eRAM
encyclopedia of
Rare Disease
Annotation for Precision Medicine
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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.
The First 1000 Rare Disease
About 15942 Results.
201
melas
202
growth hormone insensitivity syndrome
203
glycogen storage disease ia
204
hodgkin lymphoma
205
small cell carcinoma
206
multiple system atrophy
207
cherubism
208
histidinemia
209
sandhoff disease
210
proteus syndrome
211
campomelic dysplasia
212
zellweger syndrome
213
meningococcal meningitis
214
precocious puberty
215
multiple epiphyseal dysplasia
216
mycosis fungoides
217
citrullinemia
218
alexander disease
219
canavan disease
220
focal dermal hypoplasia
221
dihydropyrimidine dehydrogenase deficiency
222
gitelman syndrome
223
congenital diaphragmatic hernia
224
hereditary spherocytosis
225
carney complex
226
hypophosphatasia
227
gastroschisis
228
aniridia
229
lafora disease
230
wolfram syndrome
231
tangier disease
232
holoprosencephaly
233
roberts syndrome
234
pseudoachondroplasia
235
acute promyelocytic leukemia
236
juvenile polyposis syndrome
237
sotos syndrome
238
down syndrome
239
prolidase deficiency
240
ichthyosis vulgaris
241
chondrosarcoma
242
seckel syndrome
243
costello syndrome
244
barth syndrome
245
acromegaly
246
baller-gerold syndrome
247
sclerosteosis
248
dengue fever
249
sudden infant death syndrome
250
congenital adrenal hyperplasia
251
malignant hyperthermia
252
joubert syndrome
253
krabbe disease
254
mucopolysaccharidoses
255
thanatophoric dysplasia
256
ventricular septal defect
257
usher syndrome
258
galactokinase deficiency
259
catecholaminergic polymorphic ventricular tachycardia
260
mitral valve prolapse syndrome
261
crimean-congo hemorrhagic fever
262
retinopathy of prematurity
263
acute respiratory distress syndrome
264
adrenoleukodystrophy
265
hereditary coproporphyria
266
hepatoerythropoietic porphyria
267
dravet syndrome
268
juvenile myoclonic epilepsy
269
juvenile myelomonocytic leukemia
270
omphalocele
271
idiopathic intracranial hypertension
272
fetal alcohol syndrome
273
achalasia
274
camurati-engelmann disease
275
farber disease
276
autosomal dominant polycystic kidney disease
277
ellis van creveld syndrome
278
diastrophic dwarfism
279
adenomatous polyposis coli
280
thrombotic thrombocytopenic purpura
281
lowe syndrome
282
dermatomyositis
283
paget's disease
284
otosclerosis
285
myopathy
286
creutzfeldt jakob disease
287
abdominal aortic aneurysm
288
liddle syndrome
289
chediak-higashi syndrome
290
wolff-parkinson-white syndrome
291
junctional epidermolysis bullosa
292
sneddon syndrome
293
erdheim-chester disease
294
van der woude syndrome
295
coffin-lowry syndrome
296
thyroid hypoplasia
297
burkitt lymphoma
298
bernard-soulier syndrome
299
friedreich ataxia
300
caffey disease
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Query keywords:
Rare Disease
Scleroderma
;
Biotinidase deficiency
;
Coats disease
;
Cyclic neutropenia
;
Cystinuria