CF
MCID: CYS001
MIFTS: 81

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
NCIt 49 C2975
SNOMED-CT 67 190905008
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 Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. The drugs Clarithromycin and Lansoprazole 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 A syndrome 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 1199, show less)
# Related Disease Score Top Affiliating Genes
1 cystic fibrosis and congenital absence of the vas deferens 34.9 TGFB1 FCGR2A CFTR
2 bronchiectasis with or without elevated sweat chloride 1 34.7 LOC111674472 CFTR-AS1 CFTR
3 bronchiectasis 33.9 SERPINA1 SCNN1A MBL2 CFTR
4 mycobacterium abscessus 33.6 SERPINA1 CFTR
5 lung disease 33.4 TGFB1 SERPINA1 S100A9 S100A8 MBL2 CFTR
6 meconium ileus 33.4 CLCA1 CFTR
7 bacterial infectious disease 32.5 MBL2 FCGR2A DEFB1 CFTR
8 pulmonary disease, chronic obstructive 32.4 TGFB1 SERPINA1 EPHX1 DEFB1 CLCA1 CFTR
9 bronchitis 32.4 SERPINA1 EPHX1 DNASE1 CFTR
10 idiopathic bronchiectasis 31.5 SCNN1A CFTR
11 laryngitis 30.7 TGFB1 DNASE1
12 anthracosis 30.4 TGFB1 EPHX1
13 cystic fibrosis, modifier of, 1 12.7
14 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 12.5
15 bronchiectasis with or without elevated sweat chloride 2 12.2
16 myalgic encephalomyelitis/chronic fatigue syndrome 12.2
17 bronchiectasis with or without elevated sweat chloride 3 12.2
18 vas deferens, congenital bilateral aplasia of 12.0
19 allergic bronchopulmonary aspergillosis 11.8
20 fibrosis of extraocular muscles, congenital, 1 11.7
21 aspergillosis 11.7
22 respiratory failure 11.7
23 aquagenic syringeal acrokeratoderma 11.7
24 exocrine pancreatic insufficiency 11.6
25 pancreatitis 11.6
26 keratomalacia 11.6
27 lubani-al saleh-teebi syndrome 11.6
28 panbronchiolitis, diffuse 11.5
29 shwachman-diamond syndrome 1 11.5
30 cramp-fasciculation syndrome 11.5
31 young syndrome 11.5
32 nontuberculous mycobacterial lung disease 11.5
33 pseudohypoaldosteronism, type i, autosomal recessive 11.5
34 middle lobe syndrome 11.5
35 hyperchlorhidrosis, isolated 11.2
36 bile acid synthesis defect, congenital, 2 11.2
37 bartter syndrome, type 3 11.2
38 bile acid synthesis defect, congenital, 1 11.2
39 mycobacterium avium complex infections 11.2
40 ileus 11.0
41 autosomal recessive disease 11.0
42 pancreatic ductal adenocarcinoma 11.0
43 liver disease 10.9
44 stenotrophomonas maltophilia infection 10.8
45 haemophilus influenzae 10.8
46 intestinal obstruction 10.8
47 miliaria rubra 10.8 SCNN1A CFTR
48 miliaria 10.8 SCNN1A CFTR
49 portal hypertension 10.8
50 pneumothorax 10.7
51 byssinosis 10.7 SERPINA1 EPHX1
52 hereditary angioedema 10.7 SERPINA1 PLG MBL2
53 cardiac rupture 10.7 S100A9 S100A8
54 neisseria meningitidis infection 10.7 MBL2 FCGR2A
55 congenital granular cell tumor 10.7 SERPINA1 S100A9
56 proteasome-associated autoinflammatory syndrome 1 10.7
57 glucose intolerance 10.7
58 bronchiolitis 10.7
59 infertility 10.7
60 fibromuscular dysplasia 10.7 TGFB1 SERPINA1
61 diabetes mellitus 10.7
62 bone disease 10.6
63 male infertility 10.6
64 osteonecrosis of the jaw 10.6 TGFB1 DEFB1
65 bronchiolitis obliterans 10.6
66 alcoholic hepatitis 10.6
67 chromophobe renal cell carcinoma 10.6
68 renal oncocytoma 10.6
69 gastroesophageal reflux 10.6
70 pulmonary hypertension 10.6
71 azoospermia 10.6
72 rickets 10.6
73 hereditary angioedema with normal c1inh 10.6 SERPINA1 PLG
74 primary ciliary dyskinesia 10.6
75 body mass index quantitative trait locus 1 10.6
76 liver cirrhosis 10.6
77 adult xanthogranuloma 10.6 SERPINA1 S100A9
78 cholestasis 10.6
79 diarrhea 10.6
80 constipation 10.6
81 overgrowth syndrome 10.6
82 acute pancreatitis 10.6
83 hyperglycemia 10.5
84 ige responsiveness, atopic 10.5
85 intussusception 10.5
86 arthropathy 10.5
87 hypoglycemia 10.5
88 exanthem 10.5
89 allergic hypersensitivity disease 10.5
90 celiac disease 1 10.5
91 bone mineral density quantitative trait locus 3 10.5
92 cholelithiasis 10.5
93 pneumonia 10.5
94 amyloidosis 10.5
95 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.5
96 osteoporosis 10.5
97 bone mineral density quantitative trait locus 8 10.5
98 bone mineral density quantitative trait locus 15 10.5
99 cytokine deficiency 10.5
100 rhinitis 10.5
101 varicose veins 10.5
102 47,xyy 10.5
103 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
104 kidney disease 10.4
105 appendicitis 10.4
106 cholangitis 10.4
107 splenomegaly 10.4
108 hypereosinophilic syndrome 10.4
109 pulmonary fibrosis 10.4
110 influenza 10.4
111 bone resorption disease 10.4
112 intestinal disease 10.4
113 crohn's disease 10.4
114 iron metabolism disease 10.4
115 bartter disease 10.4
116 asthma 10.4
117 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.4
118 pancreatitis, hereditary 10.4
119 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
120 anxiety 10.4
121 vitamin k deficiency bleeding 10.4
122 sickle cell disease 10.4
123 colorectal cancer 10.4
124 pelvic organ prolapse 10.4
125 deficiency anemia 10.4
126 cholera 10.4
127 48,xyyy 10.4
128 gallbladder disease 1 10.4
129 peritonitis 10.4
130 pneumothorax, primary spontaneous 10.3
131 thrombophilia due to thrombin defect 10.3
132 pancreatic cancer 10.3
133 pleural empyema 10.3
134 hypokalemia 10.3
135 nephrolithiasis 10.3
136 phenylketonuria 10.3
137 sclerosing cholangitis 10.3
138 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.3
139 allergic rhinitis 10.3
140 bronchopneumonia 10.3
141 chromosomal triplication 10.3
142 pancreatic agenesis 1 10.3
143 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
144 polycystic kidney disease 10.3
145 hypothyroidism 10.3
146 acute kidney failure 10.3
147 pik3ca-related overgrowth syndrome 10.3
148 otitis media 10.3
149 down syndrome 10.3
150 volvulus of midgut 10.3
151 sleep apnea 10.3
152 pertussis 10.3
153 esophageal varix 10.3
154 dermatitis 10.3
155 adenocarcinoma 10.3
156 pancreatic adenocarcinoma 10.3
157 vasculitis 10.3
158 insulin-like growth factor i 10.3
159 alpha-1-antitrypsin deficiency 10.3
160 secretory diarrhea 10.3
161 colitis 10.3
162 disease of mental health 10.3
163 dental caries 10.3
164 triiodothyronine receptor auxiliary protein 10.3
165 fatty liver disease, nonalcoholic 1 10.3
166 invasive aspergillosis 10.3
167 gallbladder disease 10.3
168 hypersplenism 10.3
169 muscular atrophy 10.3
170 encephalopathy, familial, with neuroserpin inclusion bodies 10.2 SERPINA1 PLG
171 sarcoidosis 1 10.2
172 inflammatory bowel disease 10.2
173 gestational diabetes 10.2
174 protein-energy malnutrition 10.2
175 nephrocalcinosis 10.2
176 agammaglobulinemia 10.2
177 muscular dystrophy 10.2
178 neutrophil migration 10.2
179 acrodermatitis enteropathica, zinc-deficiency type 10.2
180 cholangitis, primary sclerosing 10.2
181 complement factor b deficiency 10.2
182 clostridium difficile colitis 10.2
183 acrodermatitis 10.2
184 chronic kidney disease 10.2
185 allergic asthma 10.2
186 enteropathica 10.2
187 pulmonary fibrosis, idiopathic 10.2
188 yemenite deaf-blind hypopigmentation syndrome 10.2
189 drug allergy 10.2
190 urolithiasis 10.2
191 sensorineural hearing loss 10.2
192 nephrotic syndrome 10.2
193 keratoconjunctivitis sicca 10.2
194 hyperparathyroidism 10.2
195 biliary atresia 10.2
196 cholecystitis 10.2
197 arthritis 10.2
198 eating disorder 10.2
199 orthostatic intolerance 10.2
200 polycystic kidney disease 1 with or without polycystic liver disease 10.2
201 diabetes mellitus, type i 10.2
202 resting heart rate, variation in 10.2
203 melioidosis 10.2
204 scoliosis 10.2
205 hypogonadism 10.2
206 interstitial lung disease 10.2
207 night blindness 10.2
208 depression 10.2
209 hypoxia 10.2
210 thrombosis 10.2
211 covid-19 10.2
212 xerophthalmia 10.2
213 secondary hyperparathyroidism 10.2
214 kwashiorkor 10.2
215 toxic shock syndrome 10.2
216 vascular disease 10.2
217 purpura 10.2
218 sleep disorder 10.2
219 cataract 10.2
220 autosomal dominant polycystic kidney disease 10.2
221 hypertriglyceridemia, familial 10.1
222 tay-sachs disease 10.1
223 muscular dystrophy, duchenne type 10.1
224 esophagitis 10.1
225 neutropenia 10.1
226 candidiasis 10.1
227 urticaria 10.1
228 pulmonary tuberculosis 10.1
229 peptic ulcer disease 10.1
230 headache 10.1
231 autoimmune disease 10.1
232 rheumatoid arthritis 10.1
233 hemochromatosis, type 1 10.1
234 immune deficiency disease 10.1
235 jejunal atresia 10.1
236 anorexia nervosa 10.1
237 microvascular complications of diabetes 3 10.1
238 microvascular complications of diabetes 4 10.1
239 microvascular complications of diabetes 6 10.1
240 microvascular complications of diabetes 7 10.1
241 helix syndrome 10.1
242 lung abscess 10.1
243 chlamydia 10.1
244 goiter 10.1
245 spinal muscular atrophy 10.1
246 respiratory syncytial virus infectious disease 10.1
247 pharyngitis 10.1
248 thrombophilia 10.1
249 pancreas disease 10.1
250 hemoglobinopathy 10.1
251 glomerulonephritis 10.1
252 gingivitis 10.1
253 lipomatosis 10.1
254 hemolytic anemia 10.1
255 chickenpox 10.1
256 bacterial pneumonia 10.1
257 fatty liver disease 10.1
258 pulmonary embolism 10.1
259 mycobacterium chelonae 10.1
260 neural tube defects 10.1
261 body mass index quantitative trait locus 11 10.1
262 fragile x syndrome 10.1
263 ataxia and polyneuropathy, adult-onset 10.1
264 body mass index quantitative trait locus 9 10.1
265 body mass index quantitative trait locus 8 10.1
266 body mass index quantitative trait locus 4 10.1
267 body mass index quantitative trait locus 10 10.1
268 body mass index quantitative trait locus 7 10.1
269 body mass index quantitative trait locus 12 10.1
270 body mass index quantitative trait locus 14 10.1
271 mannose-binding lectin deficiency 10.1
272 body mass index quantitative trait locus 18 10.1
273 leukemia, acute lymphoblastic 3 10.1
274 cholangiocarcinoma 10.1
275 body mass index quantitative trait locus 19 10.1
276 body mass index quantitative trait locus 20 10.1
277 crohn's colitis 10.1
278 respiratory allergy 10.1
279 thalassemia 10.1
280 osteomalacia 10.1
281 pancreatic steatorrhea 10.1
282 tetanus 10.1
283 typhoid fever 10.1
284 paranasal sinus disease 10.1
285 patent foramen ovale 10.1
286 pleural disease 10.1
287 duodenal ulcer 10.1
288 lipid metabolism disorder 10.1
289 palmoplantar keratosis 10.1
290 glucose metabolism disease 10.1
291 intrahepatic cholangiocarcinoma 10.1
292 colonic disease 10.1
293 severe combined immunodeficiency 10.1
294 end stage renal disease 10.1
295 neuropathy 10.1
296 neurofibromatosis 10.1
297 keratoconjunctivitis 10.1
298 hemophilia 10.1
299 bronchopulmonary dysplasia 10.1
300 back pain 10.1
301 rapidly involuting congenital hemangioma 10.1
302 argyria 10.1
303 atrial standstill 1 10.0
304 attention deficit-hyperactivity disorder 10.0
305 hutterite cerebroosteonephrodysplasia syndrome 10.0
306 chylomicron retention disease 10.0
307 ocular motor apraxia 10.0
308 sickle cell anemia 10.0
309 microvascular complications of diabetes 5 10.0
310 cyanosis, transient neonatal 10.0
311 barrett esophagus 10.0
312 congenital chloride diarrhea 10.0
313 congenital hypothyroidism 10.0
314 tracheomalacia 10.0
315 dry eye syndrome 10.0
316 common cold 10.0
317 intestinal atresia 10.0
318 giardiasis 10.0
319 adult respiratory distress syndrome 10.0
320 pulmonary edema 10.0
321 patau syndrome 10.0
322 iron deficiency anemia 10.0
323 bronchial disease 10.0
324 optic neuritis 10.0
325 pulmonary sarcoidosis 10.0
326 obstructive jaundice 10.0
327 pericarditis 10.0
328 neuritis 10.0
329 impotence 10.0
330 gaucher's disease 10.0
331 hyperinsulinism 10.0
332 gastroenteritis 10.0
333 iga glomerulonephritis 10.0
334 chronic granulomatous disease 10.0
335 pseudohypoaldosteronism 10.0
336 middle ear disease 10.0
337 congestive heart failure 10.0
338 adenoma 10.0
339 neuroblastoma 10.0
340 gastrointestinal system disease 10.0
341 ulcerative colitis 10.0
342 stomatitis 10.0
343 post-transplant lymphoproliferative disease 10.0
344 anoxia 10.0
345 cytomegalovirus infection 10.0
346 scedosporiosis 10.0
347 ornithosis 10.0
348 encephalitis 10.0
349 neurofibromatosis, type ii 10.0
350 alcohol dependence 10.0
351 apnea, obstructive sleep 10.0
352 esophageal cancer 10.0
353 hair whorl 10.0
354 keratitis, hereditary 10.0
355 nephrolithiasis, calcium oxalate 10.0
356 pulmonary hypertension, primary, 1 10.0
357 lipoid congenital adrenal hyperplasia 10.0
358 ataxia-telangiectasia 10.0
359 galactosemia i 10.0
360 gaucher disease, type i 10.0
361 hypervitaminosis a 10.0
362 ciliary dyskinesia, primary, 1 10.0
363 taqi polymorphism 10.0
364 acute insulin response 10.0
365 branchiootic syndrome 1 10.0
366 cervical cancer 10.0
367 myocardial infarction 10.0
368 mucopolysaccharidosis-plus syndrome 10.0
369 cardiac arrest 10.0
370 inguinal hernia 10.0
371 lymphoproliferative syndrome 10.0
372 oligoasthenoteratozoospermia 10.0
373 physical disorder 10.0
374 short bowel syndrome 10.0
375 megacolon 10.0
376 gastroparesis 10.0
377 hemosiderosis 10.0
378 plica syndrome 10.0
379 primary biliary cirrhosis 10.0
380 leukemia 10.0
381 hepatitis a 10.0
382 hyperinsulinemic hypoglycemia 10.0
383 squamous cell papilloma 10.0
384 fungal infectious disease 10.0
385 alcohol use disorder 10.0
386 hepatitis c 10.0
387 maxillary sinusitis 10.0
388 nocardiosis 10.0
389 neonatal jaundice 10.0
390 papilloma 10.0
391 synovitis 10.0
392 bilirubin metabolic disorder 10.0
393 testicular cancer 10.0
394 vaccinia 10.0
395 skin disease 10.0
396 thrombophlebitis 10.0
397 gastritis 10.0
398 bile duct disease 10.0
399 peripheral nervous system disease 10.0
400 inherited metabolic disorder 10.0
401 juvenile rheumatoid arthritis 10.0
402 choline deficiency disease 10.0
403 duodenitis 10.0
404 intracranial hypertension 10.0
405 biliary tract disease 10.0
406 amyloidosis aa 10.0
407 mycobacterium kansasii 10.0
408 autonomic dysfunction 10.0
409 encephalopathy 10.0
410 postural orthostatic tachycardia syndrome 10.0
411 glioblastoma multiforme 10.0
412 fibrosarcoma 10.0
413 esophagus squamous cell carcinoma 10.0
414 pure autonomic failure 10.0
415 atherosclerosis susceptibility 9.9
416 hepatocellular carcinoma 9.9
417 hypercholesterolemia, familial, 1 9.9
418 migraine with or without aura 1 9.9
419 myositis 9.9
420 polykaryocytosis inducer 9.9
421 silver-russell syndrome 1 9.9
422 syringomyelia, noncommunicating isolated 9.9
423 thrombophilia due to activated protein c resistance 9.9
424 enterocolitis 9.9
425 intracranial hypertension, idiopathic 9.9
426 wilson disease 9.9
427 properdin deficiency, x-linked 9.9
428 creatinine clearance quantitative trait locus 9.9
429 mycobacterium tuberculosis 1 9.9
430 leukemia, acute lymphoblastic 9.9
431 bile acid malabsorption, primary 9.9
432 retinitis pigmentosa 73 9.9
433 mulchandani-bhoj-conlin syndrome 9.9
434 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.9
435 juvenile arthritis 9.9
436 pulmonary aspergilloma 9.9
437 hypophosphatemia 9.9
438 autosomal recessive cerebellar ataxia 9.9
439 non-alcoholic fatty liver disease 9.9
440 hypogonadotropic hypogonadism 9.9
441 pre-eclampsia 9.9
442 cystinosis 9.9
443 hydrocephalus 9.9
444 heart disease 9.9
445 polycystic ovary syndrome 9.9
446 prediabetes syndrome 9.9
447 acute leukemia 9.9
448 telangiectasis 9.9
449 acute cystitis 9.9
450 amenorrhea 9.9
451 oligospermia 9.9
452 papilledema 9.9
453 thrombocytopenia 9.9
454 cystitis 9.9
455 retinal vein occlusion 9.9
456 factitious disorder 9.9
457 optic nerve disease 9.9
458 hyperuricemia 9.9
459 endometriosis 9.9
460 severe acute respiratory syndrome 9.9
461 syringomyelia 9.9
462 bone inflammation disease 9.9
463 myopathy 9.9
464 neuromuscular disease 9.9
465 neurotic disorder 9.9
466 alcoholic pancreatitis 9.9
467 eosinophilic pneumonia 9.9
468 conjunctivitis 9.9
469 connective tissue disease 9.9
470 measles 9.9
471 myeloid leukemia 9.9
472 gas gangrene 9.9
473 status asthmaticus 9.9
474 exophthalmos 9.9
475 blepharitis 9.9
476 myotonic dystrophy 9.9
477 diencephalic syndrome 9.9
478 dwarfism 9.9
479 growth hormone deficiency 9.9
480 mycetoma 9.9
481 partial deletion of y 9.9
482 chronic pain 9.9
483 dysphagia 9.9
484 hypotonia 9.9
485 paresthesia 9.9
486 spinocerebellar degeneration 9.9
487 plastic bronchitis 9.9
488 coxa vara 9.9
489 spondyloepimetaphyseal dysplasia, strudwick type 9.9
490 spondylometaphyseal dysplasia, corner fracture type 9.9
491 fanconi anemia, complementation group d2 9.9
492 fanconi anemia, complementation group a 9.9
493 human immunodeficiency virus type 1 9.9
494 coenzyme q10 deficiency disease 9.9
495 gastric adenocarcinoma 9.9
496 lassa fever 9.9
497 babesiosis 9.9
498 ciguatera fish poisoning 9.9
499 disseminated infection with mycobacterium avium complex 9.9
500 tangier disease 9.8
501 cystinuria 9.8
502 wiskott-aldrich syndrome 9.8
503 aplastic anemia 9.8
504 premature ovarian failure 7 9.8
505 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
506 carbonic anhydrase va deficiency, hyperammonemia due to 9.8
507 ophthalmomyiasis 9.8
508 chronic maxillary sinusitis 9.8
509 myiasis 9.8
510 hypoparathyroidism 9.8
511 pneumatosis cystoides intestinalis 9.8
512 enthesopathy 9.8
513 thyroid gland disease 9.8
514 hemoglobin d disease 9.8
515 albinism 9.8
516 rare cardiomyopathy 9.8
517 undetermined colitis 9.8
518 breast cancer 9.8
519 cardiac arrhythmia 9.8
520 leukocyte adhesion deficiency, type i 9.8
521 diabetes mellitus, noninsulin-dependent 9.8
522 immunoglobulin a deficiency 1 9.8
523 huntington disease 9.8
524 hypertelorism 9.8
525 hypertension, essential 9.8
526 systemic lupus erythematosus 9.8
527 obsessive-compulsive disorder 9.8
528 polycystic liver disease 1 with or without kidney cysts 9.8
529 tracheoesophageal fistula with or without esophageal atresia 9.8
530 renal hypodysplasia/aplasia 1 9.8
531 autism 9.8
532 bronchomalacia 9.8
533 diarrhea 1, secretory chloride, congenital 9.8
534 diastrophic dysplasia 9.8
535 factor vii deficiency 9.8
536 lymphoma, hodgkin, classic 9.8
537 maple syrup urine disease 9.8
538 methane production 9.8
539 mucus inspissation of respiratory tract 9.8
540 myasthenia gravis 9.8
541 3-methylglutaconic aciduria, type iii 9.8
542 osteogenic sarcoma 9.8
543 periodontitis, chronic 9.8
544 retinitis pigmentosa 9.8
545 pendred syndrome 9.8
546 muscular dystrophy, becker type 9.8
547 helicobacter pylori infection 9.8
548 stroke, ischemic 9.8
549 agammaglobulinemia 1, autosomal recessive 9.8
550 macular degeneration, age-related, 1 9.8
551 homocysteinemia 9.8
552 legionnaire disease 9.8
553 diabetes mellitus, ketosis-prone 9.8
554 lung cancer susceptibility 3 9.8
555 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 9.8
556 beta-thalassemia 9.8
557 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.8
558 chlamydia pneumonia 9.8
559 keshan disease 9.8
560 kartagener syndrome 9.8
561 metabolic acidosis 9.8
562 secondary progressive multiple sclerosis 9.8
563 endocervical adenocarcinoma 9.8
564 immunoglobulin alpha deficiency 9.8
565 sexual disorder 9.8
566 lymphoma 9.8
567 mastoiditis 9.8
568 ectopic pregnancy 9.8
569 pollen allergy 9.8
570 penicillin allergy 9.8
571 progressive familial intrahepatic cholestasis 9.8
572 bronchiectasis 2 9.8
573 middle east respiratory syndrome 9.8
574 pelvic inflammatory disease 9.8
575 neuroretinitis 9.8
576 osteomyelitis 9.8
577 hypopyon 9.8
578 esophageal atresia 9.8
579 thrombotic thrombocytopenic purpura 9.8
580 diphtheria 9.8
581 visual epilepsy 9.8
582 conn's syndrome 9.8
583 inflammatory spondylopathy 9.8
584 marasmus 9.8
585 pancytopenia 9.8
586 acute kidney tubular necrosis 9.8
587 quadriplegia 9.8
588 uveitis 9.8
589 polyneuropathy 9.8
590 facial paralysis 9.8
591 peptic esophagitis 9.8
592 alcoholic liver cirrhosis 9.8
593 phaeohyphomycosis 9.8
594 renal tubular acidosis 9.8
595 gonadal dysgenesis 9.8
596 acute chest syndrome 9.8
597 mental depression 9.8
598 viral hepatitis 9.8
599 intestinal perforation 9.8
600 ectodermal dysplasia 9.8
601 protein s deficiency 9.8
602 substance abuse 9.8
603 lysosomal storage disease 9.8
604 myelitis 9.8
605 tracheal stenosis 9.8
606 mood disorder 9.8
607 skin carcinoma 9.8
608 plague 9.8
609 turner syndrome 9.8
610 duodenal obstruction 9.8
611 choriocarcinoma 9.8
612 retinitis 9.8
613 aortic aneurysm 9.8
614 lactic acidosis 9.8
615 duodenogastric reflux 9.8
616 tricuspid valve insufficiency 9.8
617 common bile duct disease 9.8
618 macular retinal edema 9.8
619 endophthalmitis 9.8
620 poliomyelitis 9.8
621 nutritional deficiency disease 9.8
622 eye disease 9.8
623 acquired immunodeficiency syndrome 9.8
624 spondylitis 9.8
625 hepatoblastoma 9.8
626 b-cell lymphoma 9.8
627 diverticulitis 9.8
628 situs inversus 9.8
629 placenta disease 9.8
630 hyperthyroidism 9.8
631 mediastinitis 9.8
632 periodontitis 9.8
633 extrinsic allergic alveolitis 9.8
634 polycythemia 9.8
635 herpes simplex 9.8
636 in situ carcinoma 9.8
637 rubella 9.8
638 chorioretinitis 9.8
639 hepatopulmonary syndrome 9.8
640 pulmonary eosinophilia 9.8
641 pulmonary emphysema 9.8
642 alopecia 9.8
643 hydrocele 9.8
644 periostitis 9.8
645 hypervitaminosis d 9.8
646 aminoaciduria 9.8
647 brittle diabetes 9.8
648 candida glabrata 9.8
649 macrophage activation syndrome 9.8
650 mycobacterium fortuitum 9.8
651 mycobacterium gordonae 9.8
652 nodular regenerative hyperplasia 9.8
653 periodontal ehlers-danlos syndrome 9.8
654 primary agammaglobulinemia 9.8
655 radiation induced cancer 9.8
656 surfactant dysfunction 9.8
657 seizure disorder 9.8
658 tremor 9.8
659 uniparental disomy of chromosome 7 9.8
660 familial intrahepatic cholestasis 9.8
661 bronchiolitis obliterans with obstructive pulmonary disease 9.8
662 hepatoportal sclerosis 9.8
663 acrokeratoderma 9.8
664 maternal uniparental disomy 9.8
665 male infertility due to obstructive azoospermia 9.8
666 thyroid carcinoma 9.8
667 creutzfeldt-jakob disease 9.7
668 exostoses, multiple, type ii 9.7
669 renal cell carcinoma, nonpapillary 9.7
670 papillomatosis, confluent and reticulated 9.7
671 pheochromocytoma 9.7
672 wilms tumor 1 9.7
673 tardive dyskinesia 9.7
674 squamous cell carcinoma, head and neck 9.7
675 arts syndrome 9.7
676 wilms tumor 5 9.7
677 chudley-mccullough syndrome 9.7
678 kala-azar 1 9.7
679 intraocular pressure quantitative trait locus 9.7
680 pulmonary hypertension, primary, 2 9.7
681 immunodeficiency 16 9.7
682 tick-borne encephalitis 9.7
683 anaplastic large cell lymphoma 9.7
684 mantle cell lymphoma 9.7
685 focal dystonia 9.7
686 adrenal gland pheochromocytoma 9.7
687 lung mucoepidermoid carcinoma 9.7
688 cutaneous t cell lymphoma 9.7
689 mucositis 9.7
690 alzheimer's disease 1 9.7
691 acquired von willebrand syndrome 9.7
692 pinta disease 9.7
693 cholesteatoma of middle ear 9.7
694 q fever 9.7
695 spotted fever 9.7
696 disseminated intravascular coagulation 9.7
697 social phobia 9.7
698 rabies 9.7
699 pyelonephritis 9.7
700 suppurative otitis media 9.7
701 familial hyperlipidemia 9.7
702 clubfoot 9.7
703 lymphocytic choriomeningitis 9.7
704 bell's palsy 9.7
705 paracoccidioidomycosis 9.7
706 migraine without aura 9.7
707 guillain-barre syndrome 9.7
708 dementia 9.7
709 familial hypercholesterolemia 9.7
710 benign paroxysmal positional nystagmus 9.7
711 avoidant personality disorder 9.7
712 personality disorder 9.7
713 endogenous depression 9.7
714 squamous cell carcinoma 9.7
715 tularemia 9.7
716 relapsing-remitting multiple sclerosis 9.7
717 hereditary spastic paraplegia 9.7
718 kidney cancer 9.7
719 benign mesothelioma 9.7
720 proctitis 9.7
721 fibrosarcoma of bone 9.7
722 histiocytosis 9.7
723 cervical squamous cell carcinoma 9.7
724 hermaphroditism 9.7
725 mucoepidermoid carcinoma 9.7
726 multiple chemical sensitivity 9.7
727 essential tremor 9.7
728 dystonia 9.7
729 anterolateral myocardial infarction 9.7
730 paraplegia 9.7
731 mite infestation 9.7
732 septic arthritis 9.7
733 osteoarthritis 9.7
734 congenital fibrosarcoma 9.7
735 pellagra 9.7
736 leishmaniasis 9.7
737 cutaneous leishmaniasis 9.7
738 herpes zoster oticus 9.7
739 acute myocardial infarction 9.7
740 toxoplasmosis 9.7
741 anaplastic oligoastrocytoma 9.7
742 aspergillus niger infection 9.7
743 chronic thromboembolic pulmonary hypertension 9.7
744 hyperacusis 9.7
745 myxozoa 9.7
746 ring chromosome 3 9.7
747 triploidy 9.7
748 trisomy 22 9.7
749 head injury 9.7
750 whiplash 9.7
751 supernumerary breasts 9.7
752 ciliopathy 9.7
753 aortic aneurysm, familial abdominal, 1 9.7
754 acrokeratoderma, hereditary papulotranslucent 9.7
755 acroosteolysis 9.7
756 amyotrophic lateral sclerosis 1 9.7
757 spondyloarthropathy 1 9.7
758 arteries, anomalies of 9.7
759 bladder cancer 9.7
760 cerebrocostomandibular syndrome 9.7
761 cleft palate, isolated 9.7
762 beckwith-wiedemann syndrome 9.7
763 erythroleukemia, familial 9.7
764 fucosidase regulator 9.7
765 diaphragmatic hernia, congenital 9.7
766 hernia, hiatus 9.7
767 gilbert syndrome 9.7
768 hypercalcemia, infantile, 1 9.7
769 immunoglobulin e concentration, serum 9.7
770 lacrimal duct defect 9.7
771 macroglossia 9.7
772 marfan syndrome 9.7
773 neurofibromatosis, type i 9.7
774 neuropathy, hereditary, with liability to pressure palsies 9.7
775 neutrophilia, hereditary 9.7
776 ovarian cancer 9.7
777 prolidase deficiency 9.7
778 pernicious anemia 9.7
779 liddle syndrome 1 9.7
780 pulmonary hemosiderosis 9.7
781 pyloric stenosis, infantile hypertrophic, 1 9.7
782 renal tubular acidosis, proximal 9.7
783 dowling-degos disease 1 9.7
784 retinoblastoma 9.7
785 robinow syndrome, autosomal dominant 1 9.7
786 scleroderma, familial progressive 9.7
787 small cell cancer of the lung 9.7
788 telecanthus 9.7
789 tetralogy of fallot 9.7
790 theophylline biotransformation 9.7
791 thrombocytopenic purpura, autoimmune 9.7
792 thyroid cancer, nonmedullary, 1 9.7
793 suppressor of tumorigenicity 3 9.7
794 vitiligo-associated multiple autoimmune disease susceptibility 6 9.7
795 von hippel-lindau syndrome 9.7
796 abetalipoproteinemia 9.7
797 acyl-coa dehydrogenase, medium-chain, deficiency of 9.7
798 anencephaly 9.7
799 anus, imperforate 9.7
800 ascites, chylous 9.7
801 cholestasis, progressive familial intrahepatic, 1 9.7
802 lung cancer 9.7
803 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7
804 apparent mineralocorticoid excess 9.7
805 cryptorchidism, unilateral or bilateral 9.7
806 cystathioninuria 9.7
807 duodenal atresia 9.7
808 schopf-schulz-passarge syndrome 9.7
809 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.7
810 enterokinase deficiency 9.7
811 galactosemia iii 9.7
812 gm1-gangliosidosis, type ii 9.7
813 gastroschisis 9.7
814 glycogen storage disease ii 9.7
815 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.7
816 leprosy 3 9.7
817 spinal muscular atrophy, type i 9.7
818 myeloma, multiple 9.7
819 niemann-pick disease, type c1 9.7
820 nonarteritic anterior ischemic optic neuropathy 9.7
821 subacute sclerosing panencephalitis 9.7
822 gitelman syndrome 9.7
823 pseudoxanthoma elasticum 9.7
824 sudden infant death syndrome 9.7
825 mayer-rokitansky-kuster-hauser syndrome 9.7
826 agammaglobulinemia, x-linked 9.7
827 barth syndrome 9.7
828 colonic atresia 9.7
829 hemophilia a 9.7
830 hemophilia b 9.7
831 myopathy, centronuclear, x-linked 9.7
832 otopalatodigital syndrome, type i 9.7
833 aging 9.7
834 neuronal intestinal dysplasia, type b 9.7
835 leukemia, acute myeloid 9.7
836 autoimmune lymphoproliferative syndrome 9.7
837 cholestasis, progressive familial intrahepatic, 3 9.7
838 bile duct cysts 9.7
839 astigmatism 9.7
840 dermatitis, atopic 9.7
841 brittle bone disorder 9.7
842 microvascular complications of diabetes 1 9.7
843 huntington disease-like 3 9.7
844 lymphoma, non-hodgkin, familial 9.7
845 tricuspid atresia 9.7
846 abdominal obesity-metabolic syndrome 1 9.7
847 maturity-onset diabetes of the young 9.7
848 huntington disease-like 2 9.7
849 vitiligo-associated multiple autoimmune disease susceptibility 1 9.7
850 lymphangioleiomyomatosis 9.7
851 spermatogenic failure 3 9.7
852 scheie syndrome 9.7
853 nasopharyngeal carcinoma 9.7
854 epileptic encephalopathy, early infantile, 6 9.7
855 epilepsy, partial, with pericentral spikes 9.7
856 bulimia nervosa 9.7
857 hypotrichosis-lymphedema-telangiectasia syndrome 9.7
858 hypertensive nephropathy 9.7
859 endometrial cancer 9.7
860 ovarian hyperstimulation syndrome 9.7
861 tropical calcific pancreatitis 9.7
862 systemic lupus erythematosus 4 9.7
863 inflammatory bowel disease 9 9.7
864 major depressive disorder 9.7
865 asthma-related traits 2 9.7
866 hepatitis c virus 9.7
867 esophagitis, eosinophilic, 1 9.7
868 testicular microlithiasis 9.7
869 preterm premature rupture of the membranes 9.7
870 chromosome 16p13.3 deletion syndrome, proximal 9.7
871 asthma-related traits 4 9.7
872 malaria 9.7
873 kawasaki disease 9.7
874 ciliary dyskinesia, primary, 8 9.7
875 major affective disorder 8 9.7
876 major affective disorder 9 9.7
877 acute promyelocytic leukemia 9.7
878 microvascular complications of diabetes 2 9.7
879 encephalocraniocutaneous lipomatosis 9.7
880 ectodermal dysplasia-syndactyly syndrome 2 9.7
881 gastric cancer 9.7
882 mammary-digital-nail syndrome 9.7
883 muscle hypertrophy 9.7
884 microcephaly, epilepsy, and diabetes syndrome 9.7
885 myelodysplastic syndrome 9.7
886 membranous nephropathy 9.7
887 immunodeficiency, common variable, 8, with autoimmunity 9.7
888 cfhr5 deficiency 9.7
889 leptin deficiency or dysfunction 9.7
890 riboflavin deficiency 9.7
891 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 9.7
892 hyperprolactinemia 9.7
893 pachyonychia congenita 3 9.7
894 encephalopathy, progressive, with or without lipodystrophy 9.7
895 acid-labile subunit deficiency 9.7
896 hydrops, lactic acidosis, and sideroblastic anemia 9.7
897 portal hypertension, noncirrhotic 9.7
898 hyperlipoproteinemia, type iii 9.7
899 trichohepatoneurodevelopmental syndrome 9.7
900 lipoprotein quantitative trait locus 9.7
901 chronic ulcer of skin 9.7
902 tendinopathy 9.7
903 tendinitis 9.7
904 carbapenem allergy 9.7
905 streptococcus pneumonia 9.7
906 bacterial sepsis 9.7
907 autoimmune pancreatitis 9.7
908 osmotic diarrhea 9.7
909 acute diarrhea 9.7
910 aspiration pneumonia 9.7
911 cryptogenic organizing pneumonia 9.7
912 restless legs syndrome 9.7
913 exudative vitreoretinopathy 9.7
914 vitamin b12 deficiency 9.7
915 autosomal genetic disease 9.7
916 oculogyric crisis 9.7
917 oppositional defiant disorder 9.7
918 colorectal adenocarcinoma 9.7
919 villous adenoma 9.7
920 fibroma 9.7
921 infective endocarditis 9.7
922 withdrawal disorder 9.7
923 munchausen by proxy 9.7
924 aphasia 9.7
925 pain agnosia 9.7
926 microscopic colitis 9.7
927 ileitis 9.7
928 ileocolitis 9.7
929 idiopathic scoliosis 9.7
930 myelomeningocele 9.7
931 3-methylglutaconic aciduria 9.7
932 glucocorticoid-induced osteoporosis 9.7
933 beta-lactam allergy 9.7
934 lethal congenital contracture syndrome 9.7
935 dextro-looped transposition of the great arteries 9.7
936 salmonellosis 9.7
937 isolated growth hormone deficiency 9.7
938 mixed sleep apnea 9.7
939 igg4-related disease 9.7
940 bronchiectasis 3 9.7
941 non-alcoholic steatohepatitis 9.7
942 migraine with aura 9.7
943 interstitial emphysema 9.7
944 osteonecrosis 9.7
945 dermatomyositis 9.7
946 aortic atherosclerosis 9.7
947 mumps 9.7
948 pneumoconiosis 9.7
949 secondary hypertrophic osteoarthropathy 9.7
950 tonsillitis 9.7
951 nasopharyngitis 9.7
952 mild pre-eclampsia 9.7
953 charcot-marie-tooth disease 9.7
954 lactose intolerance 9.7
955 tropical sprue 9.7
956 interstitial nephritis 9.7
957 frontal sinusitis 9.7
958 gastric ulcer 9.7
959 salivary gland disease 9.7
960 tooth disease 9.7
961 discitis 9.7
962 ovarian disease 9.7
963 depersonalization disorder 9.7
964 hydronephrosis 9.7
965 prostatic hypertrophy 9.7
966 sarcoma 9.7
967 cholecystolithiasis 9.7
968 anhidrosis 9.7
969 primary hyperparathyroidism 9.7
970 allergic conjunctivitis 9.7
971 arteriovenous malformation 9.7
972 pneumocystosis 9.7
973 subdural empyema 9.7
974 hemopericardium 9.7
975 cardiac tamponade 9.7
976 mitral valve insufficiency 9.7
977 autonomic neuropathy 9.7
978 retinal vasculitis 9.7
979 hyperandrogenism 9.7
980 choledocholithiasis 9.7
981 pericardial effusion 9.7
982 panuveitis 9.7
983 cryptococcosis 9.7
984 pulmonary alveolar proteinosis 9.7
985 dysthymic disorder 9.7
986 aseptic meningitis 9.7
987 common variable immunodeficiency 9.7
988 bile reflux 9.7
989 atypical depressive disorder 9.7
990 shigellosis 9.7
991 hepatic coma 9.7
992 hemolytic-uremic syndrome 9.7
993 hypertrophic pyloric stenosis 9.7
994 pyloric stenosis 9.7
995 sialolithiasis 9.7
996 dilated cardiomyopathy 9.7
997 focal segmental glomerulosclerosis 9.7
998 severe pre-eclampsia 9.7
999 hellp syndrome 9.7
1000 gout 9.7
1001 klebsiella pneumonia 9.7
1002 ehlers-danlos syndrome 9.7
1003 hepatic encephalopathy 9.7
1004 coccidioidomycosis 9.7
1005 eclampsia 9.7
1006 excessive tearing 9.7
1007 pharyngoconjunctival fever 9.7
1008 sick sinus syndrome 9.7
1009 ureterolithiasis 9.7
1010 adult-onset still's disease 9.7
1011 acute cholangitis 9.7
1012 generalized anxiety disorder 9.7
1013 niemann-pick disease 9.7
1014 prostatitis 9.7
1015 lymphangioma 9.7
1016 gingival disease 9.7
1017 cystic echinococcosis 9.7
1018 echinococcosis 9.7
1019 reproductive system disease 9.7
1020 keratosis 9.7
1021 toxic megacolon 9.7
1022 calcinosis 9.7
1023 status epilepticus 9.7
1024 dysostosis 9.7
1025 trichomoniasis 9.7
1026 cerebral palsy 9.7
1027 hepatitis b 9.7
1028 autoimmune hepatitis 9.7
1029 b cell deficiency 9.7
1030 thrombocytosis 9.7
1031 vulvovaginal candidiasis 9.7
1032 lateral sclerosis 9.7
1033 colon adenocarcinoma 9.7
1034 arteriosclerosis 9.7
1035 post-thrombotic syndrome 9.7
1036 neuroaxonal dystrophy 9.7
1037 central retinal vein occlusion 9.7
1038 basal cell carcinoma 9.7
1039 orchitis 9.7
1040 opiate dependence 9.7
1041 cervicitis 9.7
1042 cystadenoma 9.7
1043 auditory system disease 9.7
1044 glycogen storage disease 9.7
1045 contact dermatitis 9.7
1046 acalculous cholecystitis 9.7
1047 membranoproliferative glomerulonephritis 9.7
1048 cystic kidney disease 9.7
1049 primary hyperoxaluria 9.7
1050 food allergy 9.7
1051 astrocytoma 9.7
1052 early myoclonic encephalopathy 9.7
1053 cystic lymphangioma 9.7
1054 cystadenocarcinoma 9.7
1055 neurilemmoma 9.7
1056 teratoma 9.7
1057 embryonal carcinoma 9.7
1058 bipolar disorder 9.7
1059 gm1 gangliosidosis 9.7
1060 bacterial vaginosis 9.7
1061 inappropriate adh syndrome 9.7
1062 mammary paget's disease 9.7
1063 breast adenocarcinoma 9.7
1064 cellulitis 9.7
1065 mixed connective tissue disease 9.7
1066 mucinous cystadenocarcinoma 9.7
1067 cervical adenocarcinoma 9.7
1068 protein c deficiency 9.7
1069 granuloma annulare 9.7
1070 porokeratosis 9.7
1071 lynch syndrome 9.7
1072 multidrug-resistant tuberculosis 9.7
1073 syphilis 9.7
1074 hypertrichosis 9.7
1075 spindle cell sarcoma 9.7
1076 granulomatous dermatitis 9.7
1077 pustulosis of palm and sole 9.7
1078 folliculitis 9.7
1079 holoprosencephaly 9.7
1080 familial retinoblastoma 9.7
1081 immune-complex glomerulonephritis 9.7
1082 movement disease 9.7
1083 benign ependymoma 9.7
1084 adenocarcinoma in situ 9.7
1085 adjustment disorder 9.7
1086 ovarian cyst 9.7
1087 arteriolosclerosis 9.7
1088 pituitary gland disease 9.7
1089 cellular ependymoma 9.7
1090 adult acute lymphocytic leukemia 9.7
1091 adenosine deaminase deficiency 9.7
1092 silent myocardial infarction 9.7
1093 lymphopenia 9.7
1094 reactive arthritis 9.7
1095 thyroid hyalinizing trabecular adenoma 9.7
1096 complement deficiency 9.7
1097 fibromyalgia 9.7
1098 cerebrovascular disease 9.7
1099 spinal stenosis 9.7
1100 pancreatic mucinous cystadenoma 9.7
1101 active peptic ulcer disease 9.7
1102 myocarditis 9.7
1103 chronic rhinitis 9.7
1104 corneal ulcer 9.7
1105 herpes zoster 9.7
1106 chronic fatigue syndrome 9.7
1107 malignant hyperthermia 9.7
1108 nervous system disease 9.7
1109 perinatal necrotizing enterocolitis 9.7
1110 pyomyositis 9.7
1111 psoriasis 9.7
1112 narcolepsy 9.7
1113 cervix uteri carcinoma in situ 9.7
1114 eczema herpeticum 9.7
1115 achalasia 9.7
1116 periodic limb movement disorder 9.7
1117 central sleep apnea 9.7
1118 priapism 9.7
1119 cleft lip 9.7
1120 iridocyclitis 9.7
1121 croup 9.7
1122 hypopituitarism 9.7
1123 diabetes insipidus 9.7
1124 meningitis 9.7
1125 ethmoid sinusitis 9.7
1126 irritable bowel syndrome 9.7
1127 intestinal disaccharidase deficiency 9.7
1128 hypoplastic left heart syndrome 9.7
1129 carotenemia 9.7
1130 muscular dystrophy, duchenne and becker type 9.7
1131 atp8b1 deficiency 9.7
1132 c3 glomerulopathy 9.7
1133 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 9.7
1134 congenital disorders of n-linked glycosylation and multiple pathway 9.7
1135 medium-chain acyl-coenzyme a dehydrogenase deficiency 9.7
1136 prss1-related hereditary pancreatitis 9.7
1137 tardbp-related amyotrophic lateral sclerosis 9.7
1138 y chromosome infertility 9.7
1139 abdominal cystic lymphangioma 9.7
1140 acardia 9.7
1141 biliary tract cancer 9.7
1142 bowen's disease 9.7
1143 cerebrospinal fluid leak 9.7
1144 cervical intraepithelial neoplasia 9.7
1145 chiari malformation 9.7
1146 congenital cytomegalovirus 9.7
1147 cough headache 9.7
1148 distal renal tubular acidosis 9.7
1149 familial colorectal cancer 9.7
1150 fasting hypoglycemia 9.7
1151 fibromatosis 9.7
1152 gangliosidosis 9.7
1153 glioma 9.7
1154 granulocytopenia 9.7
1155 hansen's disease 9.7
1156 laryngeal cleft 9.7
1157 monogenic diabetes 9.7
1158 mycobacterium xenopi 9.7
1159 neonatal adrenoleukodystrophy 9.7
1160 pituitary stalk interruption syndrome 9.7
1161 precocious puberty 9.7
1162 ring chromosome 2 9.7
1163 secondary adrenal insufficiency 9.7
1164 single ventricular heart 9.7
1165 stevens-johnson syndrome/toxic epidermal necrolysis 9.7
1166 tracheobronchomalacia 9.7
1167 transverse myelitis 9.7
1168 abdominal wall defect 9.7
1169 sporadic hemiplegic migraine 9.7
1170 aneurysm 9.7
1171 cerebral aneurysms 9.7
1172 cerebral hypoxia 9.7
1173 extrapontine myelinolysis 9.7
1174 hereditary neuropathies 9.7
1175 spinal cord injury 9.7
1176 syncope 9.7
1177 posttransplant acute limbic encephalitis 9.7
1178 cleft lip/palate 9.7
1179 monosomy 21 9.7
1180 glial tumor 9.7
1181 adrenogenital syndrome 9.7
1182 inflammatory myopathy with abundant macrophages 9.7
1183 viral myositis 9.7
1184 rare lymphatic malformation 9.7
1185 rare hereditary hemochromatosis 9.7
1186 virus-associated trichodysplasia spinulosa 9.7
1187 acute sensory ataxic neuropathy 9.7
1188 fixed drug eruption 9.7
1189 paracetamol poisoning 9.7
1190 isolated tracheoesophageal fistula 9.7
1191 secondary vasculitis 9.7
1192 secondary sclerosing cholangitis 9.7
1193 mucinous cystadenocarcinoma of the pancreas 9.7
1194 premature aging 9.7
1195 solar urticaria 9.7
1196 thrombotic microangiopathy 9.7
1197 alobar holoprosencephaly 9.7
1198 vitreoretinopathy 9.7
1199 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 22, 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 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
4 pulmonary fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002206
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 circulating antibody level 31 hallmark (90%) 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 decreased antibody level in blood 58 Very frequent (99-80%)
12 hypercalciuria 31 HP:0002150
13 asthma 31 HP:0002099
14 rectal prolapse 31 HP:0002035
15 recurrent pneumonia 31 HP:0006532
16 bronchiectasis 31 HP:0002110
17 male infertility 31 HP:0003251
18 recurrent bronchopulmonary infections 31 HP:0006538
19 chronic lung disease 31 HP:0006528
20 cor pulmonale 31 HP:0001648
21 elevated sweat chloride 31 HP:0012236
22 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

MGI Mouse Phenotypes related to Cystic Fibrosis:

45 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 CFTR CLCA1 DCTN4 DNASE1 EPHX1 MBL2
2 mortality/aging MP:0010768 9.44 CFTR DCTN4 DERL1 DNASE1 FCGR2A PLG

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 518, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clarithromycin Approved Phase 4 81103-11-9 84029
2
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
3
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
4
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
5
Methadone Approved Phase 4 76-99-3 4095
6
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
7
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
8
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
9
Meropenem Approved, Investigational Phase 4 96036-03-2, 119478-56-7 441130 64778
10
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
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
Telavancin Approved Phase 4 372151-71-8
16
Tedizolid phosphate Approved Phase 4 856867-55-5
17
Tedizolid Approved, Investigational Phase 4 856866-72-3
18
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
19
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
20
Theophylline Approved Phase 4 58-55-9 2153
21
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
22
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
23
Tamoxifen Approved Phase 4 10540-29-1 2733526
24
Sage Approved Phase 4
25
Atorvastatin Approved Phase 4 134523-00-5 60823
26
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3
27
Colistin Approved Phase 4 1264-72-8, 1066-17-7 5311054
28
Denosumab Approved Phase 4 615258-40-7
29
Insulin aspart Approved Phase 4 116094-23-6 16132418
30
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
31
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
32
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
33
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
34
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
35
Ceftazidime Approved Phase 4 72558-82-8, 78439-06-2 5481173
36
Omalizumab Approved, Investigational Phase 4 242138-07-4
37
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
38
Tazobactam Approved Phase 4 89786-04-9 123630
39
Piperacillin Approved Phase 4 66258-76-2 43672
40
Mycophenolic acid Approved Phase 4 24280-93-1 446541
41
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866