RARE DISEASES 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