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

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6293 17q21.31 microdeletion syndrome 6294 17q23.1q23.2 microdeletion syndrome 6295 18 Hydroxylase deficiency 6296 19p13.12 microdeletion syndrome 6297 1q21.1 microdeletion syndrome 6298 1q44 microdeletion syndrome 6299 2,4-Dienoyl-CoA reductase deficiency 6300 21-hydroxylase deficiency 6301 22q11.2 deletion syndrome 6302 22q11.2 duplication syndrome 6303 22q13.3 deletion syndrome 6304 2-hydroxyethyl methacrylate sensitization 6305 2-Hydroxyglutaric aciduria 6306 2-methyl-3-hydroxybutyric aciduria 6307 2-Methylacetoacetyl CoA thiolase deficiency 6308 2-methylbutyryl-CoA dehydrogenase deficiency 6309 2q23.1 microdeletion syndrome 6310 2q37 deletion syndrome 6311 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency 6312 3 Methylcrotonyl-CoA carboxylase 1 deficiency 6313 3 methylglutaconic aciduria type I 6314 3 methylglutaconic aciduria type IV 6315 3 methylglutaconic aciduria type V 6316 3-alpha hydroxyacyl-CoA dehydrogenase deficiency 6317 3-beta-hydroxysteroid dehydrogenase deficiency 6318 3-Hydroxyisobutyric aciduria 6319 3M syndrome 6320 3-methylcrotonyl-CoA carboxylase deficiency 6321 3-methylglutaconic aciduria type III 6322 3p deletion syndrome 6323 46, XY disorders of sexual development 6324 46,XX Gonadal dysgenesis epibulbar dermoid 6325 46,XX testicular disorder of sex development 6326 47 XXX syndrome 6327 47, XYY syndrome 6328 48,XXXY syndrome 6329 48,XXYY syndrome 6330 49,XXXXX syndrome 6331 49,XXXXY syndrome 6332 49,XXXYY syndrome
Note: 6333 4-hydroxyphenylacetic aciduria 1. All the data is from online resources and to our interpretations. The data is for information. 2. IPR & Regulatory Centre at Pharmexcil is not liable for any discrepancies in the data provided. 3. The legal status has to be periodically confirmed with country’s regulatory authority. 4. Orphan drug products/Orphan diseases are categorized based on country’s designation criteria.
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Table 4: List of Rare Diseases and
Page 3 and 4:
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
Page 17 and 18:
621 Becker muscular dystrophy 622 B
Page 19 and 20:
699 Blastoma 700 Blastomycosis 701
Page 21 and 22:
777 Braddock Jones Superneau syndro
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857 Camurati-Engelmann disease 858
Page 25 and 26:
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
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3977 Muckle-Wells syndrome 3978 Muc
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4055 Myasthenia gravis 4056 Myasthe
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4134 Nance-Horan syndrome 4135 Narc
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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 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: 6253 X-linked mental retardation Gu
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Table 4: List of Rare Diseases and Related Terms as per US ...

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