches stenosis 4956 Pulmonary edema of mountaineers 4957 Pulmonary hyalinizing granuloma 4958 Pulmonary hypoplasia familial primary 4959 Pulmonary sequestration 4960 Pulmonary supravalvular stenosis 4961 Pulmonary surfactant protein B, deficiency of 4962 Pulmonary valve stenosis
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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
Page 9 and 10:
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
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
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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
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2656 Hemicrania continua 2657 Hemif
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2734 Hereditary nodular heterotopia
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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 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: 4844 Primary pigmented nodular adre
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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