RARE DISEASES IN INDIA

RARE DISEASES IN INDIA

  1. Acanthocytosis Chorea
  2. Achalasia Cardia
  3. Acromesomelic Dysplasia
  4. Acute Inflammatory Demyelinating Polyneuropathy (AIDP)
  5. Acute Lympoblastic Lukemea
  6. Adisons Disease
  7. Adrenoleukodystrophy(ALD)
  8. Aidp
  9. ALAGILLE SYNDROME
  10. Alkaptonuria
  11. Alkaptonuria
  12. Alzheimer’s Disease
  13. Amyloid Neuropathy
  14. Amyloidosis
  15. Amyotrophic Lateral Sclerosis
  16. Angelman Syndrome
  17. ANGELMAN SYNDROME
  18. Ankylosing Spondolytis
  19. Anorchia
  20. Anterior Horn Cell Disease (AHCD)
  21. Apert Syndrome
  22. Arthrogryposis, Distal-5D
  23. Ataxia
  24. ATAXIA TELANGIECTASIA
  25. Auto Immune Disease
  26. Aplastic Anaemia
  27. Autosomal Recessive Polycystic Kidney Disease
  28. Bannayan Riley Ruvalcaba Syndrome
  29. Batten Diseases
  30. Becker’s Nevus.
  31. Bilateral Anorchia
  32. Bilateral cystoid macular edema
  33. Biotinidase Deficiency
  34. Brook Speigler Syndrome (Cylindroma)
  35. Budd Chiari Syndrome
  36. Camptodactyly-Arthropathy-Coxavara-Pericarditis Syndrome (Common Mutation)
  37. CANAVAN DISEASE
  38. Cartilage Hair Hypoplasia
  39. Celiac Disease
  40. Cerebellar Ataxia
  41. Cerebrotendinous Xanthamatosis
  42. Chaple Syndrome
  43. Charcot Marie Tooth
  44. Charcot-Marie-Tooth Disorder (CMT)
  45. Chronic Granulomatous Disease (CGD)
  46. Chronic Infantile Neurologic Cutaneous Articular Syndrome
  47. Chronic Kidney Disease
  48. CHST3 Related Disorder (SED- Omani)
  49. Cockayne Syndrome
  50. Cold Urticaria
  51. Common Variable Immune Deficiency (CVID)
  52. Complex Regional Pain Syndrome(CRPS)
  53. Cone Rod Dystrophy
  54. Congenital Contractural Arachnodactyly
  55. Congenital Glaucoma
  56. Congenital Hyperinsulinism
  57. Congenital Myasthenia Gravis
  58. Congenital Myopathy
  59. Congenital Nephrotic Syndrome
  60. Creutzfeldt-Jakob disease (CJD)
  61. Criggler Najjar Syndrome
  62. Cryopyrin-Associated Periodic Syndrome (CAPS)
  63. Cushings Syndrome
  64. Cutis Laxa
  65. Cystic Fibrosis
  66. Dense Deposit Disease
  67. Dentinogenesis Imperfecta Type 2
  68. Diastrophic Dysplasia
  69. DUCHENNE MUSCULAR DYSTROPHY(DMD)
  70. Dysferlinopathy
  71. Ectodermal Dysplasia(ED)
  72. Enthesitis Related Arthritis
  73. Episodic Ataxia
  74. Fabry Disease
  75. Facioscapulohumeral Muscular Dystrophy (FSHD)
  76. Familial Mediterranean Fever (Common Mutation)
  77. Farber Disease (ACID CERAMIDASE DEFICIENCY)
  78. Fetal Valproate Syndrome
  79. Fibromylagia
  80. Fibrous Dyslapsia
  81. Fish Odor Syndrome
  82. Fragile X Syndrome
  83. Friedreich’s Ataxia
  84. Fructose 1,6 Bisphosphatase Deficiency
  85. Gaucher Disease
  86. Gdd
  87. Glandular Cheilitis
  88. Glutaric Acidemia Type II
  89. Gluten Ataxia
  90. GM1 Gangliosidosis
  91. GM2 Gangliosidosis
  92. Goldenhar Syndrome
  93. Goodpastue Syndrome
  94. Generalized Pustular Psoriasis(GPP)
  95. Granulomatosis with polyangiitis (GPA)
  96. Guillain Barre Syndrome
  97. Haemangioma
  98. Hajdu-Cheney Syndrome
  99. Hallermann-Streiff syndrome (HSS)
  100. Hemophagocytic lymphohistiocytosis (HLH
  101. Hereditary Sensory Motor Neuropathy
  102. Hereditary Spastic Paraplegia (HSP)
  103. Hirayama Disease
  104. Hirschsprung’s disease
  105. HMSN Type I
  106. Hunter Syndrome (MPS II)
  107. Hurler Syndrome (MPS I)
  108. Hydrocephalus
  109. Hyperammonia Carbonic Anhydrase Deficency
  110. Hyperuricemic Nephropathy, Familial Juvenile 1
  111. IEM Disorders – (Inborn errors of metabolism)
  112. IGGR4
  113. Infantile Systemic Hyalinosis/ Juvenile Hyaline Fibromatosis
  114. Interstitial Cystitis
  115. Intestinal Cancer
  116. ITP (Immune Thrombocytopenia) Blood Disorder
  117. Jansen’s metaphyseal chondrodysplasia (JMC)
  118. Johanson Blizzard Syndrome
  119. Joubert Syndrome
  120. Kabuki Syndrome
  121. Kearns-Sayre syndrome (KSS)
  122. Kleeftra Syndrome
  123. Klinefelter Syndrome
  124. KMT2B Childhood Dystonia
  125. Krabbie Disease
  126. Lamellar Ichthyosis
  127. Lawrence Moon Biedl Syndrome
  128. Leber Congenital Amaurosis
  129. Leigh syndrome
  130. Lennox Gastaut Syndrome
  131. Limb Gridle Muscular Dystrophy
  132. Lion Face Syndrome
  133. Lipid Storage Disease
  134. Lupus Nephritis
  135. Lysosomal Storage Disorders
  136. Maple Syrup Urine Disease
  137. Maple syrup urine disease
  138. Maple Syrup Urine Disease
  139. Marcus Gunn Syndrome
  140. Marie’s Ataxia/Olivopontocerebellar Atrophy (OPCA)
  141. Maroteaux-Lamy Syndrome (MPS VI)
  142. Mayer-Rokitansky-Kuster-Hauser(MRKH) Syndrome
  143. Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
  144. Melnickneedles Syndrome (Exon22)
  145. Menière Disease
  146. Menkey Kinky Hair Disease
  147. Metachromatic Leukodystrophy (Saposinb)
  148. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
  149. Mitochondrial Neurogastrointestinalencephalomyopathy (MNGIE)
  150. Mitrochondrial Disorder
  151. MMA ( Methyl Malonic Acid)
  152. Moebius Syndrome
  153. Morquio A Syndrome
  154. Morquio B Syndrome And GM1 Gangliosidosis
  155. Motor Neuron Disease Bulbor Palsy
  156. Motor Neurone Disease(MND)
  157. Moyamoya Disease
  158. MPS I-H/ Hurler
  159. MPS I-HS/Hurler-Scheie syndrome
  160. MPS I-S/ Scheie syndrome
  161. MPS II/Hunter Syndrome
  162. MPS III A/ Sanfilippo A
  163. MPS III B/Sanfilippo B
  164. MPS IV A/Morquio A
  165. MPS IV B/ Morquio B
  166. MPS IX Hyaluronidase Deficiency
  167. MPS VI/Maroteaux- Lamy Syndrome
  168. Muccopolysaccaroidis
  169. Mucolipidosis II(I cell Disorder)
  170. Multicentric Reticulohistiocytosis
  171. Multicystic Dysplastic Kidney
  172. Multiple Endocrine Neoplasia
  173. Multiple Sclerosis
  174. Myalgic Encephalomyelitis
  175. Myelopathy
  176. Myotonia Congenital
  177. Nephropathic Cystinosis
  178. Netherton Syndrome
  179. Neurofibromatosis
  180. Neurofibromatosis Type 1
  181. Neurofibromatosis Type II (NF Type II)
  182. Neuromyelitis Optica Spectrum Disorder
  183. Neuronal Ceroid-Lipofuscinoses(NCL)
  184. Niemann Pick A
  185. Niemann Pick B
  186. Niemann–Pick
  187. Nodular Prurigo
  188. Noonan Syndrome
  189. Obsessive Compulsive Disorder
  190. Occipital Horn Syndrome; SMA TYPE V
  191. Oculodentodigital Syndrome
  192. Osteogenesis Imperfecta
  193. Otopalatodigitalsyndrome (Exon 3,4,5)
  194. Pachydermoperiostosis
  195. Pantothenate kinase-associated neurodegeneration (PKAN)
  196. Paraneoplastic Cerebellar Degeneration (PCD)
  197. Partial Androgen Insensitivity Syndrome
  198. Pemphigus Vulgaris
  199. Persistent hyperplastic primary vitreous (PHPV)
  200. Persistentmullerian Duct Syndrome
  201. Pfieffer Syndrome
  202. Phelan McDermid Syndrome
  203. Phenylketonuria
  204. Pierre Robin Syndrome
  205. Pigmented villonodular synovitis (PVNS)
  206. Pineal Cyst
  207. Pompe Disease/GSD Type II
  208. Prader Willi Syndrome
  209. Primary Dystonia Type I
  210. Primary Immunodeficiency
  211. Progeria
  212. Progressive Myoclonic Epilepsy With Ataxia
  213. Progressive Pseudorheumatoid Dysplasia
  214. Prurigo Nodularis
  215. Pseudohypoaldosteronism Type 1
  216. Pulmonary arterial hypertension
  217. Pulmonary Fibrosis
  218. Raine Syndrome (RNS) or Osteosclerotic Bone Dysplasia
  219. Retinitis Pigmentosa
  220. Rett Syndrome
  221. Rhizomelic chondrodysplasia punctata
  222. Rhynites
  223. Robinow Syndrome
  224. Rp-Eye
  225. Sarcoma (Suspected)
  226. Scleroderma
  227. Shprintzen-Goldberg
  228. Sialidosis (Mucolipidosis)
  229. SIDS – Sudden Infant Death Syndrome
  230. Sjögren’s Syndrome
  231. Sotos Syndrome
  232. SPINA Bifida & Hydrocephalus Awareness
  233. Spinal Muscular Atrophy (SMA)
  234. Spino Cerebellar Ataxia Type 3(SCA Type 3)
  235. Spinocerebellar Ataxias (SCA’s)(Type 1 to19)
  236. Spodylocostal Dysostosis 1
  237. Spodylocostal Dysostosis 2
  238. Spodylocostal Dysostosis 3
  239. Spodylocostal Dysostosis 4
  240. Spodylocostal Dysostosis 5
  241. Spodylothoracicdysostosis /Jarcho Levin Syndrome
  242. Steven Johnson Syndrome (Sjs
  243. Sticklers Syndrome
  244. Stiff Person Syndrome
  245. Sturge Weber Syndrome (SWS)
  246. Systemic lupus erythematosus (SLE)
  247. Systemic onset Juvenile Idiopathic Arthritis (SoJIA)
  248. Tarlov Cyst
  249. Tay Sachs Disease
  250. Tay-Sachs
  251. Thyroceme Type 1
  252. TNF Receptor-Associated Periodic Fever Syndrome (TRAPS) (Common Mutation)
  253. Torg – Winchester Syndrome
  254. Transverse Myelitis
  255. Tuberous Sclerosis
  256. Ulcerative colitis/ Inflammatory Bowel Disease (IBD)
  257. Usher Syndrome
  258. Vasculitis
  259. Vitiligo
  260. Von Hippellindau Syndrome
  261. Waardenburg Syndrome
  262. Warburg Micro Syndrome
  263. Willams Sundrome
  264. Wilson Disease
  265. Wolfram Syndrome

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