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

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5977 Trisomy 3 mosaicism 5978 Trochlea of the humerus aplasia of 5979 Trochlear dysplasia 5980 Trophoblastic tumor placental site 5981 Tropical sprue 5982 Trueb Burg Bottani syndrome 5983 Trypanosomiasis, Human East-African 5984 Trypanosomiasis, Human West-African 5985 Tryptophanuria with dwarfism 5986 Tsukahara Azuno Kajii syndrome 5987 Tuberculosis 5988 Tuberculous meningitis 5989 Tuberculous uveitis 5990 Tuberous sclerosis 5991 Tuberous sclerosis, type 1 5992 Tuberous sclerosis, type 2 5993 Tubular aggregate myopathy 5994 Tubulointerstitial nephritis and uveitis 5995 Tucker syndrome 5996 Tufted angioma 5997 Tufted hair folliculitis 5998 Tufting enteropathy 5999 Tukel syndrome 6000 Tularemia 6001 Tungiasis 6002 Tunglang Savage Bellman syndrome 6003 Turcot syndrome 6004 Turner syndrome 6005 Twenty-nail dystrophy 6006 Twin twin transfusion syndrome 6007 Tylosis 6008 Tylosis with esophageal cancer 6009 Type 1 plasminogen deficiency 6010 Typhoid fever 6011 Typhus 6012 Tyrosinemia type 1 6013 Tyrosinemia type 2 6014 Tyrosinemia type 3 6015 Tyrosine-oxidase temporary deficiency 6016 Uhl anomaly
6017 Ulcerative proctitis 6018 Ulerythema ophryogenesis 6019 Ulna and fibula absence of with severe limb deficiency 6020 Ulna and fibula, hypoplasia of 6021 Ulna hypoplasia with mental retardation 6022 Ulna metaphyseal dysplasia syndrome 6023 Ulnar hypoplasia lobster claw deformity of feet 6024 Ulnar-mammary syndrome 6025 Umbilical cord ulceration and intestinal atresia 6026 Uncombable hair syndrome 6027 Uniparental disomy of 6 6028 Uniparental disomy of 13 6029 Uniparental disomy of chromosome 11 6030 Uniparental disomy of chromosome 2 6031 Uniparental disomy, paternal, chromosome 14 6032 Unna-Thost palmoplantar keratoderma 6033 Unverricht-Lundborg disease 6034 Upington disease 6035 Upton Young syndrome 6036 Urachal adenocarcinoma 6037 Urachal cancer 6038 Urachal cyst 6039 Urea cycle disorders 6040 Urethral cancer 6041 Urethral obstruction sequence 6042 Urocanase deficiency 6043 Urogenital adysplasia 6044 Urogenital adysplasia, hereditary 6045 Uropathy distal obstructive polydactyly 6046 Usher syndrome 6047 Usher syndrome type 2A 6048 Usher syndrome type 3 6049 Usher syndrome, type 1 6050 Usher syndrome, type 1B 6051 Usher syndrome, type 1C 6052 Usher syndrome, type 1D 6053 Usher syndrome, type 1E 6054 Usher syndrome, type 1F 6055 Usher syndrome, type 2B 6056 Usher syndrome, type 2C
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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
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3750 Mental retardation arachnodact
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3824 Methylmalonic acidemia with ho
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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 and 150: 5781 T-cell immunodeficiency, conge
Page 151 and 152: 5859 Thyroid cancer, childhood 5860
Page 153: 5939 Trichomalacia 5940 Trichomegal
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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