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Please enter a likely rare disease name and press Search, then you will gain the related annotation of the likely rare disease.

About 15942 Results.

1	biotinidase deficiency
2	rett syndrome
3	gaucher disease
4	achondroplasia
5	choroideremia
6	polycythemia vera
7	pityriasis rubra pilaris
8	hypoplastic left heart syndrome
9	fanconi anemia
10	galactosemia
11	incontinentia pigmenti
12	wilson disease
13	primary ciliary dyskinesia
14	retinoblastoma
15	acute intermittent porphyria
16	cowden syndrome
17	leigh syndrome
18	multiple myeloma
19	li-fraumeni syndrome
20	huntington disease
21	alpha-1-antitrypsin deficiency
22	stevens-johnson syndrome
23	cystinuria
24	bardet-biedl syndrome
25	pseudoxanthoma elasticum
26	werner syndrome
27	maple syrup urine disease
28	lynch syndrome
29	epidermodysplasia verruciformis
30	leber hereditary optic neuropathy
31	williams syndrome
32	malt lymphoma
33	essential thrombocythemia
34	multiple endocrine neoplasia type 2
35	neuroblastoma
36	moyamoya disease
37	amyotrophic lateral sclerosis
38	cystic fibrosis
39	myasthenia gravis
40	progressive supranuclear palsy
41	polycystic ovary syndrome
42	granulomatosis with polyangiitis
43	brugada syndrome
44	rubinstein-taybi syndrome
45	peutz-jeghers syndrome
46	cone rod dystrophy
47	22q11.2 deletion syndrome
48	hirschsprung disease
49	mody
50	osteopetrosis
51	dyskeratosis congenita
52	denys-drash syndrome
53	weill-marchesani syndrome
54	charge syndrome
55	alkaptonuria
56	cyclic neutropenia
57	prolactinoma
58	nijmegen breakage syndrome
59	amyloidosis
60	hereditary hemorrhagic telangiectasia
61	abetalipoproteinemia
62	familial mediterranean fever
63	fragile x syndrome
64	cholangiocarcinoma
65	fabry disease
66	autoimmune thyroiditis
67	bullous pemphigoid
68	hyperkalemic periodic paralysis
69	kabuki syndrome
70	dubin-johnson syndrome
71	alpha-thalassemia
72	autosomal recessive polycystic kidney disease
73	fibromyalgia
74	wagr syndrome
75	kallmann syndrome
76	norrie disease
77	autoimmune lymphoproliferative syndrome
78	metachromatic leukodystrophy
79	allergic bronchopulmonary aspergillosis
80	mantle cell lymphoma
81	von willebrand disease
82	central diabetes insipidus
83	androgen insensitivity syndrome
84	phenylketonuria
85	follicular lymphoma
86	multiple endocrine neoplasia type 1
87	tuberous sclerosis
88	x-linked agammaglobulinemia
89	leprechaunism
90	ornithine transcarbamylase deficiency
91	pachydermoperiostosis
92	neurofibromatosis 2
93	pendred syndrome
94	ataxia-telangiectasia
95	idiopathic thrombocytopenic purpura
96	chronic inflammatory demyelinating polyneuropathy
97	idiopathic pulmonary fibrosis
98	renal cell carcinoma
99	sarcoidosis
100	biliary atresia

Rare Disease
Scleroderma ;
Biotinidase deficiency ;
Coats disease ;
Cyclic neutropenia ;
Cystinuria