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

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5742 Synostoses, tarsal, carpal, and digital 5743 Synostosis of talus and calcaneus short stature 5744 Synovial cancer 5745 Synovial Chondromatosis 5746 Synovial chondromatosis, familial with dwarfism 5747 Synovial sarcoma 5748 Synovitis 5749 Syphilitic aseptic meningitis 5750 Syphilitic myelopathy 5751 Syringobulbia 5752 Syringocystadenoma papilliferum 5753 Syringomas natal teeth oligodontia 5754 Syringomelia hyperkeratosis 5755 Syringomyelia 5756 Systemic candidiasis 5757 Systemic capillary leak syndrome 5758 Systemic mastocytosis 5759 Systemic necrotizing angitis 5760 Systemic onset juvenile idiopathic arthritis 5761 Systemic scleroderma 5762 T cell immunodeficiency primary 5763 Tabatznik syndrome 5764 Tachycardia hypertension microphthalmia and hyperglycinuria 5765 Takayasu arteritis 5766 Talipes equinovarus 5767 Talonavicular coalition 5768 Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals 5769 Tang Hsi Ryu syndrome 5770 Tangier disease 5771 TAR syndrome 5772 Tarlov cysts 5773 TARP syndrome 5774 Tarsal carpal coalition syndrome 5775 Tarsal tunnel syndrome 5776 TAU syndrome 5777 Taurodontia absent teeth sparse hair 5778 Taurodontism 5779 Taurodontism, microdontia, and dens invaginatus 5780 Tay Sachs disease
5781 T-cell immunodeficiency, congenital alopecia and nail dystrophy 5782 T-cell lymphoma 1A 5783 Teebi Kaurah syndrome 5784 Teebi Naguib Al Awadi syndrome 5785 Teebi Shaltout syndrome 5786 Teeth noneruption of with maxillary hypoplasia and genu valgum 5787 Tel Hashomer camptodactyly syndrome 5788 Telencephalic leukoencephalopathy 5789 Telfer Sugar Jaeger syndrome 5790 TEMPI syndrome 5791 Temporal epilepsy, familial 5792 Temporomandibular ankylosis 5793 Temtamy preaxial brachydactyly syndrome 5794 Temtamy syndrome 5795 Tendons, extensor, of fingers, anomalous insertion of 5796 Teratoma with malignant transformation 5797 Testicular cancer 5798 Testicular cancer, childhood 5799 Testotoxicosis 5800 Tetanus 5801 Tetraamelia multiple malformations X-linked 5802 Tetra-amelia syndrome 5803 Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities 5804 Tetraamelia with pulmonary hypoplasia 5805 Tetrahydrobiopterin deficiency 5806 Tetralogy of Fallot 5807 Tetralogy of fallot and glaucoma 5808 Tetramelic monodactyly 5809 Tetraploidy 5810 Tetrasomy 9p 5811 Tetrasomy X 5812 Thai symphalangism syndrome 5813 Thakker-Donnai syndrome 5814 Thalamic degeneration symmetrical infantile 5815 Thalamic degeneration, symmetric infantile 5816 Thalassemia 5817 Thanatophoric dysplasia 5818 Thanatophoric dysplasia Glasgow variant 5819 Thanatophoric dysplasia type 1
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Table 4: List of Rare Diseases and
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77 Acrodysplasia with ossification
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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
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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
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2970 Hypopituitarism postaxial poly
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3045 Immune dysfunction with T-cell
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3121 Intravascular papillary endoth
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3201 Juvenile Scleroderma 3202 Juve
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3281 Kohlschutter Tonz syndrome 328
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3360 Lattice corneal dystrophy type
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hypogammaglobulinema 3439 Leukoence
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3517 Long QT syndrome 10 3518 Long
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3594 Mal de debarquement 3595 Malak
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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 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: 5704 Superior limbic keratoconjunct
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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