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

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4963 Pulmonary valves agenesis 4964 Pulmonary vein stenosis 4965 Pulmonary venoocclusive disease 4966 Pulmonary venous return anomaly 4967 Pulmonic stenosis 4968 Punctate acrokeratoderma freckle like pigmentation 4969 Punctate inner choroidopathy 4970 Punctate porokeratosis 4971 Pure autonomic failure 4972 Pure red cell aplasia 4973 Purine nucleoside phosphorylase deficiency 4974 Pycnodysostosis 4975 Pyknoachondrogenesis 4976 Pyle disease 4977 Pyoderma gangrenosum 4978 Pyogenic arthritis, pyoderma gangrenosum and acne 4979 Pyomyositis 4980 Pyridoxal 5'-phosphate-dependent epilepsy 4981 Pyridoxine deficiency 4982 Pyridoxine-dependent epilepsy 4983 Pyropoikilocytosis hereditary 4984 Pyruvate carboxylase deficiency 4985 Pyruvate decarboxylase deficiency 4986 Pyruvate dehydrogenase deficiency 4987 Pyruvate dehydrogenase phosphatase deficiency 4988 Pyruvate kinase deficiency 4989 Pyruvate kinase deficiency, liver type 4990 Pyruvate kinase deficiency, muscle type 4991 Q fever 4992 Qazi Markouizos syndrome 4993 Quebec platelet disorder 4994 Quinquaud's decalvans folliculitis 4995 Rabies 4996 Rabson-Mendenhall syndrome 4997 Radial defect Robin sequence 4998 Radial hypoplasia, triphalangeal thumbs and hypospadias 4999 Radial ray agenesis 5000 Radial ray hypoplasia choanal atresia 5001 Radiation induced angiosarcoma of the breast 5002 Radiation induced brachial plexopathy
5003 Radiation induced cancer 5004 Radiation induced meningioma 5005 Radio renal syndrome 5006 Radio-digito-facial dysplasia 5007 Radioulnar synostosis retinal pigment abnormalities 5008 Radio-ulnar synostosis type 1 5009 Radio-ulnar synostosis type 2 5010 Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 5011 Radius absent anogenital anomalies 5012 Raine syndrome 5013 Ramer Ladda syndrome 5014 Ramon Syndrome 5015 Ramos Arroyo Clark syndrome 5016 Rapadilino syndrome 5017 Rapp-Hodgkin syndrome 5018 Rasmussen encephalitis 5019 Rasmussen Johnsen Thomsen syndrome 5020 Rat bite fever 5021 Reactive angioendotheliomatosis 5022 Reactive arthritis 5023 Reardon Wilson Cavanagh syndrome 5024 Recessive developmental delay, small stature, microcephaly and brain calcifications 5025 Recombinant chromosome 8 syndrome 5026 Rectal cancer, childhood 5027 Rectal neoplasm 5028 Rectosigmoid neoplasm 5029 Recurrent peripheral facial palsy 5030 Recurrent respiratory papillomatosis 5031 Red cell phospholipid defect with hemolysis 5032 Red skin pigment anomaly of New Guinea 5033 Reductional transverse limb defects 5034 Reed syndrome 5035 Reese retinal dysplasia 5036 Refsum disease 5037 Refsum disease with increased pipecolic acidemia 5038 Refsum disease, infantile form 5039 Reginato Shiapachasse syndrome 5040 Relapsing polychondritis
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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
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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
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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
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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 and 126: 4844 Primary pigmented nodular adre
Page 127: 4923 Pseudopelade of Brocq 4924 Pse
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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