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

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5820 Thanatophoric dysplasia type 2 5821 Theodor Hertz Goodman syndrome 5822 Thiamine responsive megaloblastic anemia syndrome 5823 Thickened earlobes with conductive deafness from incus-stapes abnormalities 5824 Thiolase deficiency 5825 Thiopurine S methyltranferase deficiency 5826 Thomas syndrome 5827 Thompson Baraitser syndrome 5828 Thoracic celosomia 5829 Thoracic dysplasia hydrocephalus syndrome 5830 Thoracic outlet syndrome 5831 Thoraco abdominal enteric duplication 5832 Thoraco limb dysplasia Rivera type 5833 Thoracolaryngopelvic dysplasia 5834 Thoracomelic dysplasia 5835 Thoracopelvic dysostosis 5836 Thrombasthenia 5837 Thrombocytopathy asplenia miosis 5838 Thrombocytopenia 2 5839 Thrombocytopenia cerebellar hypoplasia short stature 5840 Thrombocytopenia Robin sequence 5841 Thrombocytopenia with elevated serum IgA and renal disease 5842 Thrombocytopenia, acquired amegakaryocytic 5843 Thrombomodulin anomalies, familial 5844 Thrombotic thrombocytopenic purpura, acquired 5845 Thrombotic thrombocytopenic purpura, congenital 5846 Thumb absent short stature immune deficiency 5847 Thumb deformity 5848 Thumb deformity, alopecia, pigmentation anomaly 5849 Thumb stiff brachydactyly mental retardation 5850 Thunderclap headache 5851 Thymic epithelial tumor 5852 Thymic hyperplasia 5853 Thymic-Renal-Anal-Lung dysplasia 5854 Thymoma, childhood 5855 Thyrocerebral-retinal syndrome 5856 Thyroglossal tract cyst 5857 Thyroid agenesis 5858 Thyroid cancer, anaplastic
5859 Thyroid cancer, childhood 5860 Thyroid cancer, follicular 5861 Thyroid cancer, medullary 5862 Thyroid hormone plasma membrane transport defect 5863 Thyrotoxic periodic paralysis 5864 Thyrotropin deficiency, isolated 5865 Tibia absent polydactyly arachnoid cyst 5866 Tibiae bowed radial anomalies osteopenia fracture 5867 Tibial aplasia ectrodactyly hydrocephalus 5868 Tibial hemimelia cleft lip palate 5869 Tick paralysis 5870 Tick-borne encephalitis 5871 Tièche-Jadassohn nevus 5872 Tietz syndrome 5873 Tietze syndrome 5874 Tight skin contracture syndrome, lethal 5875 Tiglic acidemia 5876 T-Lymphocytopenia 5877 Togaviridae disease 5878 Tollner Horst Manzke syndrome 5879 Tolosa Hunt syndrome 5880 Tome Brunet Fardeau syndrome 5881 Tongue cancer 5882 Toni-Debre-Fanconi syndrome 5883 Toni-Fanconi syndrome 5884 Tonoki syndrome 5885 TORCH syndrome 5886 Torg Winchester syndrome 5887 Toriello Carey syndrome 5888 Torsion dystonia 5889 Torsion dystonia with onset in infancy 5890 Torticollis keloids cryptorchidism renal dysplasia 5891 Torticollis, familial 5892 Total Hypotrichosis, Mari type 5893 Townes-Brocks syndrome 5894 Toxic epidermal necrolysis 5895 Toxocariasis 5896 Trabecular fiber myopathy 5897 Tracheal agenesis 5898 Tracheal agenesis without tracheoesophageal fistula
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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
Page 17 and 18:
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
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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
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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 and 148: 5704 Superior limbic keratoconjunct
Page 149: 5781 T-cell immunodeficiency, conge
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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