CF
MCID: CYS001
MIFTS: 80

Cystic Fibrosis (CF)

Categories: Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Cystic Fibrosis

MalaCards integrated aliases for Cystic Fibrosis:

Name: Cystic Fibrosis 56 12 74 52 25 58 73 36 29 13 54 6 42 43 15 37 62 39 71 32
Mucoviscidosis 56 12 52 25 58 73
Cf 56 12 52 25 58 73
Pseudomonas Aeruginosa, Susceptibility to Chronic Infection by, in Cystic Fibrosis 56 6
Pseudomonas Aeruginosa Chronic Infection by, in Cystic Fibrosis 56
Cystic Fibrosis Lung Disease, Modifier of 56
Fibrocystic Disease of Pancreas 25
Cystic Fibrosis of Pancreas 25

Characteristics:

Orphanet epidemiological data:

58
cystic fibrosis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: adult,young Adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
delta-f508 present in 70% of alleles


HPO:

31
cystic fibrosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare hepatic diseases
Rare infertility disorders
Rare respiratory diseases


External Ids:

Disease Ontology 12 DOID:1485
OMIM 56 219700
KEGG 36 H00218
ICD9CM 34 277.0
MeSH 43 D003550
NCIt 49 C2975
SNOMED-CT 67 85809002
MESH via Orphanet 44 D003550
ICD10 via Orphanet 33 E84.0 E84.1 E84.8 more
UMLS via Orphanet 72 C0010674
Orphanet 58 ORPHA586
MedGen 41 C0010674
UMLS 71 C0010674

Summaries for Cystic Fibrosis

Genetics Home Reference : 25 Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals. Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Most people with cystic fibrosis also have digestive problems. Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth. Other digestive problems result from a buildup of thick, sticky mucus in the pancreas. The pancreas is an organ that produces insulin (a hormone that helps control blood sugar levels). It also makes enzymes that help digest food. In people with cystic fibrosis, mucus often damages the pancreas, impairing its ability to produce insulin and digestive enzymes. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM). Cystic fibrosis used to be considered a fatal disease of childhood. With improved treatments and better ways to manage the disease, many people with cystic fibrosis now live well into adulthood. Adults with cystic fibrosis experience health problems affecting the respiratory, digestive, and reproductive systems. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm (the vas deferens) are blocked by mucus and do not develop properly. Men with CBAVD are unable to father children (infertile) unless they undergo fertility treatment. Women with cystic fibrosis may experience complications in pregnancy.

MalaCards based summary : Cystic Fibrosis, also known as mucoviscidosis, is related to cystic fibrosis and congenital absence of the vas deferens and bronchiectasis with or without elevated sweat chloride 1, and has symptoms including hemoptysis, snoring and coughing. An important gene associated with Cystic Fibrosis is CFTR (CF Transmembrane Conductance Regulator), and among its related pathways/superpathways are ABC transporters and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). The drugs Clarithromycin and Dexlansoprazole have been mentioned in the context of this disorder. Affiliated tissues include Lung, and related phenotypes are recurrent respiratory infections and malabsorption

Disease Ontology : 12 An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.

NIH Rare Diseases : 52 Cystic fibrosis (CF) is a genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas. Signs and symptoms may include salty-tasting skin; p ersistent coughing; f requent lung infections; w heezing or shortness of breath; p oor growth; weight loss; greasy, bulky stools; difficulty with bowel movements; and in males, infertility . Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. CF is caused by mutations in the CFTR gene and inheritance is autosomal recessive . Treatment aims to relieve symptoms and usually includes respiratory therapies, inhaled medicines, pancreatic enzyme supplement , and nutritional supplements. Newer medications such as CFTR modulators have been approved for use in the United States. Ongoing research is focused on finding a cure for the disease.

OMIM : 56 Cystic fibrosis (CF) is classically described as a triad of chronic obstructive pulmonary disease, exocrine pancreatic insufficiency, and elevation of sodium and chloride concentration in sweat. Almost all males with CF are infertile due to congenital bilateral absence of the vas deferens. The disorder is associated with decreased longevity (summary by Cutting, 2002). For discussion of a phenotype consisting of bronchiectasis with or without elevated sweat chloride caused by mutation in the genes encoding the 3 subunits of the epithelial sodium channel, see BESC1 (211400). (219700)

MedlinePlus : 42 Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and making it easy for bacteria to grow. This can lead to repeated lung infections and lung damage. The symptoms and severity of CF can vary. Some people have serious problems from birth. Others have a milder version of the disease that doesn't show up until they are teens or young adults. Sometimes you will have few symptoms, but later you may have more symptoms. CF is diagnosed through various tests, such as gene, blood, and sweat tests. There is no cure for CF, but treatments have improved greatly in recent years. In the past, most deaths from CF were in children and teenagers. Today, with improved treatments, some people who have CF are living into their forties, fifties, or older. Treatments may include chest physical therapy, nutritional and respiratory therapies, medicines, and exercise. NIH: National Heart, Lung, and Blood Institute

KEGG : 36 Cystic fibrosis (CF) is an autosomal recessive disorder of the exocrine glands caused by mutation of CFTR gene which encodes an ABC transporter for salt homeostasis. CF is a common lethal single-gene disorder in Caucasians with an incidence of 1 in 1500 to 1 in 6500, whereas it is rare among Orientals (1:90000). The common clinical features are chronic pulmonary infection with Pseudomonas aeruginosa, respiratory distress, and pancreatic insufficiency. A part of patients with CF present with a gastrointestinal blockage known as meconium ileus.

UniProtKB/Swiss-Prot : 73 Cystic fibrosis: A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive.

PubMed Health : 62 About cystic fibrosis: Cystic fibrosis (SIS-tik fi-BRO-sis), or CF, is an inherited disease of the secretory (see-KREH-tor-ee) glands. Secretory glands include glands that make mucus and sweat. "Inherited" means the disease is passed from parents to children through genes. People who have CF inherit two faulty genes for the disease—one from each parent. The parents likely don't have the disease themselves. CF mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.

Wikipedia : 74 Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver,... more...

Related Diseases for Cystic Fibrosis

Diseases related to Cystic Fibrosis via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1185, show less)
# Related Disease Score Top Affiliating Genes
1 cystic fibrosis and congenital absence of the vas deferens 34.8 TGFB1 FCGR2A CFTR
2 bronchiectasis with or without elevated sweat chloride 1 34.6 LOC111674475 LOC111674472 CFTR-AS1 CFTR
3 meconium ileus 33.4 CLCA1 CFTR
4 lung disease 32.9 TGFB1 S100A9 S100A8 CFTR
5 pulmonary disease, chronic obstructive 32.1 TGFB1 DEFB1 CLCA1 CFTR
6 idiopathic bronchiectasis 31.4 SCNN1A CFTR
7 acute diarrhea 30.5 STX1A SLC9A3R2 S100A9
8 cystic fibrosis, modifier of, 1 12.7
9 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 12.5
10 obsolete: follicular hamartoma-alopecia-cystic fibrosis syndrome 12.3
11 bronchiectasis with or without elevated sweat chloride 2 12.2
12 bronchiectasis with or without elevated sweat chloride 3 12.2
13 vas deferens, congenital bilateral aplasia of 12.0
14 allergic bronchopulmonary aspergillosis 11.8
15 bronchiectasis 11.8
16 fibrosis of extraocular muscles, congenital, 1 11.7
17 aspergillosis 11.7
18 respiratory failure 11.7
19 aquagenic syringeal acrokeratoderma 11.7
20 exocrine pancreatic insufficiency 11.6
21 mycobacterium abscessus 11.6
22 pancreatitis 11.6
23 keratomalacia 11.6
24 lubani-al saleh-teebi syndrome 11.5
25 panbronchiolitis, diffuse 11.5
26 cramp-fasciculation syndrome 11.5
27 shwachman-diamond syndrome 1 11.5
28 young syndrome 11.5
29 nontuberculous mycobacterial lung disease 11.5
30 pseudohypoaldosteronism, type i, autosomal recessive 11.5
31 middle lobe syndrome 11.5
32 hyperchlorhidrosis, isolated 11.2
33 bile acid synthesis defect, congenital, 2 11.2
34 bartter syndrome, type 3 11.2
35 bile acid synthesis defect, congenital, 1 11.2
36 mycobacterium avium complex infections 11.2
37 ileus 11.0
38 autosomal recessive disease 11.0
39 pancreatic ductal adenocarcinoma 11.0
40 liver disease 10.9
41 stenotrophomonas maltophilia infection 10.8
42 haemophilus influenzae 10.8
43 intestinal obstruction 10.8
44 bacterial infectious disease 10.8
45 portal hypertension 10.8
46 miliaria rubra 10.7 SCNN1A CFTR
47 pneumothorax 10.7
48 bronchitis 10.7
49 miliaria 10.7 SCNN1A CFTR
50 proteasome-associated autoinflammatory syndrome 1 10.7
51 bronchiolitis 10.7
52 infertility 10.7
53 glucose intolerance 10.7
54 osteonecrosis of the jaw 10.7 TGFB1 DEFB1
55 cardiac rupture 10.7 S100A9 S100A8
56 diabetes mellitus 10.6
57 bone disease 10.6
58 male infertility 10.6
59 bronchiolitis obliterans 10.6
60 alcoholic hepatitis 10.6
61 chromophobe renal cell carcinoma 10.6
62 renal oncocytoma 10.6
63 gastroesophageal reflux 10.6
64 pulmonary hypertension 10.6
65 azoospermia 10.6
66 inflammatory diarrhea 10.6 SLC9A3R2 SLC9A3R1
67 body mass index quantitative trait locus 1 10.6
68 primary ciliary dyskinesia 10.6
69 liver cirrhosis 10.6
70 cholestasis 10.6
71 hyperglycemia 10.6
72 overgrowth syndrome 10.6
73 acute pancreatitis 10.6
74 diarrhea 10.5
75 constipation 10.5
76 ige responsiveness, atopic 10.5
77 intussusception 10.5
78 arthropathy 10.5
79 allergic hypersensitivity disease 10.5
80 hypoglycemia 10.5
81 exanthem 10.5
82 bone mineral density quantitative trait locus 3 10.5
83 cytokine deficiency 10.5
84 celiac disease 1 10.5
85 pneumonia 10.5
86 amyloidosis 10.5
87 osteoporosis 10.5
88 bone mineral density quantitative trait locus 8 10.5
89 bone mineral density quantitative trait locus 15 10.5
90 47,xyy 10.5
91 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.5
92 cholelithiasis 10.5
93 rhinitis 10.5
94 varicose veins 10.4
95 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
96 kidney disease 10.4
97 appendicitis 10.4
98 cholangitis 10.4
99 splenomegaly 10.4
100 crohn's disease 10.4
101 hypereosinophilic syndrome 10.4
102 bone resorption disease 10.4
103 pulmonary fibrosis 10.4
104 intestinal disease 10.4
105 influenza 10.4
106 iron metabolism disease 10.4
107 asthma 10.4
108 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.4
109 idiopathic interstitial pneumonia 10.4
110 bartter disease 10.4
111 pancreatitis, hereditary 10.4
112 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
113 hydrops, lactic acidosis, and sideroblastic anemia 10.4
114 vitamin k deficiency bleeding 10.4
115 recurrent acute pancreatitis 10.4
116 pelvic organ prolapse 10.4
117 anxiety 10.4
118 sickle cell disease 10.4
119 colorectal cancer 10.4
120 gallbladder disease 1 10.4
121 deficiency anemia 10.4
122 cholera 10.4
123 thrombophilia due to thrombin defect 10.3
124 pancreatic cancer 10.3
125 peritonitis 10.3
126 48,xyyy 10.3
127 pneumothorax, primary spontaneous 10.3
128 phenylketonuria 10.3
129 sclerosing cholangitis 10.3
130 pleural empyema 10.3
131 hypokalemia 10.3
132 cardiac sarcoidosis 10.3 S100A9 S100A8
133 nephrolithiasis, calcium oxalate 10.3
134 allergic rhinitis 10.3
135 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
136 bronchopneumonia 10.3
137 pancreatic agenesis 1 10.3
138 hypothyroidism 10.3
139 acute kidney failure 10.3
140 vasculitis 10.3
141 chromosomal triplication 10.3
142 otitis media 10.3
143 sleep apnea 10.3
144 polycystic kidney disease 10.3
145 pertussis 10.3
146 esophageal varix 10.3
147 dermatitis 10.3
148 pancreatic adenocarcinoma 10.3
149 intestinal volvulus 10.3
150 down syndrome 10.3
151 insulin-like growth factor i 10.3
152 alpha-1-antitrypsin deficiency 10.3
153 inflammatory bowel disease 10.3
154 colitis 10.3
155 dental caries 10.3
156 pik3ca-related overgrowth syndrome 10.3
157 invasive aspergillosis 10.3
158 secretory diarrhea 10.3
159 gallbladder disease 10.3
160 disease of mental health 10.3
161 adenocarcinoma 10.3
162 muscular atrophy 10.3
163 sarcoidosis 1 10.2
164 triiodothyronine receptor auxiliary protein 10.2
165 fatty liver disease, nonalcoholic 1 10.2
166 gestational diabetes 10.2
167 protein-energy malnutrition 10.2
168 nephrocalcinosis 10.2
169 hypersplenism 10.2
170 muscular dystrophy 10.2
171 cholangitis, primary sclerosing 10.2
172 complement factor b deficiency 10.2
173 clostridium difficile colitis 10.2
174 agammaglobulinemia 10.2
175 chronic kidney disease 10.2
176 acrodermatitis enteropathica, zinc-deficiency type 10.2
177 neutrophil migration 10.2
178 yemenite deaf-blind hypopigmentation syndrome 10.2
179 drug allergy 10.2
180 sensorineural hearing loss 10.2
181 nephrotic syndrome 10.2
182 keratoconjunctivitis sicca 10.2
183 hyperparathyroidism 10.2
184 biliary atresia 10.2
185 cholecystitis 10.2
186 acrodermatitis 10.2
187 eating disorder 10.2
188 enteropathica 10.2
189 pulmonary fibrosis, idiopathic 10.2
190 polycystic kidney disease 1 with or without polycystic liver disease 10.2
191 diabetes mellitus, insulin-dependent 10.2
192 melioidosis 10.2
193 scoliosis 10.2
194 hypogonadism 10.2
195 hypogonadotropism 10.2
196 arthritis 10.2
197 depression 10.2
198 hypoxia 10.2
199 resting heart rate, variation in 10.2
200 thrombosis 10.2
201 xerophthalmia 10.2
202 secondary hyperparathyroidism 10.2
203 kwashiorkor 10.2
204 interstitial lung disease 10.2
205 purpura 10.2
206 cataract 10.2
207 autosomal dominant polycystic kidney disease 10.2
208 orthostatic intolerance 10.1
209 tay-sachs disease 10.1
210 muscular dystrophy, duchenne type 10.1
211 esophagitis 10.1
212 neutropenia 10.1
213 toxic shock syndrome 10.1
214 candidiasis 10.1
215 vascular disease 10.1
216 pulmonary tuberculosis 10.1
217 peptic ulcer disease 10.1
218 allergic asthma 10.1
219 headache 10.1
220 rheumatoid arthritis 10.1
221 hypertriglyceridemia, familial 10.1
222 autoimmune disease 10.1
223 hemochromatosis, type 1 10.1
224 jejunal atresia 10.1
225 ataxia and polyneuropathy, adult-onset 10.1
226 anorexia nervosa 10.1
227 microvascular complications of diabetes 3 10.1
228 microvascular complications of diabetes 4 10.1
229 microvascular complications of diabetes 6 10.1
230 microvascular complications of diabetes 7 10.1
231 helix syndrome 10.1
232 chlamydia 10.1
233 goiter 10.1
234 spinal muscular atrophy 10.1
235 respiratory syncytial virus infectious disease 10.1
236 urticaria 10.1
237 pharyngitis 10.1
238 thrombophilia 10.1
239 pancreas disease 10.1
240 hemoglobinopathy 10.1
241 glomerulonephritis 10.1
242 hemolytic anemia 10.1
243 night blindness 10.1
244 chickenpox 10.1
245 bacterial pneumonia 10.1
246 fatty liver disease 10.1
247 pulmonary embolism 10.1
248 mycobacterium chelonae 10.1
249 rapidly involuting congenital hemangioma 10.1
250 neural tube defects 10.1
251 neurofibromatosis, type iv, of riccardi 10.1
252 immune deficiency disease 10.1
253 fragile x syndrome 10.1
254 mannose-binding lectin deficiency 10.1
255 leukemia, acute lymphoblastic 3 10.1
256 cholangiocarcinoma 10.1
257 crohn's colitis 10.1
258 lung abscess 10.1
259 respiratory allergy 10.1
260 thalassemia 10.1
261 osteomalacia 10.1
262 pancreatic steatorrhea 10.1
263 tetanus 10.1
264 typhoid fever 10.1
265 paranasal sinus disease 10.1
266 patent foramen ovale 10.1
267 pleural disease 10.1
268 duodenal ulcer 10.1
269 lipomatosis 10.1
270 palmoplantar keratosis 10.1
271 glucose metabolism disease 10.1
272 intrahepatic cholangiocarcinoma 10.1
273 sleep disorder 10.1
274 severe combined immunodeficiency 10.1
275 ulcerative colitis 10.1
276 neuropathy 10.1
277 keratoconjunctivitis 10.1
278 bronchopulmonary dysplasia 10.1
279 back pain 10.1
280 argyria 10.1
281 attention deficit-hyperactivity disorder 10.0
282 atrial standstill 1 10.0
283 chylomicron retention disease 10.0
284 ocular motor apraxia 10.0
285 body mass index quantitative trait locus 11 10.0
286 body mass index quantitative trait locus 9 10.0
287 body mass index quantitative trait locus 8 10.0
288 sickle cell anemia 10.0
289 body mass index quantitative trait locus 4 10.0
290 body mass index quantitative trait locus 10 10.0
291 body mass index quantitative trait locus 7 10.0
292 body mass index quantitative trait locus 12 10.0
293 body mass index quantitative trait locus 14 10.0
294 microvascular complications of diabetes 5 10.0
295 cyanosis, transient neonatal 10.0
296 barrett esophagus 10.0
297 body mass index quantitative trait locus 18 10.0
298 body mass index quantitative trait locus 19 10.0
299 body mass index quantitative trait locus 20 10.0
300 congenital hypothyroidism 10.0
301 tracheomalacia 10.0
302 dry eye syndrome 10.0
303 common cold 10.0
304 intestinal atresia 10.0
305 giardiasis 10.0
306 adult respiratory distress syndrome 10.0
307 pulmonary edema 10.0
308 patau syndrome 10.0
309 iron deficiency anemia 10.0
310 bronchial disease 10.0
311 optic neuritis 10.0
312 pulmonary sarcoidosis 10.0
313 obstructive jaundice 10.0
314 pericarditis 10.0
315 neuritis 10.0
316 impotence 10.0
317 gaucher's disease 10.0
318 hyperinsulinism 10.0
319 gastroenteritis 10.0
320 iga glomerulonephritis 10.0
321 gingivitis 10.0
322 lipid metabolism disorder 10.0
323 chronic granulomatous disease 10.0
324 pseudohypoaldosteronism 10.0
325 middle ear disease 10.0
326 colonic disease 10.0
327 congestive heart failure 10.0
328 combined t cell and b cell immunodeficiency 10.0
329 neuroblastoma 10.0
330 gastrointestinal system disease 10.0
331 end stage renal failure 10.0
332 stomatitis 10.0
333 hemophilia 10.0
334 anoxia 10.0
335 cytomegalovirus infection 10.0
336 scedosporiosis 10.0
337 ornithosis 10.0
338 encephalitis 10.0
339 lipoid congenital adrenal hyperplasia 10.0
340 ataxia-telangiectasia 10.0
341 silver-russell syndrome 10.0
342 pulmonary hypertension, primary, 1 10.0
343 keratitis, hereditary 10.0
344 hair whorl 10.0
345 esophageal cancer 10.0
346 hepatocellular carcinoma 10.0
347 alcohol dependence 10.0
348 neurofibromatosis, type ii 10.0
349 galactosemia 10.0
350 gaucher disease, type i 10.0
351 hypervitaminosis a 10.0
352 ciliary dyskinesia, primary, 1 10.0
353 taqi polymorphism 10.0
354 acute insulin response 10.0
355 branchiootic syndrome 1 10.0
356 cervical cancer 10.0
357 myocardial infarction 10.0
358 congenital chloride diarrhea 10.0
359 cardiac arrest 10.0
360 inguinal hernia 10.0
361 lymphoproliferative syndrome 10.0
362 oligoasthenoteratozoospermia 10.0
363 physical disorder 10.0
364 lymphocytic leukemia 10.0
365 megacolon 10.0
366 hemosiderosis 10.0
367 primary biliary cirrhosis 10.0
368 leukemia 10.0
369 hepatitis a 10.0
370 hyperinsulinemic hypoglycemia 10.0
371 squamous cell papilloma 10.0
372 alcohol use disorder 10.0
373 hepatitis c 10.0
374 maxillary sinusitis 10.0
375 nocardiosis 10.0
376 neonatal jaundice 10.0
377 papilloma 10.0
378 synovitis 10.0
379 bilirubin metabolic disorder 10.0
380 vaccinia 10.0
381 skin disease 10.0
382 thrombophlebitis 10.0
383 gastritis 10.0
384 bile duct disease 10.0
385 peripheral nervous system disease 10.0
386 inherited metabolic disorder 10.0
387 adenoma 10.0
388 juvenile rheumatoid arthritis 10.0
389 choline deficiency disease 10.0
390 duodenitis 10.0
391 intracranial hypertension 10.0
392 biliary tract disease 10.0
393 amyloidosis aa 10.0
394 mycobacterium kansasii 10.0
395 post-transplant lymphoproliferative disease 10.0
396 autonomic dysfunction 10.0
397 chronic pain 10.0
398 encephalopathy 10.0
399 fibrosarcoma 10.0
400 esophagus squamous cell carcinoma 10.0
401 thrombophilia due to activated protein c resistance 9.9
402 syringomyelia, noncommunicating isolated 9.9
403 polykaryocytosis inducer 9.9
404 myositis 9.9
405 migraine with or without aura 1 9.9
406 hypercholesterolemia, familial, 1 9.9
407 atherosclerosis susceptibility 9.9
408 apnea, obstructive sleep 9.9
409 enterocolitis 9.9
410 hutterite cerebroosteonephrodysplasia syndrome 9.9
411 intracranial hypertension, idiopathic 9.9
412 wilson disease 9.9
413 creatinine clearance quantitative trait locus 9.9
414 mycobacterium tuberculosis 1 9.9
415 leukemia, acute lymphoblastic 9.9
416 bile acid malabsorption, primary 9.9
417 retinitis pigmentosa 73 9.9
418 mucopolysaccharidosis-plus syndrome 9.9
419 mulchandani-bhoj-conlin syndrome 9.9
420 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.9
421 pulmonary aspergilloma 9.9
422 hypophosphatemia 9.9
423 autosomal recessive cerebellar ataxia 9.9
424 non-alcoholic fatty liver disease 9.9
425 hypogonadotropic hypogonadism 9.9
426 pre-eclampsia 9.9
427 short bowel syndrome 9.9
428 rickets 9.9
429 cystinosis 9.9
430 hydrocephalus 9.9
431 heart disease 9.9
432 polycystic ovary syndrome 9.9
433 prediabetes syndrome 9.9
434 gastroparesis 9.9
435 acute leukemia 9.9
436 telangiectasis 9.9
437 amenorrhea 9.9
438 oligospermia 9.9
439 papilledema 9.9
440 rheumatic disease 9.9
441 thrombocytopenia 9.9
442 cystitis 9.9
443 retinal vein occlusion 9.9
444 factitious disorder 9.9
445 optic nerve disease 9.9
446 hyperuricemia 9.9
447 endometriosis 9.9
448 testicular cancer 9.9
449 syringomyelia 9.9
450 laryngitis 9.9
451 myopathy 9.9
452 neuromuscular disease 9.9
453 neurotic disorder 9.9
454 alcoholic pancreatitis 9.9
455 conjunctivitis 9.9
456 connective tissue disease 9.9
457 cerebrovascular disease 9.9
458 measles 9.9
459 gas gangrene 9.9
460 status asthmaticus 9.9
461 exophthalmos 9.9
462 blepharitis 9.9
463 myotonic dystrophy 9.9
464 diencephalic syndrome 9.9
465 dwarfism 9.9
466 growth hormone deficiency 9.9
467 mycetoma 9.9
468 partial deletion of y 9.9
469 dysphagia 9.9
470 hypotonia 9.9
471 spinocerebellar degeneration 9.9
472 plastic bronchitis 9.9
473 spondylometaphyseal dysplasia, corner fracture type 9.9
474 spondyloepimetaphyseal dysplasia, strudwick type 9.9
475 coxa vara 9.9
476 fanconi anemia, complementation group d2 9.9
477 fanconi anemia, complementation group a 9.9
478 human immunodeficiency virus type 1 9.9
479 coenzyme q10 deficiency disease 9.9
480 postural orthostatic tachycardia syndrome 9.9
481 glioblastoma multiforme 9.9
482 lassa fever 9.9
483 babesiosis 9.9
484 ciguatera fish poisoning 9.9
485 disseminated infection with mycobacterium avium complex 9.9
486 pure autonomic failure 9.9
487 renal hypodysplasia/aplasia 1 9.8
488 autism 9.8
489 bronchomalacia 9.8
490 diarrhea 1, secretory chloride, congenital 9.8
491 cystinosis, nephropathic 9.8
492 polycystic liver disease 1 with or without kidney cysts 9.8
493 obsessive-compulsive disorder 9.8
494 systemic lupus erythematosus 9.8
495 hypertension, essential 9.8
496 hypertelorism 9.8
497 huntington disease 9.8
498 immunoglobulin a deficiency 1 9.8
499 diabetes mellitus, noninsulin-dependent 9.8
500 leukocyte adhesion deficiency, type i 9.8
501 cardiac arrhythmia 9.8
502 breast cancer 9.8
503 diastrophic dysplasia 9.8
504 factor vii deficiency 9.8
505 lymphoma, hodgkin, classic 9.8
506 maple syrup urine disease 9.8
507 methane production 9.8
508 mucus inspissation of respiratory tract 9.8
509 myasthenia gravis 9.8
510 3-methylglutaconic aciduria, type iii 9.8
511 osteogenic sarcoma 9.8
512 periodontitis, chronic 9.8
513 retinitis pigmentosa 9.8
514 pendred syndrome 9.8
515 muscular dystrophy, becker type 9.8
516 helicobacter pylori infection 9.8
517 stroke, ischemic 9.8
518 agammaglobulinemia 1, autosomal recessive 9.8
519 macular degeneration, age-related, 1 9.8
520 homocysteinemia 9.8
521 aceruloplasminemia 9.8
522 legionnaire disease 9.8
523 diabetes mellitus, ketosis-prone 9.8
524 lung cancer susceptibility 3 9.8
525 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 9.8
526 beta-thalassemia 9.8
527 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.8
528 chlamydia pneumonia 9.8
529 keshan disease 9.8
530 kartagener syndrome 9.8
531 secondary progressive multiple sclerosis 9.8
532 endocervical adenocarcinoma 9.8
533 immunoglobulin alpha deficiency 9.8
534 sexual disorder 9.8
535 lymphoma 9.8
536 mastoiditis 9.8
537 ectopic pregnancy 9.8
538 pollen allergy 9.8
539 penicillin allergy 9.8
540 progressive familial intrahepatic cholestasis 9.8
541 pelvic inflammatory disease 9.8
542 neuroretinitis 9.8
543 osteomyelitis 9.8
544 hypopyon 9.8
545 thrombotic thrombocytopenic purpura 9.8
546 diphtheria 9.8
547 visual epilepsy 9.8
548 conn's syndrome 9.8
549 inflammatory spondylopathy 9.8
550 marasmus 9.8
551 pancytopenia 9.8
552 acute kidney tubular necrosis 9.8
553 locked-in syndrome 9.8
554 quadriplegia 9.8
555 uveitis 9.8
556 acute cystitis 9.8
557 polyneuropathy 9.8
558 facial paralysis 9.8
559 peptic esophagitis 9.8
560 alcoholic liver cirrhosis 9.8
561 phaeohyphomycosis 9.8
562 renal tubular acidosis 9.8
563 gonadal dysgenesis 9.8
564 acute chest syndrome 9.8
565 mental depression 9.8
566 viral hepatitis 9.8
567 intestinal perforation 9.8
568 ectodermal dysplasia 9.8
569 colon adenocarcinoma 9.8
570 protein s deficiency 9.8
571 severe acute respiratory syndrome 9.8
572 substance abuse 9.8
573 lysosomal storage disease 9.8
574 myelitis 9.8
575 tracheal stenosis 9.8
576 mood disorder 9.8
577 plague 9.8
578 turner syndrome 9.8
579 duodenal obstruction 9.8
580 choriocarcinoma 9.8
581 retinitis 9.8
582 aortic aneurysm 9.8
583 lactic acidosis 9.8
584 duodenogastric reflux 9.8
585 tricuspid valve insufficiency 9.8
586 common bile duct disease 9.8
587 macular retinal edema 9.8
588 endophthalmitis 9.8
589 poliomyelitis 9.8
590 nutritional deficiency disease 9.8
591 eye disease 9.8
592 acquired immunodeficiency syndrome 9.8
593 spondylitis 9.8
594 hepatoblastoma 9.8
595 b-cell lymphoma 9.8
596 diverticulitis 9.8
597 situs inversus 9.8
598 placenta disease 9.8
599 hyperthyroidism 9.8
600 mediastinitis 9.8
601 periodontitis 9.8
602 extrinsic allergic alveolitis 9.8
603 polycythemia 9.8
604 herpes simplex 9.8
605 in situ carcinoma 9.8
606 rubella 9.8
607 chorioretinitis 9.8
608 hepatopulmonary syndrome 9.8
609 pulmonary eosinophilia 9.8
610 pulmonary emphysema 9.8
611 alopecia 9.8
612 hydrocele 9.8
613 periostitis 9.8
614 hypervitaminosis d 9.8
615 aminoaciduria 9.8
616 brittle diabetes 9.8
617 candida glabrata 9.8
618 hemiplegic migraine 9.8
619 macrophage activation syndrome 9.8
620 mycobacterium fortuitum 9.8
621 mycobacterium gordonae 9.8
622 nodular regenerative hyperplasia 9.8
623 periodontal ehlers-danlos syndrome 9.8
624 primary agammaglobulinemia 9.8
625 radiation induced cancer 9.8
626 surfactant dysfunction 9.8
627 paresthesia 9.8
628 seizure disorder 9.8
629 tremor 9.8
630 uniparental disomy of chromosome 7 9.8
631 familial intrahepatic cholestasis 9.8
632 bronchiolitis obliterans with obstructive pulmonary disease 9.8
633 hepatoportal sclerosis 9.8
634 acrokeratoderma 9.8
635 maternal uniparental disomy 9.8
636 male infertility due to obstructive azoospermia 9.8
637 thyroid carcinoma 9.8
638 tangier disease 9.8
639 cystinuria 9.8
640 wiskott-aldrich syndrome 9.8
641 aplastic anemia 9.8
642 premature ovarian failure 7 9.8
643 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
644 carbonic anhydrase va deficiency, hyperammonemia due to 9.8
645 ophthalmomyiasis 9.8
646 chronic maxillary sinusitis 9.8
647 myiasis 9.8
648 hypoparathyroidism 9.8
649 pneumatosis cystoides intestinalis 9.8
650 enthesopathy 9.8
651 thyroid gland disease 9.8
652 hemoglobin d disease 9.8
653 albinism 9.8
654 rare cardiomyopathy 9.8
655 undetermined colitis 9.8
656 wilms tumor 1 9.7
657 pheochromocytoma 9.7
658 papillomatosis, confluent and reticulated 9.7
659 renal cell carcinoma, nonpapillary 9.7
660 exostoses, multiple, type ii 9.7
661 creutzfeldt-jakob disease 9.7
662 tardive dyskinesia 9.7
663 squamous cell carcinoma, head and neck 9.7
664 arts syndrome 9.7
665 wilms tumor 5 9.7
666 chudley-mccullough syndrome 9.7
667 kala-azar 1 9.7
668 intraocular pressure quantitative trait locus 9.7
669 pulmonary hypertension, primary, 2 9.7
670 immunodeficiency 16 9.7
671 tick-borne encephalitis 9.7
672 anaplastic large cell lymphoma 9.7
673 mantle cell lymphoma 9.7
674 focal dystonia 9.7
675 adrenal gland pheochromocytoma 9.7
676 lung mucoepidermoid carcinoma 9.7
677 cutaneous t cell lymphoma 9.7
678 mucositis 9.7
679 alzheimer's disease 1 9.7
680 non-alcoholic steatohepatitis 9.7
681 acquired von willebrand syndrome 9.7
682 pinta disease 9.7
683 cholesteatoma of middle ear 9.7
684 q fever 9.7
685 spotted fever 9.7
686 disseminated intravascular coagulation 9.7
687 social phobia 9.7
688 rabies 9.7
689 pyelonephritis 9.7
690 suppurative otitis media 9.7
691 familial hyperlipidemia 9.7
692 clubfoot 9.7
693 lymphocytic choriomeningitis 9.7
694 bell's palsy 9.7
695 paracoccidioidomycosis 9.7
696 migraine without aura 9.7
697 guillain-barre syndrome 9.7
698 dementia 9.7
699 familial hypercholesterolemia 9.7
700 benign paroxysmal positional nystagmus 9.7
701 avoidant personality disorder 9.7
702 personality disorder 9.7
703 endogenous depression 9.7
704 squamous cell carcinoma 9.7
705 tularemia 9.7
706 relapsing-remitting multiple sclerosis 9.7
707 hereditary spastic paraplegia 9.7
708 kidney cancer 9.7
709 benign mesothelioma 9.7
710 proctitis 9.7
711 histiocytosis 9.7
712 gastric adenocarcinoma 9.7
713 cervical squamous cell carcinoma 9.7
714 hermaphroditism 9.7
715 mucoepidermoid carcinoma 9.7
716 multiple chemical sensitivity 9.7
717 essential tremor 9.7
718 dystonia 9.7
719 anterolateral myocardial infarction 9.7
720 paraplegia 9.7
721 mite infestation 9.7
722 septic arthritis 9.7
723 osteoarthritis 9.7
724 congenital fibrosarcoma 9.7
725 pellagra 9.7
726 malignant histiocytosis 9.7
727 leishmaniasis 9.7
728 cutaneous leishmaniasis 9.7
729 herpes zoster oticus 9.7
730 acute myocardial infarction 9.7
731 toxoplasmosis 9.7
732 anaplastic oligoastrocytoma 9.7
733 aspergillus niger infection 9.7
734 chronic thromboembolic pulmonary hypertension 9.7
735 hyperacusis 9.7
736 myxozoa 9.7
737 ring chromosome 3 9.7
738 triploidy 9.7
739 trisomy 22 9.7
740 head injury 9.7
741 whiplash 9.7
742 supernumerary breasts 9.7
743 thyroid cancer, nonmedullary, 1 9.7
744 tracheoesophageal fistula with or without esophageal atresia 9.7
745 suppressor of tumorigenicity 3 9.7
746 vitiligo-associated multiple autoimmune disease susceptibility 6 9.7
747 von hippel-lindau syndrome 9.7
748 abetalipoproteinemia 9.7
749 acyl-coa dehydrogenase, medium-chain, deficiency of 9.7
750 anencephaly 9.7
751 anus, imperforate 9.7
752 ascites, chylous 9.7
753 cholestasis, progressive familial intrahepatic, 1 9.7
754 lung cancer 9.7
755 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7
756 apparent mineralocorticoid excess 9.7
757 cryptorchidism, unilateral or bilateral 9.7
758 cystathioninuria 9.7
759 thrombocytopenic purpura, autoimmune 9.7
760 theophylline biotransformation 9.7
761 tetralogy of fallot 9.7
762 telecanthus 9.7
763 small cell cancer of the lung 9.7
764 scleroderma, familial progressive 9.7
765 robinow syndrome, autosomal dominant 1 9.7
766 retinoblastoma 9.7
767 dowling-degos disease 1 9.7
768 renal tubular acidosis, proximal 9.7
769 pyloric stenosis, infantile hypertrophic, 1 9.7
770 pulmonary hemosiderosis 9.7
771 liddle syndrome 1 9.7
772 pernicious anemia 9.7
773 prolidase deficiency 9.7
774 ovarian cancer 9.7
775 neutrophilia, hereditary 9.7
776 neuropathy, hereditary, with liability to pressure palsies 9.7
777 neurofibromatosis, type i 9.7
778 marfan syndrome 9.7
779 hypomagnesemia 2, renal 9.7
780 macroglossia 9.7
781 lacrimal duct defect 9.7
782 immunoglobulin e concentration, serum 9.7
783 hypercalcemia, infantile, 1 9.7
784 gilbert syndrome 9.7
785 hernia, hiatus 9.7
786 diaphragmatic hernia, congenital 9.7
787 fucosidase regulator 9.7
788 birt-hogg-dube syndrome 9.7
789 erythroleukemia, familial 9.7
790 beckwith-wiedemann syndrome 9.7
791 cleft palate, isolated 9.7
792 cerebrocostomandibular syndrome 9.7
793 bladder cancer 9.7
794 arteries, anomalies of 9.7
795 spondyloarthropathy 1 9.7
796 amyotrophic lateral sclerosis 1 9.7
797 acroosteolysis 9.7
798 acrokeratoderma, hereditary papulotranslucent 9.7
799 aortic aneurysm, familial abdominal, 1 9.7
800 duodenal atresia 9.7
801 schopf-schulz-passarge syndrome 9.7
802 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.7
803 enterokinase deficiency 9.7
804 galactokinase deficiency 9.7
805 gm1-gangliosidosis, type ii 9.7
806 gastroschisis 9.7
807 glycogen storage disease ii 9.7
808 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.7
809 leprosy 3 9.7
810 spinal muscular atrophy, type i 9.7
811 myeloma, multiple 9.7
812 niemann-pick disease, type c1 9.7
813 nonarteritic anterior ischemic optic neuropathy 9.7
814 subacute sclerosing panencephalitis 9.7
815 pseudoxanthoma elasticum 9.7
816 sudden infant death syndrome 9.7
817 mayer-rokitansky-kuster-hauser syndrome 9.7
818 barth syndrome 9.7
819 colonic atresia 9.7
820 hemophilia b 9.7
821 myopathy, centronuclear, x-linked 9.7
822 aging 9.7
823 neuronal intestinal dysplasia, type b 9.7
824 leukemia, acute myeloid 9.7
825 autoimmune lymphoproliferative syndrome 9.7
826 cholestasis, progressive familial intrahepatic, 3 9.7
827 bile duct cysts 9.7
828 astigmatism 9.7
829 dermatitis, atopic 9.7
830 brittle bone disorder 9.7
831 microvascular complications of diabetes 1 9.7
832 huntington disease-like 3 9.7
833 lymphoma, non-hodgkin, familial 9.7
834 tricuspid atresia 9.7
835 abdominal obesity-metabolic syndrome 1 9.7
836 huntington disease-like 2 9.7
837 vitiligo-associated multiple autoimmune disease susceptibility 1 9.7
838 lymphangioleiomyomatosis 9.7
839 spermatogenic failure 3 9.7
840 scheie syndrome 9.7
841 nasopharyngeal carcinoma 9.7
842 epileptic encephalopathy, early infantile, 6 9.7
843 epilepsy, partial, with pericentral spikes 9.7
844 bulimia nervosa 9.7
845 hypotrichosis-lymphedema-telangiectasia syndrome 9.7
846 hypertensive nephropathy 9.7
847 endometrial cancer 9.7
848 ovarian hyperstimulation syndrome 9.7
849 tropical calcific pancreatitis 9.7
850 systemic lupus erythematosus 4 9.7
851 inflammatory bowel disease 9 9.7
852 major depressive disorder 9.7
853 asthma-related traits 2 9.7
854 hepatitis c virus 9.7
855 esophagitis, eosinophilic, 1 9.7
856 testicular microlithiasis 9.7
857 preterm premature rupture of the membranes 9.7
858 chromosome 16p13.3 deletion syndrome, proximal 9.7
859 asthma-related traits 4 9.7
860 malaria 9.7
861 kawasaki disease 9.7
862 ciliary dyskinesia, primary, 8 9.7
863 major affective disorder 8 9.7
864 major affective disorder 9 9.7
865 acute promyelocytic leukemia 9.7
866 microvascular complications of diabetes 2 9.7
867 encephalocraniocutaneous lipomatosis 9.7
868 ectodermal dysplasia-syndactyly syndrome 2 9.7
869 gastric cancer 9.7
870 mammary-digital-nail syndrome 9.7
871 muscle hypertrophy 9.7
872 microcephaly, epilepsy, and diabetes syndrome 9.7
873 myelodysplastic syndrome 9.7
874 membranous nephropathy 9.7
875 cfhr5 deficiency 9.7
876 leptin deficiency or dysfunction 9.7
877 riboflavin deficiency 9.7
878 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 9.7
879 hyperprolactinemia 9.7
880 pachyonychia congenita 3 9.7
881 encephalopathy, progressive, with or without lipodystrophy 9.7
882 acid-labile subunit deficiency 9.7
883 portal hypertension, noncirrhotic 9.7
884 hyperlipoproteinemia, type iii 9.7
885 chronic ulcer of skin 9.7
886 tendinopathy 9.7
887 tendinitis 9.7
888 carbapenem allergy 9.7
889 streptococcus pneumonia 9.7
890 bacterial sepsis 9.7
891 autoimmune pancreatitis 9.7
892 osmotic diarrhea 9.7
893 cryptogenic organizing pneumonia 9.7
894 restless legs syndrome 9.7
895 exudative vitreoretinopathy 9.7
896 vitamin b12 deficiency 9.7
897 autosomal genetic disease 9.7
898 metabolic acidosis 9.7
899 oculogyric crisis 9.7
900 oppositional defiant disorder 9.7
901 colorectal adenocarcinoma 9.7
902 villous adenoma 9.7
903 fibroma 9.7
904 infective endocarditis 9.7
905 withdrawal disorder 9.7
906 munchausen by proxy 9.7
907 aphasia 9.7
908 pain agnosia 9.7
909 microscopic colitis 9.7
910 ileitis 9.7
911 ileocolitis 9.7
912 idiopathic scoliosis 9.7
913 myelomeningocele 9.7
914 3-methylglutaconic aciduria 9.7
915 glucocorticoid-induced osteoporosis 9.7
916 beta-lactam allergy 9.7
917 dextro-looped transposition of the great arteries 9.7
918 salmonellosis 9.7
919 isolated growth hormone deficiency 9.7
920 neuronal intestinal dysplasia 9.7
921 mixed sleep apnea 9.7
922 igg4-related disease 9.7
923 bronchiectasis 2 9.7
924 bronchiectasis 3 9.7
925 migraine with aura 9.7
926 interstitial emphysema 9.7
927 osteonecrosis 9.7
928 dermatomyositis 9.7
929 aortic atherosclerosis 9.7
930 mumps 9.7
931 pneumoconiosis 9.7
932 anthracosis 9.7
933 secondary hypertrophic osteoarthropathy 9.7
934 tonsillitis 9.7
935 nasopharyngitis 9.7
936 esophageal atresia 9.7
937 mild pre-eclampsia 9.7
938 charcot-marie-tooth disease 9.7
939 lactose intolerance 9.7
940 tropical sprue 9.7
941 interstitial nephritis 9.7
942 frontal sinusitis 9.7
943 gastric ulcer 9.7
944 salivary gland disease 9.7
945 tooth disease 9.7
946 lipoid nephrosis 9.7
947 discitis 9.7
948 ovarian disease 9.7
949 depersonalization disorder 9.7
950 hydronephrosis 9.7
951 prostatic hypertrophy 9.7
952 sarcoma 9.7
953 cholecystolithiasis 9.7
954 anhidrosis 9.7
955 primary hyperparathyroidism 9.7
956 allergic conjunctivitis 9.7
957 arteriovenous malformation 9.7
958 pneumocystosis 9.7
959 subdural empyema 9.7
960 hemopericardium 9.7
961 cardiac tamponade 9.7
962 mitral valve insufficiency 9.7
963 autonomic neuropathy 9.7
964 retinal vasculitis 9.7
965 hyperandrogenism 9.7
966 choledocholithiasis 9.7
967 pericardial effusion 9.7
968 coronary artery anomaly 9.7
969 panuveitis 9.7
970 cryptococcosis 9.7
971 pulmonary alveolar proteinosis 9.7
972 dysthymic disorder 9.7
973 aseptic meningitis 9.7
974 common variable immunodeficiency 9.7
975 bile reflux 9.7
976 atypical depressive disorder 9.7
977 shigellosis 9.7
978 hepatic coma 9.7
979 hemolytic-uremic syndrome 9.7
980 hypertrophic pyloric stenosis 9.7
981 pyloric stenosis 9.7
982 sialolithiasis 9.7
983 dilated cardiomyopathy 9.7
984 focal segmental glomerulosclerosis 9.7
985 severe pre-eclampsia 9.7
986 hellp syndrome 9.7
987 gout 9.7
988 klebsiella pneumonia 9.7
989 ehlers-danlos syndrome 9.7
990 hepatic encephalopathy 9.7
991 coccidioidomycosis 9.7
992 eclampsia 9.7
993 excessive tearing 9.7
994 pharyngoconjunctival fever 9.7
995 sick sinus syndrome 9.7
996 ureterolithiasis 9.7
997 adult-onset still's disease 9.7
998 acute cholangitis 9.7
999 generalized anxiety disorder 9.7
1000 niemann-pick disease 9.7
1001 prostatitis 9.7
1002 lymphangioma 9.7
1003 gingival disease 9.7
1004 cystic echinococcosis 9.7
1005 echinococcosis 9.7
1006 reproductive system disease 9.7
1007 keratosis 9.7
1008 toxic megacolon 9.7
1009 calcinosis 9.7
1010 status epilepticus 9.7
1011 dysostosis 9.7
1012 trichomoniasis 9.7
1013 cerebral palsy 9.7
1014 hepatitis b 9.7
1015 autoimmune hepatitis 9.7
1016 thrombocytosis 9.7
1017 vulvovaginal candidiasis 9.7
1018 lateral sclerosis 9.7
1019 arteriosclerosis 9.7
1020 post-thrombotic syndrome 9.7
1021 neuroaxonal dystrophy 9.7
1022 central retinal vein occlusion 9.7
1023 basal cell carcinoma 9.7
1024 orchitis 9.7
1025 opiate dependence 9.7
1026 cervicitis 9.7
1027 cystadenoma 9.7
1028 auditory system disease 9.7
1029 glycogen storage disease 9.7
1030 contact dermatitis 9.7
1031 acalculous cholecystitis 9.7
1032 membranoproliferative glomerulonephritis 9.7
1033 cystic kidney disease 9.7
1034 primary hyperoxaluria 9.7
1035 food allergy 9.7
1036 astrocytoma 9.7
1037 early myoclonic encephalopathy 9.7
1038 cystic lymphangioma 9.7
1039 cystadenocarcinoma 9.7
1040 neurilemmoma 9.7
1041 teratoma 9.7
1042 embryonal carcinoma 9.7
1043 bipolar disorder 9.7
1044 gm1 gangliosidosis 9.7
1045 bone inflammation disease 9.7
1046 bacterial vaginosis 9.7
1047 inappropriate adh syndrome 9.7
1048 mammary paget's disease 9.7
1049 skin carcinoma 9.7
1050 breast adenocarcinoma 9.7
1051 cellulitis 9.7
1052 mixed connective tissue disease 9.7
1053 mucinous cystadenocarcinoma 9.7
1054 cervical adenocarcinoma 9.7
1055 protein c deficiency 9.7
1056 granuloma annulare 9.7
1057 porokeratosis 9.7
1058 lynch syndrome 9.7
1059 thyroid gland papillary carcinoma 9.7
1060 multidrug-resistant tuberculosis 9.7
1061 syphilis 9.7
1062 hypertrichosis 9.7
1063 spindle cell sarcoma 9.7
1064 granulomatous dermatitis 9.7
1065 pustulosis of palm and sole 9.7
1066 folliculitis 9.7
1067 holoprosencephaly 9.7
1068 familial retinoblastoma 9.7
1069 immune-complex glomerulonephritis 9.7
1070 movement disease 9.7
1071 benign ependymoma 9.7
1072 adenocarcinoma in situ 9.7
1073 adjustment disorder 9.7
1074 ovarian cyst 9.7
1075 arteriolosclerosis 9.7
1076 pituitary gland disease 9.7
1077 cellular ependymoma 9.7
1078 adenosine deaminase deficiency 9.7
1079 silent myocardial infarction 9.7
1080 eosinophilic pneumonia 9.7
1081 lymphopenia 9.7
1082 reactive arthritis 9.7
1083 thyroid hyalinizing trabecular adenoma 9.7
1084 complement deficiency 9.7
1085 fibromyalgia 9.7
1086 spinal stenosis 9.7
1087 pancreatic mucinous cystadenoma 9.7
1088 active peptic ulcer disease 9.7
1089 myocarditis 9.7
1090 chronic rhinitis 9.7
1091 corneal ulcer 9.7
1092 herpes zoster 9.7
1093 chronic fatigue syndrome 9.7
1094 malignant hyperthermia 9.7
1095 nervous system disease 9.7
1096 perinatal necrotizing enterocolitis 9.7
1097 pyomyositis 9.7
1098 psoriasis 9.7
1099 narcolepsy 9.7
1100 cervix uteri carcinoma in situ 9.7
1101 eczema herpeticum 9.7
1102 achalasia 9.7
1103 periodic limb movement disorder 9.7
1104 central sleep apnea 9.7
1105 priapism 9.7
1106 cleft lip 9.7
1107 iridocyclitis 9.7
1108 croup 9.7
1109 hypopituitarism 9.7
1110 diabetes insipidus 9.7
1111 meningitis 9.7
1112 ethmoid sinusitis 9.7
1113 irritable bowel syndrome 9.7
1114 intestinal disaccharidase deficiency 9.7
1115 hypoplastic left heart syndrome 9.7
1116 carotenemia 9.7
1117 muscular dystrophy, duchenne and becker type 9.7
1118 atp8b1 deficiency 9.7
1119 c3 glomerulopathy 9.7
1120 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 9.7
1121 congenital disorders of n-linked glycosylation and multiple pathway 9.7
1122 medium-chain acyl-coenzyme a dehydrogenase deficiency 9.7
1123 prss1-related hereditary pancreatitis 9.7
1124 tardbp-related amyotrophic lateral sclerosis 9.7
1125 y chromosome infertility 9.7
1126 47, xxy 9.7
1127 abdominal cystic lymphangioma 9.7
1128 acardia 9.7
1129 biliary tract cancer 9.7
1130 bowen's disease 9.7
1131 cerebrospinal fluid leak 9.7
1132 cervical intraepithelial neoplasia 9.7
1133 chiari malformation 9.7
1134 congenital cytomegalovirus 9.7
1135 cough headache 9.7
1136 distal renal tubular acidosis 9.7
1137 fasting hypoglycemia 9.7
1138 fibromatosis 9.7
1139 gangliosidosis 9.7
1140 glioma 9.7
1141 granulocytopenia 9.7
1142 hansen's disease 9.7
1143 laryngeal cleft 9.7
1144 monogenic diabetes 9.7
1145 mycobacterium xenopi 9.7
1146 neonatal adrenoleukodystrophy 9.7
1147 pituitary stalk interruption syndrome 9.7
1148 precocious puberty 9.7
1149 ring chromosome 2 9.7
1150 secondary adrenal insufficiency 9.7
1151 single ventricular heart 9.7
1152 stevens-johnson syndrome/toxic epidermal necrolysis 9.7
1153 tracheobronchomalacia 9.7
1154 transverse myelitis 9.7
1155 abdominal wall defect 9.7
1156 sporadic hemiplegic migraine 9.7
1157 aneurysm 9.7
1158 cerebral aneurysms 9.7
1159 cerebral hypoxia 9.7
1160 extrapontine myelinolysis 9.7
1161 hereditary neuropathies 9.7
1162 spinal cord injury 9.7
1163 syncope 9.7
1164 posttransplant acute limbic encephalitis 9.7
1165 cleft lip/palate 9.7
1166 monosomy 21 9.7
1167 glial tumor 9.7
1168 adrenogenital syndrome 9.7
1169 inflammatory myopathy with abundant macrophages 9.7
1170 viral myositis 9.7
1171 rare lymphatic malformation 9.7
1172 rare hereditary hemochromatosis 9.7
1173 virus-associated trichodysplasia spinulosa 9.7
1174 voriconazole toxicity 9.7
1175 fixed drug eruption 9.7
1176 paracetamol poisoning 9.7
1177 secondary vasculitis 9.7
1178 secondary sclerosing cholangitis 9.7
1179 mucinous cystadenocarcinoma of the pancreas 9.7
1180 premature aging 9.7
1181 solar urticaria 9.7
1182 thrombotic microangiopathy 9.7
1183 alobar holoprosencephaly 9.7
1184 vitreoretinopathy 9.7
1185 precursor t-cell acute lymphoblastic leukemia 9.7

Graphical network of the top 20 diseases related to Cystic Fibrosis:



Diseases related to Cystic Fibrosis

Symptoms & Phenotypes for Cystic Fibrosis

Human phenotypes related to Cystic Fibrosis:

58 31 (showing 21, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
2 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
3 pulmonary fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002206
4 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
5 biliary cirrhosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002613
6 exocrine pancreatic insufficiency 58 31 frequent (33%) Very frequent (99-80%) HP:0001738
7 decreased antibody level in blood 58 31 hallmark (90%) Very frequent (99-80%) HP:0004313
8 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
9 dehydration 31 occasional (7.5%) HP:0001944
10 failure to thrive 31 HP:0001508
11 hypercalciuria 31 HP:0002150
12 asthma 31 HP:0002099
13 recurrent pneumonia 31 HP:0006532
14 rectal prolapse 31 HP:0002035
15 male infertility 31 HP:0003251
16 bronchiectasis 31 HP:0002110
17 chronic lung disease 31 HP:0006528
18 recurrent bronchopulmonary infections 31 HP:0006538
19 cor pulmonale 31 HP:0001648
20 elevated sweat chloride 31 HP:0012236
21 meconium ileus 31 HP:0004401

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Laboratory Abnormalities:
hypercalciuria
high sweat sodium and chloride
hyponatremic dehydration, rarely
abnormal nasal potential differences
high newborn serum levels of immunoreactive trypsinogen

Abdomen Gastrointestinal:
rectal prolapse
meconium ileus in neonates (10-15%)
distal intestinal obstruction syndrome
adenocarcinoma of the ileum

Abdomen Pancreas:
pancreatic insufficiency in 80%

Genitourinary Internal Genitalia Female:
female decreased fertility due to thickened cervical secretions and chronic lung disease

Abdomen Biliary Tract:
biliary cirrhosis

Respiratory Airways:
asthma
bronchiectasis
pulmonary blebs
chronic bronchopulmonary infection
pseudomonas colonization

Cardiovascular Heart:
cor pulmonale

Genitourinary Internal Genitalia Male:
male infertility (98%) due to congenital bilateral absence of the vas deferens (cbavd)

Clinical features from OMIM:

219700

UMLS symptoms related to Cystic Fibrosis:


hemoptysis, snoring, coughing

Drugs & Therapeutics for Cystic Fibrosis

PubMed Health treatment related to Cystic Fibrosis: 62

Cystic fibrosis (CF) has no cure. However, treatments have greatly improved in recent years. The goals of CF treatment include: Preventing and controlling lung infections Loosening and removing thick, sticky mucus from the lungs Preventing or treating blockages in the intestines Providing enough nutrition Preventing dehydration (a lack of fluid in the body) Depending on the severity of CF, you or your child may be treated in a hospital.

Drugs for Cystic Fibrosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 544, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clarithromycin Approved Phase 4 81103-11-9 84029
2
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
3
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
4
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
5
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
6
Methadone Approved Phase 4 76-99-3 4095
7
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
8
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
9
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
10
Meropenem Approved, Investigational Phase 4 119478-56-7, 96036-03-2 441130 64778
11
Insulin glargine Approved Phase 4 160337-95-1
12
Avibactam Approved Phase 4 1192500-31-4
13
Fosfomycin Approved Phase 4 23155-02-4 446987
14
Altretamine Approved Phase 4 645-05-6 2123
15
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
16
Tedizolid Approved, Investigational Phase 4 856866-72-3
17
Tedizolid phosphate Approved Phase 4 856867-55-5
18
Telavancin Approved Phase 4 372151-71-8
19
Theophylline Approved Phase 4 58-55-9 2153
20
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
21
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
22
Tamoxifen Approved Phase 4 10540-29-1 2733526
23
Sage Approved Phase 4
24
Atorvastatin Approved Phase 4 134523-00-5 60823
25
Colistin Approved Phase 4 1264-72-8, 1066-17-7 5311054
26
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3
27
Ivacaftor Approved Phase 4 873054-44-5 16220172
28
Denosumab Approved Phase 4 615258-40-7
29
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
30
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
31
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
32
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
33
Ceftazidime Approved Phase 4 78439-06-2, 72558-82-8 5481173
34
Omalizumab Approved, Investigational Phase 4 242138-07-4
35
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
36
Tazobactam Approved Phase 4 89786-04-9 123630
37
Piperacillin Approved Phase 4 66258-76-2 43672
38
Mycophenolic acid Approved Phase 4 24280-93-1 446541
39
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
40
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
41
Memantine Approved, Investigational Phase 4 19982-08-2 4054
42
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
43
Histamine Approved, Investigational Phase 4 51-45-6 774
44
Cyproheptadine Approved Phase 4 129-03-3 2913