| Sl No | List of Rare Diseases Registered with ORDI | |
| 1 | A giant cell tumor (GCT) | |
| 2 | A giant congenital melanocytic nevus (GCMN) | |
| 3 | A haemangioma | |
| 4 | A malignant peripheral nerve sheath tumor (MPNST) | |
| 5 | A pontine hemorrhage can cause locked-in syndrome | |
| 6 | Abernethy syndrome | |
| 7 | Achondroplasia | |
| 8 | Acute Inflammatory Demyelinating Polyradiculopathy (AIDP) | |
| 9 | Acute intermittent porphyria (AIP) | |
| 10 | Acute transverse myelitis (ATM) | |
| 11 | Addison’s disease | |
| 12 | Adrenoleukodystrophy (ALD) | |
| 13 | Adult hypophosphatasia (HPP) | |
| 14 | Aicardi-Goutières syndrome (AGS) | |
| 15 | Alagille syndrome (ALGS) | |
| 16 | Alkaptonuria | |
| 17 | Alpha-mannosidosis | |
| 18 | Alternating Hemiplegia of Childhood (AHC) | |
| 19 | Amino acid metabolism disorders | |
| 20 | Amniotic band syndrome (ABS) | |
| 21 | Amyloidosis | |
| 22 | An arteriovenous malformation (AVM) | |
| 23 | Anal Stricture | |
| 24 | Androgen Insensitivity Syndrome (AIS) | |
| 25 | Angelman syndrome | |
| 26 | Ankylosing spondylitis (AS) | |
| 27 | Anorchia | |
| 28 | Anterior horn cell disease | |
| 29 | Apert Syndrome | |
| 30 | Aplastic anemia | |
| 31 | Arboleda-Tham syndrome (ARTHS) | |
| 32 | Aromatic L-amino acid decarboxylase (AADC) | |
| 33 | Arthrogryposis multiplex congenita (AMC) | |
| 34 | Asah1 gene related anterior Horn disease | |
| 35 | Aspartylglucosaminuria (AGU) | |
| 36 | ATTR (transthyretin) cardiac amyloidosis | |
| 388 | Autoimmune Autonomic Ganglionopathy (AAG) | |
| 37 | Autoimmune encephalitis | |
| 38 | Autoimmune hemolytic anemia (AIHA) | |
| 39 | Bannayan-Riley-Ruvalcaba syndrome (BRRS) | |
| 40 | Bardet-Biedl syndrome (BBS) | |
| 41 | Batten Syndrome | |
| 42 | Becker muscular dystrophy (BMD) | |
| 43 | Behcet syndrome | |
| 44 | Benign recurrent intrahepatic cholestasis (BRIC) | |
| 45 | Bernard-Soulier syndrome (BSS) | |
| 46 | Beta thalassemia | |
| 47 | Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD) | |
| 48 | Bilateral cystoid macular edema (CMO) | |
| 49 | Biliary atresia | |
| 50 | Biotinidase deficiency | |
| 51 | Blue rubber bleb nevus syndrome (BRBNS) | |
| 52 | Brown-Vialetto-Van Laere syndrome (BVVL) | |
| 53 | Budd-Chiari syndrome | |
| 54 | Bulbar onset motor neurone disease | |
| 55 | Calpainopathy | |
| 56 | Canavan disease | |
| 57 | Cauda equina syndrome (CES) | |
| 58 | CDKL5 Deficiency Disorder (CDD) | |
| 59 | Central hypotonia | |
| 60 | Cerebellar Ataxia | |
| 389 | Cerebrotendinous Xanthomatosis (CTX) | |
| 61 | CHAPLE syndrome | |
| 62 | Charcot marie tooth 2 | |
| 63 | Charcot marie tooth 2F | |
| 64 | Charcot marie tooth 4C | |
| 65 | Charcot marie tooth 4J | |
| 66 | Chronic bullous disease of childhood (CBDC) | |
| 67 | Chronic Granulomatous Disease (CGD) | |
| 68 | CIDP, or Chronic Inflammatory Demyelinating Polyradiculoneuropathy | |
| 69 | Citrullinemia | |
| 70 | Classical homocystinuria (HCU) | |
| 71 | CLN2 disorder | |
| 388 | CLN3 | |
| 72 | CLN6 | |
| 73 | CLN8 disorder | |
| 74 | Coats disease | |
| 75 | Cobalamin C (cblC) | |
| 76 | Coffin-Siris syndrome (CSS) | |
| 77 | Cohen syndrome | |
| 78 | Common variable immunodeficiency (CVID) | |
| 79 | Congenital central hypoventilation syndrome (CCHS) | |
| 80 | Congenital fiber-type disproportion myopathy (CFTD) | |
| 81 | Congenital glaucoma | |
| 82 | Congenital hyperinsulinism (CHI) | |
| 83 | Congenital hypomyelinating neuropathy-3 (CHN3) | |
| 84 | Congenital Methemoglobinemia Type 2 & HexoKinase 1 deficiency [ NEDVIBA ] | |
| 85 | Congenital Muscular Dystrophy (CMD) | |
| 86 | Congenital myasthenic syndrome 7 (CMS7A) | |
| 87 | Congenital myopathies | |
| 88 | Congenital pseudarthrosis of the tibia (CPT) | |
| 89 | Congenital split hand/foot anomaly | |
| 90 | Creutzfeldt-Jakob disease (CJD) | |
| 91 | Crigler-Najjar syndrome (CNS) | |
| 92 | Cushing syndrome | |
| 93 | Cystic fibrosis (CF) | |
| 94 | Dense deposit disease (DDD) | |
| 95 | Dermatomyositis | |
| 96 | Dopa-Responsive Dystonia (DRD) | |
| 97 | Dorsal/spinal cord nerve diseases | |
| 98 | DorsoLumbar MMC | |
| 99 | Down Syndrome | |
| 100 | Dravet syndrome | |
| 101 | Duchenne Muscular Dystrophy | |
| 102 | Dysferlinopathy | |
| 103 | Dystrophic Epidermolysis Bullosa (DEB) | |
| 104 | Ectodermal dysplasia (ED) | |
| 105 | Ehlers-Danlos Syndrome (EDS) | |
| 106 | Eisenmenger syndrome | |
| 107 | Enthesitis-related arthritis (ERA) | |
| 108 | Eosinophilic enteritis | |
| 109 | Epidermolysis bullosa (EB) | |
| 110 | Erdheim-Chester disease (ECD) | |
| 111 | Fabry disease | |
| 112 | Facioscapulohumeral Muscular Dystrophy (FSHD) | |
| 113 | Factor XI deficiency, also known as Hemophilia C | |
| 114 | Factor XIII (FXIII) deficiency | |
| 115 | Familial adenomatous polyposis (FAP) | |
| 116 | Familial Amyloid Neuropathy (FAP) TTR type | |
| 117 | Familial motor neurone disease (2110 MAcf1 g nutation) | |
| 118 | Fanconi anemia | |
| 119 | Fanconi-Bickel syndrome | |
| 120 | Febrile Infection-Related Epilepsy Syndrome (FIRES) | |
| 121 | Fibrodysplasia ossificans progressiva (FOP) | |
| 122 | Fibrous dysplasia | |
| 123 | Fish odor syndrome | |
| 124 | Floppy infant syndrome | |
| 125 | Focal Segmental Glomerulosclerosis (FSGS) | |
| 126 | Friedreich’s ataxia (FA) | |
| 387 | Gabra1 mutation | |
| 127 | Gangliosidosis Type 1 | |
| 128 | Gaucher 1 | |
| 129 | Gaucher 2 | |
| 130 | Gaucher 3 | |
| 131 | Generalised chorea in Huntington’s disease (HD) | |
| 132 | Generalized Epilepsy with Febrile Seizures Plus (GEFS+) | |
| 133 | Generalized Pustular Psoriasis (GPP) | |
| 134 | Gilbert’s syndrome | |
| 135 | Gitelman syndrome | |
| 136 | Glandular cheilitis | |
| 137 | Glanzmann thrombasthenia | |
| 138 | Glucose phosphate isomerase (GPI) | |
| 139 | Glutaric acidemia type 2 (GA2) | |
| 140 | Glycogen storage disease II | |
| 141 | Glycogen Storage Disease Type 1 (GSD ) | |
| 142 | Glycogen Storage Disease Type 3 (GSD ) | |
| 143 | Glycogen storage disease type IV (GSD IV), | |
| 144 | GM1 gangliosidosis | |
| 145 | GM2 Gangliosidosis | |
| 146 | Goldenhar syndrome | |
| 147 | Goodpasture syndrome | |
| 148 | Granulomatosis with polyangiitis (GPA) | |
| 149 | Graves’ disease and Thyroid Eye Disease(TED) | |
| 150 | Guillain-Barré Syndrome (GBS) | |
| 151 | H Syndrome | |
| 152 | Hemolytic uremic syndrome (HUS) | |
| 153 | Hemophilia B | |
| 154 | Hereditary Fructose Intolerance (HFI) | |
| 155 | Hereditary leukoencephalopathy with axonal spheroids | |
| 156 | Hereditary pancreatitis | |
| 157 | Hereditary spastic paraplegia (HSP) SPG84 | |
| 158 | Hereditary Spastic Paraplegia 56 (SPG56) | |
| 159 | Hereditary spherocytosis (HS) | |
| 389 | Hidradenitis Suppurativa | |
| 160 | Hirschsprung disease | |
| 161 | Homocystinuria | |
| 162 | HSMN type 1 | |
| 163 | Hunter Syndrome | |
| 164 | Huntington Disease | |
| 165 | Hurler syndrome | |
| 166 | Hyaline fibromatosis syndrome (HFS) | |
| 167 | Hyperargininemia | |
| 168 | Hypercitrullinemia | |
| 169 | Hypermanganesemia with dystonia | |
| 170 | hypo-immunoglobulin M | |
| 171 | Hypomyelinating leukodystrophy (HLD) | |
| 172 | Hypophosphatasia (HPP) | |
| 173 | Idiopathic arthritis | |
| 174 | Idiopathic pulmonary fibrosis (IPF) | |
| 175 | Idiopathic thrombocytopenic purpura (ITP) | |
| 176 | IgG4-related disease (IgG4-RD) | |
| 387 | Immune thrombocytopenia (ITP) | |
| 177 | Inborn Errors of Metabolism (IEM) | |
| 178 | Infantile hypophosphatasia | |
| 179 | Infantile neuroaxonal dystrophy (INAD) | |
| 180 | Infantile Pompe disease | |
| 181 | Infantile spasms | |
| 182 | Interstitial lung disease (ILD) | |
| 183 | Iron deficiency Anemia/ EHPVO / Ascites with umblical hernia / Partial SVT / Splenomegaly. | |
| 184 | Isovaleric acidemia | |
| 185 | ITP (Immune Thrombocytopenia) | |
| 186 | IVC leiomyosarcoma | |
| 187 | Johanson-Blizzard syndrome (JBS) | |
| 188 | Joubert syndrome | |
| 189 | Kawasaki disease | |
| 190 | KBG syndrome | |
| 191 | KCNT1 epilepsy | |
| 192 | KID (Keratitis, Ichthyosis, Deafness) syndrome | |
| 193 | Kimura’s disease | |
| 387 | King-Denborough Syndrome (KDS) | |
| 194 | KMT2B-related dystonia | |
| 195 | Krabbe disease | |
| 196 | Kyphoscoliosis and NF1 | |
| 197 | Lafora Body Disease | |
| 198 | LAMA2 muscular dystrophy | |
| 199 | Lambert-Eaton myasthenic syndrome (LEMS) | |
| 202 | Lamellar Ichthyosis (LI) | |
| 200 | Laron syndrome | |
| 201 | Larsen syndrome | |
| 203 | Laurence-Moon-Biedl syndrome (LMBBS) | |
| 204 | LCH, or Langerhans cell histiocytosis | |
| 205 | Leber congenital amaurosis (LCA) | |
| 206 | Leber’s hereditary optic neuropathy (LHON) | |
| 207 | Leigh syndrome | |
| 208 | Lennox-Gastaut syndrome (LGS) | |
| 209 | Leptin receptor deficiency | |
| 210 | Leukocyte adhesion deficiency (LAD) | |
| 211 | Leukodystrophy | |
| 212 | Leukoencephalopathy with vanishing white matter (VWM) | |
| 213 | Limb-girdle muscular dystrophy (LGMD) | |
| 214 | Limb-girdle muscular dystrophy (LGMD) 2 | |
| 215 | Limb-girdle muscular dystrophy (LGMD) 2B | |
| 216 | Limb-girdle muscular dystrophy (LGMD)2D | |
| 217 | Lipid storage diseases | |
| 218 | Lissencephaly Type 1 (LIS1) | |
| 219 | Lupus nephritis | |
| 220 | Lymphedema | |
| 221 | Lysosomal acid lipase (LAL) | |
| 222 | Macular dystrophies | |
| 223 | Maple Syrup Urine Syndrome, or Maple Syrup Urine Disease (MSUD) | |
| 224 | Marcus Gunn syndrome | |
| 225 | Masson syndrome | |
| 226 | Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome | |
| 227 | Mazabraud syndrome | |
| 228 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus (MPPH) syndrome | |
| 229 | MEGDEL syndrome | |
| 230 | Meier-Gorlin syndrome | |
| 231 | Membranous lupus nephritis (MLN) | |
| 232 | Menke’s kinky hair disease | |
| 233 | Metachromatic leukodystrophy (MLD) | |
| 234 | Methylglutaconic aciduria (3-MGA-uria) | |
| 235 | Methylmalonic acidemia (MMA) | |
| 236 | Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) | |
| 237 | Mitochondrial myopathy | |
| 238 | Mixed connective tissue disease (MCTD) | |
| 239 | MNGIE, or Mitochondrial Neurogastrointestinal Encephalomyopathy | |
| 240 | MOCS1 | |
| 241 | Moebius syndrome | |
| 242 | MOG antibody disease (MOGAD) | |
| 243 | Morphine syndrome | |
| 244 | Morquio A (MPS IVA) | |
| 245 | Morquio syndrome | |
| 246 | Moyamoya disease | |
| 247 | MPS II, or Hunter syndrome | |
| 248 | MPS IIIB, or Mucopolysaccharidosis type III B | |
| 249 | MPS IV A | |
| 250 | Mucopolysaccharidosis Type I (MPS I) | |
| 251 | Mucopolysaccharidosis type IV | |
| 252 | Mucopolysaccharidosis type VI | |
| 253 | Multiple sclerosis (MS) | |
| 254 | Multiple sulfatase deficiency (MSD) | |
| 255 | Muscular dystrophy | |
| 256 | Mutation in the NLRP12 gene can cause a rare autoinflammatory syndrome | |
| 257 | Myasthenia gravis | |
| 258 | Myofibrillar myopathy (MFM) | |
| 259 | Myotonia congenita | |
| 260 | Myotonic dystrophy | |
| 261 | NAGS (N-Acetyl glutamate synthase) deficiency | |
| 262 | Nephropathic cystinosis | |
| 263 | Neuroblastoma | |
| 264 | neurodevelopmental disorder with dysmorphic features, spasticity and brain abnormalities | |
| 265 | Neurofibromatosis type 1 (NF1) | |
| 266 | Neurofibromatosis type 2 (NF2) | |
| 267 | Neurogenic atrophy | |
| 268 | Neuromyelitis optica (NMO) | |
| 269 | Neuronal ceroid lipofuscinoses (NCL) | |
| 270 | Niemann-Pick Type C (NPC) | |
| 271 | Nonaka myopathy | |
| 272 | Non-neurogenic neurogenic bladder or Hinman syndrome | |
| 273 | Noonan syndrome | |
| 274 | Omenn syndrome | |
| 275 | Osteogenesis imperfecta (OI) | |
| 276 | Osteogenesis imperfecta (OI) Type I | |
| 277 | Osteopetrosis | |
| 278 | Ovarian Teratoma (Cancer) with Autoimmune encephalitis (Anti NMDA receptor antibodies positive) | |
| 279 | Ovarioleukodystrophy Syndrome | |
| 280 | Paroxysmal nocturnal hemoglobinuria (PNH) | |
| 281 | Partial Androgen | |
| 282 | Pelizaeus-Merzbacher disease (PMD) | |
| 283 | Pelizaeus–Merzbacher disease (PMD) | |
| 284 | Periventricular nodular heterotopia (PVNH) | |
| 285 | Persistent hyperplastic primary vitreous (PHPV) | |
| 286 | Phelan-McDermid Syndrome (PMS) | |
| 287 | Phenylketonuria (PKU) | |
| 288 | PHEX is a gene that causes X-linked hypophosphatemia (XLH) | |
| 289 | Pierre Robin Syndrome | |
| 290 | Pigmented villonodular synovitis (PVNS) | |
| 291 | Pitt-Hopkins syndrome | |
| 292 | Pituitary Stalk Interruption Syndrome (PSIS) | |
| 293 | Polycythemia vera (PV) | |
| 294 | Polymicrogyria | |
| 295 | Polymyositis (PM) | |
| 296 | Pontocerebellar hypoplasia (PCH) | |
| 297 | Porphyrias | |
| 298 | Prader-Willi syndrome (PWS) | |
| 299 | Primary ciliary dyskinesia (PCD) | |
| 300 | Primary hyperoxaluria type 1 (PH1) | |
| 301 | Primary immunodeficiency (PI) | |
| 302 | Progeria | |
| 303 | Progressive dystonia | |
| 304 | Propionic acidemia | |
| 305 | Protein C deficiency | |
| 306 | Protein S deficiency | |
| 307 | prurigo nodularis (PN) | |
| 308 | Pseudohypoaldosteronism type 2E (PHA2E) | |
| 309 | Pulmonary Arterial Hypertension (PAH) | |
| 310 | Relapsed metastatic synovial sarcoma | |
| 311 | Renal agenesis | |
| 312 | Renal glycosuria | |
| 313 | Renal tubular acidosis (RTA) | |
| 314 | Retinitis pigmentosa (RP) | |
| 315 | Retinoblastoma | |
| 316 | Rett syndrome | |
| 317 | Riboflavin transporter deficiency (RTD) | |
| 318 | Rosai-Dorfman disease (RDD) | |
| 319 | Russell-Silver Syndrome (RSS) | |
| 320 | Sanfilippo B (MPS IIIB) | |
| 321 | Sanfilippo syndrome | |
| 322 | Sanfilippo syndrome (MPS3) | |
| 323 | Schizoaffective disorder | |
| 324 | Schizotypal personality disorder (STPD) | |
| 325 | Scimitar syndrome | |
| 326 | Scleroderma | |
| 327 | Semilobar holoprosencephaly | |
| 328 | Severe childhood autosomal recessive muscular dystrophy (SCARMD) | |
| 329 | Severe hemophilia | |
| 330 | SHOX gene | |
| 331 | Sialidosis | |
| 332 | Sickle cell homozymutation | |
| 333 | Skeletal dysplasia | |
| 334 | Snijders Blok-Campeau syndrome | |
| 335 | SoJIA | |
| 336 | Spinal muscular atrophy Type 1 | |
| 337 | Spinal muscular atrophy Type 2 | |
| 338 | Spinal muscular atrophy Type 3 | |
| 339 | Spinal muscular atrophy Type 4 | |
| 340 | Spinocerebellar ataxia (SCA) | |
| 341 | Spinocerebellar ataxia type 12 (SCA12) | |
| 342 | Spinocerebellar ataxia type 2 (SCA2) | |
| 343 | Spinocerebellar ataxia type 3 (SCA3) | |
| 344 | Spinocerebellar Ataxia type 42 (SCA42) | |
| 345 | Spinocerebellar Ataxia type 6 (SCA6) | |
| 346 | Spondylometaphyseal Dysplasia (SMD) | |
| 347 | Spontaneous Coronary Artery Dissection (SCAD) | |
| 348 | SSADH deficiency syndrome | |
| 349 | Stargardt’s disease | |
| 350 | Stevens-Johnson syndrome (SJS) | |
| 351 | Stickler syndrome | |
| 352 | Stiff Person Syndrome | |
| 353 | Sturge-Weber syndrome (SWS) | |
| 354 | Subacute sclerosing panencephalitis (SSPE) | |
| 355 | Syndromic autism | |
| 356 | Systemic onset juvenile idiopathic arthritis (SJIA) | |
| 357 | Systemic sclerosis (SSc) | 6 |
| 358 | Takayasu’s arteritis | |
| 359 | Tay-Sachs disease | |
| 360 | T–B–NK+ severe combined immunodeficiency (SCID) | |
| 361 | Tetrahydrobiopterin (BH4) | |
| 362 | The MORC2 | |
| 363 | TK2 deficiency | |
| 364 | TMAU | |
| 365 | Transverse myelitis | |
| 366 | Treacher Collins syndrome (TCS) | |
| 367 | Trigeminal neuralgia | |
| 368 | Trisomy 12p | |
| 369 | Tuberous Sclerosis Complex (TSC) | |
| 370 | Turner syndrome | |
| 371 | Tylosis | |
| 372 | Tyrosinemia | |
| 373 | Tyrosinemia Type 1 | |
| 374 | Ullrich congenital muscular dystrophy (UCMD) | |
| 375 | Urea cycle disorders (UCDs) | |
| 376 | Usher Syndrome type 1D (USH1D) | |
| 377 | Vitamin B12-responsive methylmalonic acidemia (MMA) | |
| 378 | Von Hippel-Lindau (VHL) syndrome | |
| 379 | Warburg micro syndrome | |
| 380 | West syndrome | |
| 381 | Williams syndrome | |
| 382 | Wilson disease | |
| 383 | Wiskott-Aldrich syndrome (WAS) | |
| 384 | Wolman disease | |
| 385 | X-linked Alport syndrome | |
| 386 | X-linked hypophosphatemic rickets (XLH) | |
| Other Rare Diseases In India | ||
| Sl No | Diseases Name | Reference |
| 1 | Acanthocytosis Chorea | |
| 2 | Achalasia Cardia | |
| 3 | Acromesomelic Dysplasia | |
| 4 | Adip syndrome | |
| 5 | Adisons Disease | |
| 6 | Adrenoleukodystrophy(ALD) | |
| 7 | Amyloid neuropathy | |
| 8 | Arthrogryposis, Distal-5D (DA5D) | |
| 9 | Astroblastoma | |
| 10 | ATAXIA TELANGIECTASIA | |
| 11 | Autosomal Recessive Polycystic Kidney Disease | |
| 12 | Batten disease, specifically CLN7 | |
| 13 | Batten Diseases | |
| 14 | Bilateral Anorchia | |
| 15 | Brook Speigler Syndrome (Cylindroma) | |
| 16 | Camptodactyly-Arthropathy-Coxa Vara-Pericarditis (CACP) | |
| 17 | Cartilage-hair hypoplasia (CHH) | |
| 18 | Cerebrotendinous Xanthamatosis | |
| 19 | CHAPLE syndrome | |
| 20 | Chronic Infantile Neurologic Cutaneous Articular (CINCA) Syndrome | |
| 21 | CHST3 Related Disorder (SED- Omani) | |
| 22 | Cockayne Syndrome | |
| 23 | Cold Urticaria | |
| 24 | Complex Regional Pain Syndrome(CRPS) | |
| 25 | Cone-rod dystrophy (CRD) | |
| 26 | Congenital contractural arachnodactyly (CCA) | |
| 27 | Congenital Nephrotic Syndrome | |
| 28 | Cryopyrin-Associated Periodic Syndrome (CAPS) | |
| 29 | Cutis Laxa | |
| 30 | Dentinogenesis Imperfecta Type 2 | |
| 31 | Diamond-Blackfan anemia (DBA) | |
| 32 | Diastrophic Dysplasia | |
| 33 | DIDMOAD Syndrome | NU Hospital Bengaluru, Karnataka (Network Source) Date : 29th Jan 2026 |
| 34 | Encephalopathy with autoimmune thyroiditis | |
| 35 | Episodic Ataxia | |
| 36 | Familial Juvenile Hyperuricemic Nephropathy (FJHN) | |
| 37 | Familial Mediterranean Fever (Common Mutation) | |
| 38 | Farber disease | |
| 39 | Fetal Valproate Syndrome | |
| 40 | Fructose 1,6 Bisphosphatase Deficiency | |
| 41 | GAMT deficiency | |
| 42 | Gluten Ataxia | |
| 43 | Hajdu-Cheney Syndrome (HCS) | |
| 44 | Hallermann-Streiff syndrome (HSS) | |
| 45 | Hemophagocytic lymphohistiocytosis (HLH) | |
| 46 | Hereditary sensory motor neuropathy (HSMN) | |
| 47 | Hirayama syndrome | |
| 48 | Hyperammonia Carbonic Anhydrase Deficency | |
| 49 | Immunoglobulin G4 | |
| 50 | Infantile Systemic Hyalinosis (ISH) and Juvenile Hyaline Fibromatosis (JHF) | |
| 51 | Intestinal Cancer | |
| 52 | Jansen’s metaphyseal chondrodysplasia (JMC) | |
| 53 | Kabuki Syndrome | |
| 54 | Kearns-Sayre syndrome (KSS) | |
| 55 | Kleefstra syndrome | |
| 56 | KMT2B childhood dystonia (DYT-KMT2B) | |
| 57 | Lamellar ichthyosis (LI) | |
| 58 | Lion Face Syndrome | |
| 59 | Marie’s ataxia/Olivopontocerebellar atrophy (OPCA) | |
| 60 | Melnick-Needles Syndrome (MNS) | |
| 61 | Menière’s disease | |
| 62 | Menkes kinky hair disease | |
| 63 | Mucolipidosis II (ML II), or I-cell disease | |
| 64 | Multicentric Reticulohistiocytosis (MRH) | |
| 65 | Multiple Endocrine Neoplasia (MEN) | |
| 66 | Nemaline myopathy type 6 (NEM6) | |
| 67 | Netherton syndrome | |
| 68 | Occipital Horn Syndrome (OHS) | |
| 69 | Oculodentodigital (ODD) syndrome | |
| 70 | Otopalatodigital Syndrome type 1 (OPD1) | |
| 71 | Pachydermoperiostosis (PDP) | |
| 72 | Pantothenate kinase-associated neurodegeneration (PKAN) | |
| 73 | Paraneoplastic Cerebellar Degeneration (PCD) | |
| 74 | Partial androgen insensitivity syndrome (PAIS) | |
| 75 | Persistent Müllerian duct syndrome (PMDS) | |
| 76 | Pfeiffer syndrome | |
| 77 | Pierre Robin Sequence (PRS) | |
| 78 | Postinfectious Bronchiolitis Obliterans (PIBO) | |
| 79 | Primary dystonia type I | |
| 80 | Progeria, specifically Hutchinson-Gilford Progeria Syndrome (HGPS) | |
| 81 | Progressive bulbar palsy (PBP) | |
| 82 | Progressive Myoclonic Epilepsy with Ataxia (PMEA) | |
| 83 | Progressive Pseudorheumatoid Dysplasia (PPRD) | |
| 84 | Pseudo – TORCH Syndrome | Dr. Vykunta Raju IGICH, Bengaluru, Karnataka . Date : 17th Nov 2025 |
| 85 | Pseudohypoaldosteronism type 1 (PHA1) | |
| 86 | Pulmonary-renal syndrome | |
| 87 | Raine Syndrome | |
| 88 | Rhizomelic chondrodysplasia punctata (RCDP) | |
| 89 | Robinow Syndrome | |
| 90 | Shprintzen-Goldberg syndrome | |
| 91 | Sotos syndrome | |
| 92 | Spastic paraplegia 6 (SPG6) | |
| 93 | Spondylocostal dysostosis 1 (SCDO1) | |
| 94 | Spondylocostal dysostosis 2 (SCDO2) | |
| 95 | Spondylocostal dysostosis 2 (SCDO3) | |
| 96 | Spondylocostal dysostosis 2 (SCDO4) | |
| 97 | Spondylocostal dysostosis 2 (SCDO5) | |
| 98 | Spondylothoracic Dysostosis, or Jarcho-Levin Syndrome (JLS) | |
| 99 | Sudden Infant Death Syndrome (SIDS) | |
| 100 | Suspected Sarcoma | |
| 101 | TNF Receptor-Associated Periodic Fever Syndrome (TRAPS) (Common Mutation) | |
| 102 | Torg-Winchester syndrome | |
| 103 | Vasculitis | |
| 104 | Waardenburg syndrome | |
| 105 | Wolfram Syndrome | |
