Sl No. | List of Rare Diseases Register with ORDI |
1 | AADC: Aromatic l-amino acid decarboxylase deficiency |
2 | Abernathy Syndrome |
3 | Achondroplasia |
4 | Acute Inflammatory Demyelinating Polyradiculopathy (AIDP) |
5 | Acute transverse myelitis |
6 | Addisons disease |
7 | Adrenoleukodystrophy |
8 | Adult Hypophosphatasia |
9 | Aicardi Goutieres Syndrome |
10 | Alagille Syndrome |
11 | Alkaptonuria |
12 | Alpha thalassemia |
13 | ALS |
14 | Alternating Hemiplegia of Childhood (APT1A3 genetic variation) |
15 | Alzheimer’s disease |
16 | Amino Acid metabolism Disorder |
17 | Amniotic band syndrome |
18 | Amyloidosis |
19 | Amyotrophic lateral sclerosis |
20 | Anal Stricture |
21 | Angelman syndrome , Maternal imprinting |
22 | Ankylosing Spondylitis |
23 | Anorchia |
24 | Anterior Horn cell Disease |
25 | Apert Syndrome |
26 | Aplastic Anemia |
27 | Arboleda tham syndrome |
28 | AROMATIC L- AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY |
29 | Arteriovenous Malformation on Right cheek |
30 | Arthrogryposis Multiplex Congenita (AMC) |
31 | Asah1 gene related anterior Horn disease |
32 | ATTR CARDIAC AMYLOIDOSIS |
33 | Autoimmune encephalitis |
34 | Autoimmune hemolytic anemia |
35 | Azoospermia |
36 | Bannayan Riley Ruvalcaba Syndrome |
37 | BBS7 ( Bardet Biedl syndrome 7) |
38 | Becker Muscular Dystrophy (BMD) |
39 | Behcet syndrome |
40 | Bernard soulier syndrome |
41 | Beta thalassemia |
42 | Bethlem myopathy 1 ; Ullrich Congenital muscular dystrophy 1 |
43 | Bilateral cystoid macular edema. , atypical retinitis pigmentosa. |
44 | Billiary Atresia |
45 | Biotinidase deficiency |
46 | Blue rubber bleb nevus syndrome |
47 | BRIC-BENIGN RECURRENT INTRAHEPATIC CHOLESTATIS |
48 | Budd Chiari Syndrome |
49 | Bulbar onset Motor Neuron Disease |
50 | Calpainopathy |
51 | Canavan disease |
52 | Catarcts neurologic and neutropenia ( 3-methylglutaconic aciduria) |
53 | CBLC DEFICIENCY ( Cobalamine C deficiency ) |
54 | CCHS (Congenital central hypoventilation syndrome) |
55 | CDKL5 Deficiency Disorder |
56 | Central Hypotonia |
57 | Cerebellar Ataxia |
58 | Cerebellar Atrophy/ Ataxia like symptoms |
59 | CES (Cauda equina syndrome) |
60 | CGD (Chronic Granulomatous Disease) Type2 |
61 | Chaple syndrome (CD55 deficiency) |
62 | Charcot marie tooth 2 |
63 | Charcot marie tooth 2F |
64 | Charcot marie tooth 4C |
65 | Charcot marie tooth 4J |
66 | CHI ( Congenital Hyperinsulinism ) |
67 | Chronic bullous disease in children (CBDC) |
68 | Chronic granulomatous disease |
69 | CIDP (Chronic inflammatory demyelinating polyradiculoneuropathy) |
70 | Ciliary dyskinesia, primary 25 |
71 | Citrullinemia |
72 | 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 |