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RARE DISEASES IN INDIA

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

 

ORDI Webinar Series
Upcoming Events

Our Executive Director Mr. Prasanna Shirol was a part of First Ever summit dedicated to advancing equitable care for rare diseases in older adults. The meeting was attended from 25 countries across Canada, Latin America, Europe, and Asia, representing patient and caregiver communities, patient advocates, healthcare professionals, and healthcare policy experts. This is a short video highlighting the impact of the initiative to date, in the words of the COLLABORATE Community.

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