| Sl. No. | Name of the Rare Disease 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 |
