| Sl No. | List of Rare Diseases Registered with ORDI |
| 1 | AADC: Aromatic l-amino acid decarboxylase deficiency |
| 2 | Abernathy Syndrome |
| 3 | Achondroplasia |
| 4 | Acute Inflammatory Demyelinating Polyradiculopathy (AIDP) |
| 5 | Acute Intermittent Porphyria |
| 6 | Acute transverse myelitis |
| 7 | Addisons disease |
| 8 | Adrenoleukodystrophy |
| 9 | Adult Hypophosphatasia |
| 10 | Aicardi Goutieres Syndrome |
| 11 | Alagille Syndrome |
| 12 | Alkaptonuria |
| 13 | Alpha thalassemia |
| 14 | ALS |
| 15 | Alternating Hemiplegia of Childhood (APT1A3 genetic variation) |
| 16 | Alzheimer’s disease |
| 17 | Amino Acid metabolism Disorder |
| 18 | Amniotic band syndrome |
| 19 | Amyloidosis |
| 20 | Amyotrophic lateral sclerosis |
| 21 | Anal Stricture |
| 22 | Angelman syndrome , Maternal imprinting |
| 23 | Ankylosing Spondylitis |
| 24 | Anorchia |
| 25 | Anterior Horn cell Disease |
| 26 | Apert Syndrome |
| 27 | Aplastic Anemia |
| 28 | Arboleda tham syndrome |
| 29 | AROMATIC L- AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY |
| 30 | Arteriovenous Malformation on Right cheek |
| 31 | Arthrogryposis Multiplex Congenita (AMC) |
| 32 | Asah1 gene related anterior Horn disease |
| 33 | ATTR CARDIAC AMYLOIDOSIS |
| 34 | Autoimmune encephalitis |
| 35 | Autoimmune hemolytic anemia |
| 36 | Azoospermia |
| 37 | Bannayan Riley Ruvalcaba Syndrome |
| 38 | BBS7 ( Bardet Biedl syndrome 7) |
| 39 | Becker Muscular Dystrophy (BMD) |
| 40 | Behcet syndrome |
| 41 | Bernard soulier syndrome |
| 42 | Beta thalassemia |
| 43 | Bethlem myopathy 1 ; Ullrich Congenital muscular dystrophy 1 |
| 44 | Bilateral cystoid macular edema. , atypical retinitis pigmentosa. |
| 45 | Billiary Atresia |
| 46 | Biotinidase deficiency |
| 47 | Blue rubber bleb nevus syndrome |
| 48 | BRIC-BENIGN RECURRENT INTRAHEPATIC CHOLESTATIS |
| 49 | Budd Chiari Syndrome |
| 50 | Bulbar onset Motor Neuron Disease |
| 51 | Calpainopathy |
| 52 | Canavan disease |
| 53 | Catarcts neurologic and neutropenia ( 3-methylglutaconic aciduria) |
| 54 | CBLC DEFICIENCY ( Cobalamine C deficiency ) |
| 55 | CCHS (Congenital central hypoventilation syndrome) |
| 56 | CDKL5 Deficiency Disorder |
| 57 | Central Hypotonia |
| 58 | Cerebellar Ataxia |
| 59 | Cerebellar Atrophy/ Ataxia like symptoms |
| 60 | CES (Cauda equina syndrome) |
| 61 | CGD (Chronic Granulomatous Disease) Type2 |
| 62 | Chaple syndrome (CD55 deficiency) |
| 63 | Charcot marie tooth 2 |
| 64 | Charcot marie tooth 2F |
| 65 | Charcot marie tooth 4C |
| 66 | Charcot marie tooth 4J |
| 67 | CHI ( Congenital Hyperinsulinism ) |
| 68 | Chronic bullous disease in children (CBDC) |
| 69 | Chronic granulomatous disease |
| 70 | CIDP (Chronic inflammatory demyelinating polyradiculoneuropathy) |
| 71 | Ciliary dyskinesia, primary 25 |
| 72 | Citrullinemia |
| 73 | Classical Homcystinuria |
| 73 | CLN2 Disorder |
| 74 | CLN6 |
| 75 | CLN8 DELETION |
| 76 | Coagulant factor XI deficiency |
| 77 | COATS DISEASE |
| 78 | Coffin-Siris Syndrome |
| 79 | COL2A1 associated disorder |
| 80 | Common Variable Immuno Deficiency (CVID) |
| 81 | Complete AV canal defect and Chromosome 3p syndrome |
| 82 | CONGENITAL FIBERTYPE DISPROPORTION MYOPATHY |
| 83 | Congenital Glaucoma |
| 84 | Congenital Methemoglobinemia Type 2 & HexoKinase 1 deficiency [ NEDVIBA ] |
| 85 | CONGENITAL MUSCULAR DYSTROPHY |
| 86 | Congenital myasthenic Syndrome 7 |
| 87 | Congenital Myopathy |
| 88 | Congenital Pseudarthrosis of the Tibia |
| 89 | Congenital Split Hand Foot Anomaly |
| 90 | Congential Hypomyelinating neuropathy-3 ( GENE CNTNAP1 (+) ) |
| 91 | Creutzfeldt-Jakob disease |
| 92 | Criggler Najjar Syndrome |
| 93 | Crohn’s disease |
| 94 | Cushing Syndrome |
| 95 | CVI [ cortical visual impairment ] / GDD [Cerebral Palsy] |
| 96 | Cystic Fibrosis |
| 97 | Dense Deposit Disease |
| 98 | Dermatomyositis |
| 99 | DiGeorge Syndrome |
| 100 | DLS (Dysfunctional lens syndrome) |
| 101 | Dopa responsive dystonia |
| 102 | Dorsal / Spinal cord Nerves disease |
| 103 | DorsoLumbar MMC |
| 104 | Down Syndrome |
| 105 | Dravet syndrome |
| 106 | Duchenne Muscular Dystrophy |
| 107 | Dysferlinopathy |
| 108 | Dysmorphism & Delayed Speech |
| 109 | Dystrophic Epidermolysis Bullosa |
| 110 | Ectodermal Dysplasia |
| 111 | Ehlers Danlos syndrome |
| 112 | Eisenmenger’s syndrome |
| 113 | Encephalitic sequelae |
| 114 | Enthesitis related Artheritis |
| 115 | Eosinophilic enteritis |
| 116 | Epidermolysis Bullosa |
| 117 | ERDHEIM CHESTER DISEASE |
| 118 | Eye/PHPV (Persistent hyperplastic primary vitreous) |
| 119 | Eye-RP (Retinitis pigmentosa) |
| 120 | Fabry Disease |
| 121 | Facioscapulohumeral muscular dystrophy (FSHD) |
| 122 | Factor xiii deficiency |
| 123 | Familial Amyloid Neuropathy TTR type |
| 124 | Familial hypercholesterolemia |
| 125 | Familial motor neurone disease (2110 MAcf1 g nutation) |
| 126 | Fanconi anemia |
| 127 | FANCONI BICKEL SYNDROME |
| 128 | FAP ( Familial adenomatous polyposis) |
| 129 | Fibrodysplasia Ossificans progressiva |
| 130 | Fibrous Dyslapsia |
| 131 | Fish odor syndrome |
| 132 | Floppy Infant Syndrome |
| 133 | Focal Segmental Glomerulosclerosis/Alport Syndrome |
| 134 | Friedreich’s ataxia |
| 135 | FSHD Muscular Dystrophy |
| 136 | G.B.S. Guillain Barre Syndrome |
| 137 | G6PD |
| 138 | GA 2 (Glutaric acidemia type2) |
| 139 | Gangliosidosis type 1 |
| 140 | Gaucher 1 |
| 141 | Gaucher 2 |
| 142 | Gaucher 3 |
| 143 | GC For Vitiligo |
| 144 | Generalised Chorea – Huntington disease |
| 145 | Generalized epilepsy with febrile seizures plus (GEFS+) |
| 146 | Generalized Pustular Psoriasis |
| 147 | Giant Cell Tumor |
| 148 | Giant Congenital Melanocytic Nevus |
| 149 | Gitelman Syndrome |
| 150 | Glandular Cheilitis |
| 151 | Glanzmann thrombasthenia |
| 152 | GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY – HEMOLYTIC ANEMIA |
| 153 | GLYCOGEN STORAGE DISEASE II (POMPE DISEASE) |
| 154 | GM 1 Gangliosidosis |
| 155 | Goldenhar Syndrome |
| 156 | GOODPASTURE SYNDROME |
| 157 | GPA disease (Granulomatosis with polyangiitis) |
| 158 | Graves’ disease and Thyroid Eye Disease(TED) |
| 159 | GSD 1 |
| 160 | GSD type 3 |
| 161 | H Syndrome |
| 162 | Haemangioma |
| 163 | Haemophilia A – Severe |
| 164 | Hemolytic Anemia / Hereditary Spherocytosis |
| 165 | Hemophilia B |
| 166 | Hereditary Fructose Intolerance |
| 167 | Hereditary leukoencephalopathy with axonal spheroids |
| 168 | Hereditary pancreatitis |
| 169 | Hereditary Sensori Motor Neuropathy Type I |
| 170 | Hereditary Spastic Paraplegia 56 |
| 171 | Hereditary Spastic paraplegia SPG84 |
| 172 | HFS ( Hyaline Fibromatosis syndrome) |
| 173 | Hirschsprung disease |
| 174 | Homocystinuria |
| 175 | HSMN type 1 |
| 176 | Hunter Syndrome |
| 177 | Huntington Disease |
| 178 | Hurler Syndrome (MPS 1) |
| 179 | HUS(Haemolytic uremic syndrome) |
| 180 | Hyper Mobility syndrome |
| 181 | HYPERARGININEMIA |
| 182 | Hypercitrullinemia |
| 183 | Hypermanganisemia with dystonia |
| 184 | Hypo IGM |
| 185 | Hypomyelinating leukodystrophy |
| 186 | Hypophosphatasia |
| 187 | Idiapathi c arthitis |
| 188 | Idiopathic pulmonary fibrosis |
| 189 | Idiopathic thrombocytopenic purpura( sudden fall of platlets in blood) |
| 190 | IEM |
| 191 | IgG4 RELATED DISEASES |
| 192 | Infantile hypophosphatasia |
| 193 | Infantile neuroaxonal dystrophy 1; neurodegeneration with brain iron accumulation 2B |
| 194 | Infantile Pompe’s diease |
| 195 | Infantile Spasm |
| 196 | Interstitial cystitis |
| 197 | Interstitial Lung Disease |
| 198 | Iron deficiency Anemia/ EHPVO / Ascites with umblical hernia / Partial SVT / Splenomegaly. |
| 199 | Isovaleric acidemia |
| 200 | ITP Blood disorder |
| 201 | IVC leiomyosarcoma |
| 202 | JIA (Juvenile idiopathic arthritis) |
| 203 | Johanson Blizzard Syndrome |
| 204 | Joubert Syndrome |
| 205 | Kawasaki disease |
| 206 | KBG Syndrome |
| 207 | KCNT1 epilepsy |
| 208 | KID Syndrome (Keratitis Ichthyosis Deafness syndrome) |
| 209 | Kimura Disease |
| 210 | KMT2B CHILDHOOD DYSTONIA |
| 211 | Krabbe disease |
| 212 | Kyphoscoliosis and NF1 |
| 213 | Lafora body disease |
| 214 | LAMA2 Muscular dystrophy |
| 215 | Lambert Eaten Syndrome |
| 216 | Laron Syndrome |
| 217 | Larsens Syndrome |
| 218 | Laurence moon biedl syndrome |
| 219 | LCH CANCER (Langerhans cell histiocytosis) |
| 220 | LEBERS CONGENITAL AMAUROSIS – LCA |
| 221 | Leber’s Hereditary Optic Neuropathy (LHON) |
| 222 | Leigh Syndrome |
| 223 | Lennox Gastaut Syndrome |
| 224 | Leucocyte adhesion defect(LAD) |
| 225 | Leukodystrophy |
| 226 | Leukoencephalopathy with vanishing white matter |
| 227 | LGMD |
| 228 | LGMD 2B |
| 229 | LGMD type 2 |
| 230 | LGMD type 2A |
| 231 | LGMD-2D |
| 232 | Lipid Storage Disease |
| 233 | Lissencephaly Type 1 SBH |
| 234 | LSD |
| 235 | Lumbar vertebral Disc prolapse |
| 236 | Lupus Nephritis |
| 237 | Lymphoedema |
| 238 | Lysosomal acid lipase deficiency |
| 239 | Lysosomal disorder |
| 240 | Macular degeneration rod cone dystrophy |
| 241 | MACULAR DYSTROPHY |
| 242 | Malignant Peripharal Nerve Sheath Tumour |
| 243 | Maple syrup Syndrome |
| 244 | Marcus Gunn Syndrome |
| 245 | Masson syndrome |
| 246 | MAYER ROKITANSKY HAUSER SYNDROME |
| 247 | MAZABRAUD SYNDROME |
| 248 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus SYNDROME |
| 249 | MELAS |
| 250 | Menke’s kinki hair disease |
| 251 | Menkes Kinky hair disease |
| 252 | Metachromatic Leukodystrophy MLD |
| 253 | METHYL MALONIC ACIDEMIA |
| 254 | Mitochondrial genetic disorder MNGIE |
| 255 | MITOCHONDRIAL MYOPATHY |
| 256 | Mixed connective tissue disorder |
| 257 | MOCS1 |
| 258 | Moebius Syndrome |
| 259 | Mog antibody disease |
| 260 | MORC-2 Gene |
| 261 | Morquio A and Galactosidase enzyme assays |
| 262 | MORQUIO A DISEASE |
| 263 | Morquio A(MPS IV A) |
| 264 | Morquio syndrome |
| 265 | Moya Moya Disease |
| 266 | MPS – IV A ( Morquio – A Syndrome ) |
| 267 | MPS 1 (Hurler Syndrome) |
| 268 | MPS 3 |
| 269 | MPS 3A (SANFILLIPO SYNDROME) |
| 270 | MPS 4 |
| 271 | MPS 6 |
| 272 | MPS II ( Hunter) |
| 273 | MPS IIIB |
| 274 | MPS IV A |
| 275 | Multicystic dysplastic kidney |
| 276 | Multiple Sclerosis |
| 277 | Multiple Sulfatase Deficiency Disorder |
| 278 | Muscular atrophy type 3 |
| 279 | Muscular dystrophy |
| 280 | Myalgic Encephalomyelitis |
| 281 | Myasthenia Gravis |
| 282 | Myofibrillar Myopathy |
| 283 | Myotonia Congenita |
| 284 | Myotonic dystrophy |
| 285 | NAGS (N-Acetyl glutamate synthatase deficiency) |
| 286 | NCL (Neuronal ceroid lipofuscinosis) |
| 287 | Neimann Pick Type C |
| 288 | Nephropathic cystinosis |
| 289 | Neuro Fibromatosis Type I |
| 290 | Neuro myelitis optica |
| 291 | Neuroblastoma |
| 292 | neurodevelopmental disorder with dysmorphic features, spasticity and brain abnormalities |
| 293 | Neurogenic Atrophy |
| 294 | NF II |
| 295 | Nodular Prurigo |
| 296 | Nonaka Myopathy |
| 297 | Non-neurogenic neuropathic bladder |
| 298 | NOONAN SYNDROME |
| 299 | Omenn Syndrome / Severe Combined Immunodeficiency. |
| 300 | Osteogenesis Imperfecta |
| 301 | Osteogenesis imperfecta type 1 |
| 302 | Osteopetrosis |
| 303 | Ovarian Teratoma (Cancer) with Autoimmune encephalitis (Anti NMDA receptor antibodies positive) |
| 304 | OVARIOLEUKODYSTROPHY |
| 305 | PAH |
| 306 | Pank 2 mutation |
| 307 | Parkinson’s Arthrithis |
| 308 | Pemphigus Vulgaris |
| 309 | periventricular leukomalacia |
| 310 | Periventricular Nodular Heterotopia PVNH |
| 311 | Phelen McDermid syndrome |
| 312 | Phenylketonuria – PKU |
| 313 | PHEX Hypophosphatemia |
| 314 | PID |
| 315 | Pierre Robin Syndrome |
| 316 | Pigmented Villonodular Synovitis (PVNS) |
| 317 | PITT HOPKINS SYNDROME |
| 318 | POLR2A (+) (ENST00000674977.2) – PATHOGENIC VARIANT CAUSATIVE OF THE REPORTED PHENOTYPE WAS DETECTED |
| 319 | Polycythemia vera |
| 320 | Polymycrogyria |
| 321 | Pontine Haemorrhage with Locked in Syndrome |
| 322 | Ponto cerebrallar hypoplasia |
| 323 | Porphyrias |
| 324 | Post polio residual paralysis |
| 325 | Prader Willi syndrome |
| 326 | Primary Hyperoxaluria Type1 |
| 327 | Primary Immuno defeciency |
| 328 | Progeria Syndrome |
| 329 | Progressive dystonia |
| 330 | PROGRESSIVE MYOCLONIC EPILEPSY, LAFORA BODY DISEASE |
| 331 | Propionic Acidemia |
| 332 | PROTEIN C DEFICIENCY |
| 333 | Protein S Deficiency |
| 334 | Pseudohypoaldosteronism type 2E |
| 335 | Pulmonary arterial Hypertension |
| 336 | PVNH ( Periventricular Nodular Heterotopia) |
| 337 | Rare Autoinflammatory Syndrome NLRP12 Gene Mutation |
| 338 | Rare Blood Cancer |
| 339 | Rare Cancer |
| 340 | Rare type of Gangrene |
| 341 | Red syndrome |
| 342 | RELAPSED METASTATIC SYNOVIAL SARCOMA |
| 343 | Renal Agenesis |
| 344 | Renal glycosuria |
| 345 | RETINITIS PIGMENTOSA – ROD CONE DYSTROPHY |
| 346 | Retinitispigmentosa |
| & Partial Androgen | |
| insensitivity Syndrome. | |
| 347 | Retinoblastoma |
| 348 | Rett syndrome |
| 349 | Rheumatoid Arthritis (RA) |
| 350 | Rhotacism – Inability to pronounce |
| 351 | Riboflavin transporter deficiency disorder |
| 352 | ROSAI DORFMAN DISEASE |
| 353 | RTA nephrology Renal tubular acidosis |
| 354 | Russel silver syndrome |
| 355 | San fillipo syndrome |
| 356 | Sanfilippo B |
| 357 | sanfillipo mps3 |
| 358 | SCAD DISEASE (Spontaneous coronary artery dissection) |
| 359 | schizo affective disorder |
| 360 | Schizotypal personality disorder |
| 361 | Scimitar Syndrome |
| 362 | Scleroderma |
| 363 | SCN1A Gene Mutation with Epilepsy |
| 364 | Semilobar holoprosencephaly |
| 365 | SERAC1 MEGDEL Syndrome |
| 366 | Severe childhood autosomal recessive muscular dystrophy |
| 367 | Shox gene |
| 368 | Sialidosis |
| 369 | Sickle cell homozymutation |
| 370 | Sjdogren Syndrome |
| 371 | Skeletal dysplasia |
| 372 | SLE Grade 5 |
| 373 | SLE, MCTD, SJOGRENS’SYN, ARTHRALGIA, FIBROADENOSIS both BREASTS- BIRADS II, ANX-DEP/ PANIC, CHRONIC Respiratory Allergy. |
| 374 | SMA |
| 375 | SMA 1 |
| 376 | SMA 2 |
| 377 | SMA 3 |
| 378 | SMA 4 |
| 379 | Snijders Blok type of x-linked syndromic intellectual developmental disorder |
| 380 | Sojia |
| 381 | Somatoform disorder |
| 382 | Spinal Cerebral Ataxia Type 2 |
| 383 | Spino Cellebelar Ataxia |
| 384 | SPINO CEREBELLAR ATAXIA TYPE 3/ MJD |
| 385 | Spino Cerebellar Ataxia type 42 |
| 386 | Spino Cerebellar Ataxia type 6 |
| 387 | Spinocerebllar Ataxia type 12(SCA 12) |
| 388 | spinocerebllar Ataxia type2 |
| 389 | spondylometaphyseal dysplasia |
| 390 | SSADH DEFICIENCY SYNDROME |
| 391 | Stargardt disease |
| 392 | Steven Jonson syndrome |
| 393 | Sticklers Syndrome |
| 394 | Stiffness Syndrome |
| 395 | sturge weber syndrome |
| 396 | Subacute sclerosing pan encephalitis (SSPE) |
| 397 | syndromic Autism |
| 398 | systematic onset JIA |
| 399 | Systemic Lupus Erythematosus, SLE |
| 400 | Systemic sclerosis (ILD NSIP) |
| 401 | T – B – NK+ Severe Combined Immunodeficiency (RAG 2 DEFECT). |
| 402 | Takayasu Arteritis |
| 403 | TARLOV CYST OR PERINEURAL CYST |
| 404 | Tay Sachs Genetic Disease |
| 405 | Tetrahydrobioptein BH4 |
| 406 | TK2 Deficiency (Thymidine kinase 2) |
| 407 | TMAU |
| 408 | Tpp1 ncl2 |
| 409 | Transverse Myelitis |
| 410 | Treacher Collins Syndrome |
| 411 | Trigeminal neuralgia |
| 412 | TRISOMY 12P |
| 413 | TUBEROUS SCLEROSIS |
| 414 | TYLOSIS |
| 415 | Type 1 Diabetes Mellitus |
| 416 | Type -1-Glanzaman Thrombasthenia |
| 417 | Tyrosinemia |
| 418 | Tyrosinemia Type 1 |
| 419 | Ullrich Muscular Dystrophy |
| 420 | Urea Cycle Disorder |
| 421 | Ushers Syndrome type 1D |
| 422 | VHL (Von Hippel Lindau syndrome) |
| 423 | Vit B12 responsive methyl malonic acidemia |
| 424 | Von willebrand disease |
| 425 | Warburg micro syndrome |
| 426 | West syndrome |
| 427 | William Syndrome |
| 428 | Wilson desease |
| 429 | Wiscott aldrich syndrome |
| 430 | Wolman disease |
| 431 | X linked Alport Syndrome |
| 432 | X Linked Hypophosphatemic Rickets |
| 433 | YL A -Agammaglobalinenia |
| 434 | von hippel–lindau (vhl) syndrome |
| 435 | MEGDEL syndrome |
| 436 | Phelan-McDermid Syndrome |
| 437 | Alpha-mannosidosis |
| 438 | Turner Syndrome |
| 439 | Brown-Vialetto-Van Laere syndrome |
| 440 | Omenn syndrome |
| 441 | Glycogen storage disease type IV |
| 442 | Pituitary stalk interruption syndrome |
| 443 | Aspartylglucosaminuria (AGU) |
