| Sl. No. | Name of the Rare Disease in India |
|---|---|
| Acanthocytosis Chorea | |
| Achalasia Cardia | |
| Acromesomelic Dysplasia | |
| Acute Inflammatory Demyelinating Polyneuropathy (AIDP) | |
| Acute Lympoblastic Lukemea | |
| Adisons Disease | |
| Adrenoleukodystrophy(ALD) | |
| Aidp | |
| ALAGILLE SYNDROME | |
| Alkaptonuria | |
| Alkaptonuria | |
| Alzheimer’s Disease | |
| Amyloid Neuropathy | |
| Amyloidosis | |
| Amyotrophic Lateral Sclerosis | |
| Angelman Syndrome | |
| ANGELMAN SYNDROME | |
| Ankylosing Spondolytis | |
| Anorchia | |
| Anterior Horn Cell Disease (AHCD) | |
| Apert Syndrome | |
| Arthrogryposis, Distal-5D | |
| Ataxia | |
| ATAXIA TELANGIECTASIA | |
| Auto Immune Disease | |
| Aplastic Anaemia | |
| Autosomal Recessive Polycystic Kidney Disease | |
| Bannayan Riley Ruvalcaba Syndrome | |
| Batten Diseases | |
| Becker's Nevus. | |
| Bilateral Anorchia | |
| Bilateral cystoid macular edema | |
| Biotinidase Deficiency | |
| Brook Speigler Syndrome (Cylindroma) | |
| Budd Chiari Syndrome | |
Camptodactyly-Arthropathy-Coxavara-Pericarditis Syndrome (Common Mutation) |
|
| CANAVAN DISEASE | |
| Cartilage Hair Hypoplasia | |
| Celiac Disease | |
| Cerebellar Ataxia | |
| Cerebrotendinous Xanthamatosis | |
| Chaple Syndrome | |
| Charcot Marie Tooth | |
| Charcot-Marie-Tooth Disorder (CMT) | |
| Chronic Granulomatous Disease (CGD) | |
| Chronic Infantile Neurologic Cutaneous Articular Syndrome | |
| Chronic Kidney Disease | |
| CHST3 Related Disorder (SED- Omani) | |
| Cockayne Syndrome | |
| Cold Urticaria | |
| Common Variable Immune Deficiency (CVID) | |
| Complex Regional Pain Syndrome(CRPS) | |
| Cone Rod Dystrophy | |
| Congenital Contractural Arachnodactyly | |
| Congenital Glaucoma | |
| Congenital Hyperinsulinism | |
| Congenital Myasthenia Gravis | |
| Congenital Myopathy | |
| Congenital Nephrotic Syndrome | |
| Creutzfeldt-Jakob disease (CJD) | |
| Criggler Najjar Syndrome | |
| Cryopyrin-Associated Periodic Syndrome (CAPS) | |
| Cushings Syndrome | |
| Cutis Laxa | |
| Cystic Fibrosis | |
| Dense Deposit Disease | |
| Dentinogenesis Imperfecta Type 2 | |
| Diastrophic Dysplasia | |
| DUCHENNE MUSCULAR DYSTROPHY(DMD) | |
| Dysferlinopathy | |
| Ectodermal Dysplasia(ED) | |
| Enthesitis Related Arthritis | |
| Episodic Ataxia | |
| Fabry Disease | |
| Facioscapulohumeral Muscular Dystrophy (FSHD) | |
| Familial Mediterranean Fever (Common Mutation) | |
| Farber Disease (ACID CERAMIDASE DEFICIENCY) | |
| Fetal Valproate Syndrome | |
| Fibromylagia | |
| Fibrous Dyslapsia | |
| Fish Odor Syndrome | |
| Fragile X Syndrome | |
| Friedreich’s Ataxia | |
| Fructose 1,6 Bisphosphatase Deficiency | |
| Gaucher Disease | |
| Gdd | |
| Glandular Cheilitis | |
| Glutaric Acidemia Type II | |
| Gluten Ataxia | |
| GM1 Gangliosidosis | |
| GM2 Gangliosidosis | |
| Goldenhar Syndrome | |
| Goodpastue Syndrome | |
| Generalized Pustular Psoriasis(GPP) | |
| Granulomatosis with polyangiitis (GPA) | |
| Guillain Barre Syndrome | |
| Haemangioma | |
| Hajdu-Cheney Syndrome | |
| Hallermann-Streiff syndrome (HSS) | |
| Hemophagocytic lymphohistiocytosis (HLH | |
| Hereditary Sensory Motor Neuropathy | |
| Hereditary Spastic Paraplegia (HSP) | |
| Hirayama Disease | |
| Hirschsprung’s disease | |
| HMSN Type I | |
| Hunter Syndrome (MPS II) | |
| Hurler Syndrome (MPS I) | |
| Hydrocephalus | |
| Hyperammonia Carbonic Anhydrase Deficency | |
| Hyperuricemic Nephropathy, Familial Juvenile 1 | |
| IEM Disorders – (Inborn errors of metabolism) | |
| IGGR4 | |
| Infantile Systemic Hyalinosis/ Juvenile Hyaline Fibromatosis | |
| Interstitial Cystitis | |
| Intestinal Cancer | |
| ITP (Immune Thrombocytopenia) Blood Disorder | |
| Jansen’s metaphyseal chondrodysplasia (JMC) | |
| Johanson Blizzard Syndrome | |
| Joubert Syndrome | |
| Kabuki Syndrome | |
| Kearns-Sayre syndrome (KSS) | |
| Kleeftra Syndrome | |
| Klinefelter Syndrome | |
| KMT2B Childhood Dystonia | |
| Krabbie Disease | |
| Lamellar Ichthyosis | |
| Lawrence Moon Biedl Syndrome | |
| Leber Congenital Amaurosis | |
| Leigh syndrome | |
| Lennox Gastaut Syndrome | |
| Limb Gridle Muscular Dystrophy | |
| Lion Face Syndrome | |
| Lipid Storage Disease | |
| Lupus Nephritis | |
| Lysosomal Storage Disorders | |
| Maple Syrup Urine Disease | |
| Maple syrup urine disease | |
| Maple Syrup Urine Disease | |
| Marcus Gunn Syndrome | |
| Marie’s Ataxia/Olivopontocerebellar Atrophy (OPCA) | |
| Maroteaux-Lamy Syndrome (MPS VI) | |
| Mayer-Rokitansky-Kuster-Hauser(MRKH) Syndrome | |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome |
|
| Melnickneedles Syndrome (Exon22) | |
| Menière Disease | |
| Menkey Kinky Hair Disease | |
| Metachromatic Leukodystrophy (Saposinb) | |
| Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) | |
| Mitochondrial Neurogastrointestinalencephalomyopathy (MNGIE) | |
| Mitrochondrial Disorder | |
| MMA ( Methyl Malonic Acid) | |
| Moebius Syndrome | |
| Morquio A Syndrome | |
| Morquio B Syndrome And GM1 Gangliosidosis | |
| Motor Neuron Disease Bulbor Palsy | |
| Motor Neurone Disease(MND) | |
| Moyamoya Disease | |
| MPS I-H/ Hurler | |
| MPS I-HS/Hurler-Scheie syndrome | |
| MPS I-S/ Scheie syndrome | |
| MPS II/Hunter Syndrome | |
| MPS III A/ Sanfilippo A | |
| MPS III B/Sanfilippo B | |
| MPS IV A/Morquio A | |
| MPS IV B/ Morquio B | |
| MPS IX Hyaluronidase Deficiency | |
| MPS VI/Maroteaux- Lamy Syndrome | |
| Muccopolysaccaroidis | |
| Mucolipidosis II(I cell Disorder) | |
| Multicentric Reticulohistiocytosis | |
| Multicystic Dysplastic Kidney | |
| Multiple Endocrine Neoplasia | |
| Multiple Sclerosis | |
| Myalgic Encephalomyelitis | |
| Myelopathy | |
| Myotonia Congenital | |
| Nephropathic Cystinosis | |
| Netherton Syndrome | |
| Neurofibromatosis | |
| Neurofibromatosis Type 1 | |
| Neurofibromatosis Type II (NF Type II) | |
| Neuromyelitis Optica Spectrum Disorder | |
| Neuronal Ceroid-Lipofuscinoses(NCL) | |
| Niemann Pick A | |
| Niemann Pick B | |
| Niemann–Pick | |
| Nodular Prurigo | |
| Noonan Syndrome | |
| Obsessive Compulsive Disorder | |
| Occipital Horn Syndrome; SMA TYPE V | |
| Oculodentodigital Syndrome | |
| Osteogenesis Imperfecta | |
| Otopalatodigitalsyndrome (Exon 3,4,5) | |
| Pachydermoperiostosis | |
| Pantothenate kinase-associated neurodegeneration (PKAN) | |
| Paraneoplastic Cerebellar Degeneration (PCD) | |
| Partial Androgen Insensitivity Syndrome | |
| Pemphigus Vulgaris | |
| Persistent hyperplastic primary vitreous (PHPV) | |
| Persistentmullerian Duct Syndrome | |
| Pfieffer Syndrome | |
| Phelan McDermid Syndrome | |
| Phenylketonuria | |
| Pierre Robin Syndrome | |
| Pigmented villonodular synovitis (PVNS) | |
| Pineal Cyst | |
| Pompe Disease/GSD Type II | |
| Prader Willi Syndrome | |
| Primary Dystonia Type I | |
| Primary Immunodeficiency | |
| Progeria | |
| Progressive Myoclonic Epilepsy With Ataxia | |
| Progressive Pseudorheumatoid Dysplasia | |
| Prurigo Nodularis | |
| Pseudohypoaldosteronism Type 1 | |
| Pulmonary arterial hypertension | |
| Pulmonary Fibrosis | |
| Raine Syndrome (RNS) or Osteosclerotic Bone Dysplasia | |
| Retinitis Pigmentosa | |
| Rett Syndrome | |
| Rhizomelic chondrodysplasia punctata | |
| Rhynites | |
| Robinow Syndrome | |
| Rp-Eye | |
| Sarcoma (Suspected) | |
| Scleroderma | |
| Shprintzen-Goldberg | |
| Sialidosis (Mucolipidosis) | |
| SIDS - Sudden Infant Death Syndrome | |
| Sjögren’s Syndrome | |
| Sotos Syndrome | |
| SPINA Bifida & Hydrocephalus Awareness | |
| Spinal Muscular Atrophy (SMA) | |
| Spino Cerebellar Ataxia Type 3(SCA Type 3) | |
| Spinocerebellar Ataxias (SCA’s)(Type 1 to19) | |
| Spodylocostal Dysostosis 1 | |
| Spodylocostal Dysostosis 2 | |
| Spodylocostal Dysostosis 3 | |
| Spodylocostal Dysostosis 4 | |
| Spodylocostal Dysostosis 5 | |
| Spodylothoracicdysostosis /Jarcho Levin Syndrome | |
| Steven Johnson Syndrome (Sjs | |
| Sticklers Syndrome | |
| Stiff Person Syndrome | |
| Sturge Weber Syndrome (SWS) | |
| Systemic lupus erythematosus (SLE) | |
| Systemic onset Juvenile Idiopathic Arthritis (SoJIA) | |
| Tarlov Cyst | |
| Tay Sachs Disease | |
| Tay-Sachs | |
| Thyroceme Type 1 | |
TNF Receptor-Associated Periodic Fever Syndrome (TRAPS) (Common Mutation) |
|
| Torg - Winchester Syndrome | |
| Transverse Myelitis | |
| Tuberous Sclerosis | |
| Ulcerative colitis/ Inflammatory Bowel Disease (IBD) | |
| Usher Syndrome | |
| Vasculitis | |
| Vitiligo | |
| Von Hippellindau Syndrome | |
| Waardenburg Syndrome | |
| Warburg Micro Syndrome | |
| Willams Sundrome | |
| Wilson Disease | |
| Wolfram Syndrome |
