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

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5899 Tracheobronchomalacia 5900 Tracheobronchomegaly 5901 Tracheobronchopathia osteoplastica 5902 Tracheoesophageal fistula 5903 Tracheoesophageal fistula symphalangism 5904 Tracheophageal fistula hypospadias 5905 Trachoma 5906 Tranebjaerg Svejgaard syndrome 5907 Transaldolase deficiency 5908 Transcobalamin 1 deficiency 5909 Transient acantholytic dermatosis 5910 Transient bullous dermolysis of the newborn 5911 Transient erythroblastopenia of childhood 5912 Transient global amnesia 5913 Transient neonatal arthrogryposis 5914 Transient neonatal diabetes mellitus 5915 Transitional cell carcinoma 5916 Transposition of the great arteries 5917 Transverse limb deficiency hemangioma 5918 Transverse myelitis 5919 Treacher Collins syndrome 5920 Treacher Collins syndrome 3 5921 Treft Sanborn Carey syndrome 5922 Trehalase deficiency 5923 Tremor hereditary essential, 1 5924 Tremor hereditary essential, 2 5925 Tremors, nystagmus and duodenal ulcers 5926 Treponema infection 5927 Trichinosis 5928 Tricho odonto onycho dermal syndrome 5929 Tricho odonto onychodysplasia syndactyly dominant type 5930 Tricho onychic dysplasia 5931 Tricho onycho hypohidrotic dysplasia 5932 Tricho retino dento digital syndrome 5933 Trichodental syndrome 5934 Tricho-dento-osseous syndrome 5935 Tricho-dento-osseous syndrome 1 5936 Trichodysplasia xeroderma 5937 Trichofolliculoma 5938 Tricho-hepato-enteric syndrome
5939 Trichomalacia 5940 Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 5941 Trichomegaly, cataract, and hereditary spherocytosis 5942 Trichoodontoonychial dysplasia 5943 Trichorhinophalangeal syndrome type 1 5944 Trichorhinophalangeal syndrome type 2 5945 Trichorhinophalangeal syndrome type 3 5946 Trichorrhexis nodosa syndrome 5947 Trichoscyphodysplasia 5948 Trichostasis spinulosa 5949 Trichothiodystrophy nonphotosensitive 5950 Trichothiodystrophy photosensitive 5951 Trichotillomania 5952 Trichuriasis 5953 Tricuspid atresia 5954 Trigeminal neuralgia 5955 Trigger thumb 5956 Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 5957 Trigonocephaly bifid nose acral anomalies 5958 Trigonocephaly ptosis mental retardation 5959 Trigonomacrocephaly tibial defect polydactyly 5960 Trihydroxycholestanoylcoa oxidase isolated deficiency 5961 Trimethylaminuria 5962 Triopia 5963 Triose phosphate-isomerase deficiency 5964 Triphalangeal thumb non opposable 5965 Triphalangeal thumb polysyndactyly syndrome 5966 Triphalangeal thumbs brachyectrodactyly 5967 Triple A syndrome 5968 Triploidy 5969 Trismus-pseudocamptodactyly syndrome 5970 Trisomy 11 mosaicism 5971 Trisomy 12 mosaicism 5972 Trisomy 13 5973 Trisomy 17 mosaicism 5974 Trisomy 18 5975 Trisomy 2 mosaicism 5976 Trisomy 22
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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
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 and 150: 5781 T-cell immunodeficiency, conge
Page 151: 5859 Thyroid cancer, childhood 5860
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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