List of Rare Diseases

	A	B	C	D
1	Rare Diseases	Per 100,000	In India	@
2	3-hydroxyacyl-CoA dehydrogenase deficiency	1	12000
3	3-methylcrotonylglycinuria	2	24000
4	3-methylglutaconic aciduria	10	120000
5	Acalvaria	1	12000
6	Acanthamoeba keratitis	1	12000
7	Acatalasemia	3	36000
8	Aceruloplasminemia	0.05	600
9	Achalasia	10	120000
10	Achondroplasia	5	60000
11	Achromatopsia	3	36000
12	Acrocephalosyndactyly	5	60000
13	Acrodermatitis enteropathica	0.2	2400
14	Acromegaly	5	60000
15	Acute interstitial pneumonia	4	48000
16	Acute Respiratory Distress Syndrome	30	360000
17	Acyl-CoA dehydrogenase deficiency	16	192000
18	Addition's disease	1	12000
19	Adrenoleukodystrophy	5	60000
20	Agammaglobulinemia	0.5	6000
21	Agammaglobulinemia, alymphocytotic type	0.4	4800
22	Alagille syndrome	1	12000
23	Albinism	7	84000
24	Albright hereditary osteodystrophy, AHO	1	12000
25	Alkaptonuria	0.3	3600
26	Alopecia totalis	11	132000
27	Alpers syndrome	0.03	360
28	Alpha-1 antitrypsin deficiency	25	300000
29	Alport syndrome	2	24000
30	Alzheimer disease	5	60000
31	Amniotic bands	4	48000
32	Amyotrophic lateral sclerosis	5	60000
33	Androgen insensitivity syndrome	13	156000
34	Anencephaly	3	36000
35	Angelman syndrome	7	84000
36	Aniridia	2	24000
37	Anisakiasis	4	48000
38	Anophthalmia, Microphthalmia	14	168000
39	Anorchidia, bilateral	3	36000
40	Antisynthetase syndrome	2	24000
41	Aortic arch interruption	0.3	3600
42	Apert syndrome	1	12000
43	Arrhythmogenic right ventricular dysplasia	44	528000
44	Arthrogryposis	30	360000
45	Ataxia cerebellar	2	24000
46	Ataxia Friedreich	3	36000
47	Ataxia Harding	1	12000
48	Ataxia-telangiectasia	1	12000
49	Atresia of small intestine	20	240000
50	Atrioventricular canal defect	20	240000
51	Atypical coarctation of aorta	0.2	2400
52	Autism, ASD	45	540000
53	Bacterial toxic-shock syndrome	3	36000
54	Bardet-Biedl syndrome	1	12000
55	Bartter syndrome	0.1	1200
56	Beckwith-Wiedemann syndrome	7	84000
57	Behcet disease	3	36000
58	Best disease (Vitelliform macular dystrophy)	4	48000
59	Beta-thalassemia	0.5	6000
60	Biliary atresia	6	72000
61	Biliary cirrhosis primary	14	168000
62	Birt-Hogg-Dube syndrome	0.5	6000
63	Blackfan-Diamond disease	0.3	3600
64	Bloom syndrome (Bloom–Torre–Machacek)
65	Botulism	0.05	600
66	Boutonneuse fever	18	216000
67	Brachycephaly	5	60000
68	Branchiootorenal (BOR) syndrome	3	36000
69	Bronchopulmonary dysplasia	13	156000
70	Budd-Chiari syndrome	2	24000
71	Buerger’s disease	13	156000
72	Bullous pemphigoid	3	36000
73	Buschke-Ollendorff syndrome	5	60000
74	Campomelic dysplasia	0.4	4800
75	Cantrell pentalogy	1	12000
76	Carbamoylphosphate synthetase deficiency	1	12000
77	Cardiomyopathy, familial dilated	18	216000
78	Cat-eye syndrome	1	12000
79	Cat-scratch disease	7	84000
80	CDG syndrome	2	24000
81	Cerebral arteriovenous fistula	6	72000
82	Ceroid lipofuscinosis, neuronal	4	48000
83	Chandipura encephalitis
84	Charcot-Marie-Tooth disease	33	396000
85	CHARGE syndrome	0.1	1200
86	Choanal atresia	8	96000
87	Chondrodysplasia punctata	1	12000
88	Chordoma	0.05	600
89	Choroidal dystrophy, central areolar	3	36000
90	Choroideremia	2	24000
91	Christ-Siemens-Touraine syndrome	0.4	4800
92	Chromosome Y deletion	42	504000
93	Chronic hiccup	1	12000
94	Chronic inflammatory demyelinating polyneuropathy, CIDP	4	48000
95	Chronic pancreatitis Hereditary	0.1	1200
96	Churg-Strauss syndrome	1	12000
97	Ciliary dyskinesia primary	5	60000
98	Classic Ehlers-Danlos syndrome	4	48000
99	Clouston syndrome	1	12000
100	Coats disease	2	24000