Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
21 (37.5%) |
31118044 |
Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report. Martinez-Hernandez A, Larrosa J, Barajas-Olmos F, Garcia-Ortiz H, Mendoza-Caamal EC, Contreras-Cubas C, Mirzaeicheshmeh E, Lezana JL, Orozco L. BMC Med Genomics. 2019;12(1):68. |
Anemia Malabsorption | ||
CFTR | ||
c|SUB|G|1762|T c|SUB|G|3266|A;RS#:78802634 p|SUB|E|588|* p|SUB|W|1089|* | ||
Base Sequence Child Cystic Fibrosis Females High-Throughput Nucleotide Sequencing Homo sapiens Male Mexico Phenotype | ||
21 (37.5%) |
8156723 |
Severe hemolytic anemia associated with vitamin E deficiency in infants with cystic fibrosis. Implications for neonatal screening. Wilfond BS, Farrell PM, Laxova A, Mischler E. Clin Pediatr (Phila). 1994;33(1):2-7. |
Hemolytic anemia Malnutrition | ||
Anemia, Hemolytic Cystic Fibrosis Homo sapiens Infant Infant, Newborn Male Neonatal Screening Vitamin E Deficiency | ||
21 (37.5%) |
1335778 |
[The diagnostic difficulties in a case of a hemorrhagic syndrome in an infant]. Popescu V, Dragomir D, Plesca D, Zamfirescu A. Pediatrie (Bucur). 1992;41(4):70-5. |
Anemia Malabsorption | ||
F2 | ||
Cystic Fibrosis Differential Diagnosis Hemorrhage Homo sapiens Infant Liver Failure Syndrome Vitamin K Deficiency | ||
24 (36.3%) |
30979466 |
Unusual Cystic Fibrosis Transmembrane Conductance Regulator Mutations and Liver Disease: A Case Series and Review of the Literature. Khan HH, Mew NA, Kaufman SS, Yazigi NA, Fishbein TM, Khan KM. Transplant Proc. 2019;51(3):790-793. |
Cholestasis Gastrointestinal hemorrhage | ||
CFTR PEX26 | ||
p|SUB|K|186|N;RS#:397508753(Expired) p|SUB|R|75|Q;RS#:1800076 | ||
Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulato... Females Homo sapiens Infant, Newborn Male Mutation Preterm Infant | ||
25 (35.1%) |
19999802 |
[Ascites and extreme lipid abnormalities as initial symptoms of cystic fibrosis in a 5-years-old girl--case report]. Pytrus T, Iwanczak B, Smigiel R, Ryzko J, Socha P, Iwanczak F. Pol Merkur Lekarski. 2009;27(161):388-92. |
Cholestasis Ascites Hypocholesterolemia | ||
CFTR | ||
Ascites Child, Preschool Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulato... Females Homo sapiens Lipid Metabolism Disorders Sweat | ||
26 (34.9%) |
16830624 |
[Pathomorphology of the mixed form of mycoviscidosis in an adult patient]. Iunosova IuR, Plokhova VA, Sukhachev PA, Smetanikov VM. Arkh Patol. 2006;68(3):35-7. |
Edema Cirrhosis Splenomegaly | ||
Adult Cystic Fibrosis Fatal Outcome Homo sapiens Intestinal Diseases Male Pancreatic Diseases | ||
27 (34.9%) |
8200573 |
Spontaneous bacterial peritonitis in cystic fibrosis. Doershuk CF, Stern RC. Gut. 1994;35(5):709-11. |
Cirrhosis Fever Hypersplenism Biliary cirrhosis | ||
Adult Bacterial Infections Cystic Fibrosis Females Homo sapiens Liver Cirrhosis Male Peritonitis Splenectomy | ||
28 (34.3%) |
23085252 (3519943) |
Eosinophilic esophagitis in cystic fibrosis: a case series and review of the literature. Goralski JL, Lercher DM, Davis SD, Dellon ES. J Cyst Fibros. 2013;12(1):9-14. |
Cholelithiasis Eosinophilia | ||
Child, Preschool Cystic Fibrosis Females Glucocorticoids Homo sapiens | ||
29 (33.4%) |
17097368 |
Acrodermatitis enteropathica-like eruption and failure to thrive as presenting signs of cystic fibrosis. Zedek D, Morrell DS, Graham M, Goodman D, Groben P. J Am Acad Dermatol. 2008;58(2 Suppl):S5-8. |
Edema Anemia | ||
Acrodermatitis Cystic Fibrosis Failure to Thrive Fatal Outcome Females Homo sapiens Hypoproteinemia Infant Protein-Energy Malnutrition | ||
29 (33.4%) |
6497709 |
[Fibrocystic disease of the pancreas: a presentation feature. Anatomopathological report]. Heffes Nahmod LA, Ortiz J, Cervetto JL, Guastavino E, Boffi A. Arq Gastroenterol. 1984;21(1):39-45. |
Edema Anemia | ||
Bronchi Cystic Fibrosis Duodenum Females Gallbladder Homo sapiens Infant Liver Male Pancreas |
Total: 8
HPO ID | Term | Frequency |
---|---|---|
HP:0001738 | Exocrine pancreatic insufficiency | Very frequent (99-80%) |
HP:0002024 | Malabsorption | Very frequent (99-80%) |
HP:0002205 | Recurrent respiratory infections | Very frequent (99-80%) |
HP:0002206 | Pulmonary fibrosis | Very frequent (99-80%) |
HP:0002613 | Biliary cirrhosis | Very frequent (99-80%) |
HP:0002721 | Immunodeficiency | Very frequent (99-80%) |
HP:0004313 | Decreased antibody level in blood | Very frequent (99-80%) |
HP:0002240 | Hepatomegaly | Occasional (29-5%) |
Total: 353
HPO ID | Term | # of case reports |
---|---|---|
HP:0002110 | Bronchiectasis | 58 |
HP:0002099 | Asthma | 57 |
HP:0004401 | Meconium ileus | 44 |
HP:0002090 | Pneumonia | 30 |
HP:0002878 | Respiratory failure | 30 |
HP:0005214 | Intestinal obstruction | 26 |
HP:0001394 | Cirrhosis | 21 |
HP:0001733 | Pancreatitis | 21 |
HP:0004395 | Malnutrition | 21 |
HP:0012735 | Cough | 20 |
HP:0001508 | Failure to thrive | 19 |
HP:0025615 | Abscess | 19 |
HP:0002105 | Hemoptysis | 18 |
HP:0002027 | Abdominal pain | 17 |
HP:0002107 | Pneumothorax | 17 |
HP:0200114 | Metabolic alkalosis | 17 |
HP:0002024 | Malabsorption | 16 |
HP:0000822 | Hypertension | 14 |
HP:0000819 | Diabetes mellitus | 13 |
HP:0006280 | Chronic pancreatitis | 12 |
HP:0031035 | Chronic infection | 12 |
HP:0001409 | Portal hypertension | 11 |
HP:0001396 | Cholestasis | 10 |
HP:0001945 | Fever | 10 |
HP:0002094 | Dyspnea | 10 |
HP:0011947 | Respiratory tract infection | 10 |
HP:0000789 | Infertility | 9 |
HP:0001735 | Acute pancreatitis | 9 |
HP:0001944 | Dehydration | 9 |
HP:0012236 | Elevated sweat chloride | 9 |
HP:0012387 | Bronchitis | 9 |
HP:0100582 | Nasal polyposis | 9 |
HP:0000952 | Jaundice | 8 |
HP:0001738 | Exocrine pancreatic insufficiency | 8 |
HP:0002014 | Diarrhea | 8 |
HP:0002097 | Emphysema | 8 |
HP:0002315 | Headache | 8 |
HP:0002583 | Colitis | 8 |
HP:0002613 | Biliary cirrhosis | 8 |
HP:0002835 | Aspiration | 8 |
HP:0002098 | Respiratory distress | 7 |
HP:0002721 | Immunodeficiency | 7 |
HP:0011109 | Chronic sinusitis | 7 |
HP:0030731 | Carcinoma | 7 |
HP:0100027 | Recurrent pancreatitis | 7 |
HP:0000618 | Blindness | 6 |
HP:0000969 | Edema | 6 |
HP:0001878 | Hemolytic anemia | 6 |
HP:0001903 | Anemia | 6 |
HP:0002019 | Constipation | 6 |
HP:0005912 | Biliary atresia | 6 |
HP:0000027 | Azoospermia | 5 |
HP:0000100 | Nephrotic syndrome | 5 |
HP:0000246 | Sinusitis | 5 |
HP:0001081 | Cholelithiasis | 5 |
HP:0001250 | Seizures | 5 |
HP:0001369 | Arthritis | 5 |
HP:0001541 | Ascites | 5 |
HP:0001824 | Weight loss | 5 |
HP:0002013 | Vomiting | 5 |
HP:0002020 | Gastroesophageal reflux | 5 |
HP:0002093 | Respiratory insufficiency | 5 |
HP:0002576 | Intussusception | 5 |
HP:0002902 | Hyponatremia | 5 |
HP:0003040 | Arthropathy | 5 |
HP:0003470 | Paralysis | 5 |
HP:0011962 | Obstructive azoospermia | 5 |
HP:0012115 | Hepatitis | 5 |
HP:0012263 | Immotile cilia | 5 |
HP:0030049 | Brain abscess | 5 |
HP:0030828 | Wheezing | 5 |
HP:0031273 | Shock | 5 |
HP:0031864 | Bacteremia | 5 |
HP:0100584 | Endocarditis | 5 |
HP:0100750 | Atelectasis | 5 |
HP:0100806 | Sepsis | 5 |
HP:0001298 | Encephalopathy | 4 |
HP:0001370 | Rheumatoid arthritis | 4 |
HP:0002206 | Pulmonary fibrosis | 4 |
HP:0002617 | Dilatation | 4 |
HP:0003075 | Hypoproteinemia | 4 |
HP:0004387 | Enterocolitis | 4 |
HP:0011946 | Bronchiolitis obliterans | 4 |
HP:0012393 | Allergy | 4 |
HP:0025044 | Lung abscess | 4 |
HP:0100749 | Chest pain | 4 |
HP:0000083 | Renal insufficiency | 3 |
HP:0000099 | Glomerulonephritis | 3 |
HP:0000112 | Nephropathy | 3 |
HP:0000238 | Hydrocephalus | 3 |
HP:0000790 | Hematuria | 3 |
HP:0000939 | Osteoporosis | 3 |
HP:0000979 | Purpura | 3 |
HP:0001251 | Ataxia | 3 |
HP:0001513 | Obesity | 3 |
HP:0001635 | Congestive heart failure | 3 |
HP:0001638 | Cardiomyopathy | 3 |
HP:0001655 | Patent foramen ovale | 3 |
HP:0001737 | Pancreatic cysts | 3 |
HP:0001880 | Eosinophilia | 3 |
HP:0001971 | Hypersplenism | 3 |
HP:0002040 | Esophageal varix | 3 |
HP:0002108 | Spontaneous pneumothorax | 3 |
HP:0002240 | Hepatomegaly | 3 |
HP:0002580 | Volvulus | 3 |
HP:0002586 | Peritonitis | 3 |
HP:0002595 | Ileus | 3 |
HP:0002664 | Neoplasm | 3 |
HP:0003003 | Colon cancer | 3 |
HP:0004322 | Short stature | 3 |
HP:0004469 | Chronic bronchitis | 3 |
HP:0010628 | Facial palsy | 3 |
HP:0011950 | Bronchiolitis | 3 |
HP:0025428 | Bronchospasm | 3 |
HP:0030717 | Meconium peritonitis | 3 |
HP:0000093 | Proteinuria | 2 |
HP:0000121 | Nephrocalcinosis | 2 |
HP:0000739 | Anxiety | 2 |
HP:0000843 | Hyperparathyroidism | 2 |
HP:0000846 | Adrenal insufficiency | 2 |
HP:0000938 | Osteopenia | 2 |
HP:0000975 | Hyperhidrosis | 2 |
HP:0000988 | Skin rash | 2 |
HP:0001082 | Cholecystitis | 2 |
HP:0001217 | Clubbing | 2 |
HP:0001648 | Cor pulmonale | 2 |
HP:0001658 | Myocardial infarction | 2 |
HP:0001685 | Myocardial fibrosis | 2 |
HP:0001701 | Pericarditis | 2 |
HP:0001907 | Thromboembolism | 2 |
HP:0001909 | Leukemia | 2 |
HP:0001948 | Alkalosis | 2 |
HP:0001953 | Diabetic ketoacidosis | 2 |
HP:0002028 | Chronic diarrhea | 2 |
HP:0002039 | Anorexia | 2 |
HP:0002204 | Pulmonary embolism | 2 |
HP:0002516 | Increased intracranial pressure | 2 |
HP:0002570 | Steatorrhea | 2 |
HP:0002630 | Fat malabsorption | 2 |
HP:0002719 | Recurrent infections | 2 |
HP:0002748 | Rickets | 2 |
HP:0002901 | Hypocalcemia | 2 |
HP:0002904 | Hyperbilirubinemia | 2 |
HP:0002908 | Conjugated hyperbilirubinemia | 2 |
HP:0002955 | Granulomatosis | 2 |
HP:0003072 | Hypercalcemia | 2 |
HP:0003073 | Hypoalbuminemia | 2 |
HP:0003193 | Allergic rhinitis | 2 |
HP:0003198 | Myopathy | 2 |
HP:0003251 | Male infertility | 2 |
HP:0003418 | Back pain | 2 |
HP:0006532 | Recurrent pneumonia | 2 |
HP:0011102 | Ileal atresia | 2 |
HP:0011458 | Abdominal symptom | 2 |
HP:0011951 | Aspiration pneumonia | 2 |
HP:0012418 | Hypoxemia | 2 |
HP:0012486 | Myelitis | 2 |
HP:0012636 | Retinal vein occlusion | 2 |
HP:0030449 | Therapeutic abortion | 2 |
HP:0030994 | Pancreas divisum | 2 |
HP:0031363 | Palpable purpura | 2 |
HP:0031625 | Pseudoaneurysm | 2 |
HP:0032168 | Clostridium difficile colitis | 2 |
HP:0100614 | Myositis | 2 |
HP:0100653 | Optic neuritis | 2 |
HP:0000020 | Urinary incontinence | 1 |
HP:0000023 | Inguinal hernia | 1 |
HP:0000096 | Glomerulosclerosis | 1 |
HP:0000124 | Renal tubular dysfunction | 1 |
HP:0000125 | Pelvic kidney | 1 |
HP:0000316 | Hypertelorism | 1 |
HP:0000488 | Retinopathy | 1 |
HP:0000491 | Keratitis | 1 |
HP:0000520 | Proptosis | 1 |
HP:0000580 | Pigmentary retinopathy | 1 |
HP:0000602 | Ophthalmoplegia | 1 |
HP:0000608 | Macular degeneration | 1 |
HP:0000651 | Diplopia | 1 |
HP:0000662 | Nyctalopia | 1 |
HP:0000765 | Abnormality of the thorax | 1 |
HP:0000836 | Hyperthyroidism | 1 |
HP:0000842 | Hyperinsulinemia | 1 |
HP:0000853 | Goiter | 1 |
HP:0000855 | Insulin resistance | 1 |
HP:0000859 | Hyperaldosteronism | 1 |
HP:0000867 | Secondary hyperparathyroidism | 1 |
HP:0000869 | Secondary amenorrhea | 1 |
HP:0000961 | Cyanosis | 1 |
HP:0000966 | Hypohidrosis | 1 |
HP:0001138 | Optic neuropathy | 1 |
HP:0001271 | Polyneuropathy | 1 |
HP:0001284 | Areflexia | 1 |
HP:0001297 | Stroke | 1 |
HP:0001342 | Cerebral hemorrhage | 1 |
HP:0001397 | Hepatic steatosis | 1 |
HP:0001401 | Intrahepatic biliary dysgenesis | 1 |
HP:0001537 | Umbilical hernia | 1 |
HP:0001548 | Overgrowth | 1 |
HP:0001605 | Vocal cord paralysis | 1 |
HP:0001649 | Tachycardia | 1 |
HP:0001718 | Mitral stenosis | 1 |
HP:0001742 | Nasal obstruction | 1 |
HP:0001744 | Splenomegaly | 1 |
HP:0001791 | Fetal ascites | 1 |
HP:0001873 | Thrombocytopenia | 1 |
HP:0001875 | Neutropenia | 1 |
HP:0001913 | Granulocytopenia | 1 |
HP:0001919 | Acute kidney injury | 1 |
HP:0001947 | Renal tubular acidosis | 1 |
HP:0001952 | Glucose intolerance | 1 |
HP:0001955 | Unexplained fevers | 1 |
HP:0001974 | Leukocytosis | 1 |
HP:0001993 | Ketoacidosis | 1 |
HP:0002017 | Nausea and vomiting | 1 |
HP:0002018 | Nausea | 1 |
HP:0002021 | Pyloric stenosis | 1 |
HP:0002041 | Intractable diarrhea | 1 |
HP:0002070 | Limb ataxia | 1 |
HP:0002076 | Migraine | 1 |
HP:0002113 | Pulmonary infiltrates | 1 |
HP:0002148 | Hypophosphatemia | 1 |
HP:0002155 | Hypertriglyceridemia | 1 |
HP:0002157 | Azotemia | 1 |
HP:0002176 | Spinal cord compression | 1 |
HP:0002181 | Cerebral edema | 1 |
HP:0002205 | Recurrent respiratory infections | 1 |
HP:0002245 | Meckel diverticulum | 1 |
HP:0002246 | Abnormality of the duodenum | 1 |
HP:0002248 | Hematemesis | 1 |
HP:0002253 | Colonic diverticula | 1 |
HP:0002414 | Spina bifida | 1 |
HP:0002480 | Hepatic encephalopathy | 1 |
HP:0002488 | Acute leukemia | 1 |
HP:0002566 | Intestinal malrotation | 1 |
HP:0002573 | Hematochezia | 1 |
HP:0002584 | Intestinal bleeding | 1 |
HP:0002619 | Varicose veins | 1 |
HP:0002625 | Deep venous thrombosis | 1 |
HP:0002650 | Scoliosis | 1 |
HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 |
HP:0002749 | Osteomalacia | 1 |
HP:0002751 | Kyphoscoliosis | 1 |
HP:0002754 | Osteomyelitis | 1 |
HP:0002780 | Bronchomalacia | 1 |
HP:0002783 | Recurrent lower respiratory tract infections | 1 |
HP:0002829 | Arthralgia | 1 |
HP:0002870 | Obstructive sleep apnea | 1 |
HP:0002875 | Exertional dyspnea | 1 |
HP:0002900 | Hypokalemia | 1 |
HP:0002907 | Microscopic hematuria | 1 |
HP:0002958 | Immune dysregulation | 1 |
HP:0003077 | Hyperlipidemia | 1 |
HP:0003124 | Hypercholesterolemia | 1 |
HP:0003149 | Hyperuricosuria | 1 |
HP:0003159 | Hyperoxaluria | 1 |
HP:0003201 | Rhabdomyolysis | 1 |
HP:0003546 | Exercise intolerance | 1 |
HP:0004308 | Ventricular arrhythmia | 1 |
HP:0004389 | Intestinal pseudo-obstruction | 1 |
HP:0004431 | Complement deficiency | 1 |
HP:0004787 | Fulminant hepatitis | 1 |
HP:0004789 | Lactose intolerance | 1 |
HP:0004905 | Low levels of vitamin A | 1 |
HP:0004936 | Venous thrombosis | 1 |
HP:0004942 | Aortic aneurysm | 1 |
HP:0005110 | Atrial fibrillation | 1 |
HP:0005112 | Abdominal aortic aneurysm | 1 |
HP:0005162 | Left ventricular dysfunction | 1 |
HP:0005213 | Pancreatic calcification | 1 |
HP:0005263 | Gastritis | 1 |
HP:0005348 | Inspiratory stridor | 1 |
HP:0005575 | Hemolytic-uremic syndrome | 1 |
HP:0005942 | Desquamative interstitial pneumonitis | 1 |
HP:0005952 | Decreased pulmonary function | 1 |
HP:0005972 | Respiratory acidosis | 1 |
HP:0005977 | Hypochloremic metabolic alkalosis | 1 |
HP:0006517 | Alveolar proteinosis | 1 |
HP:0006579 | Prolonged neonatal jaundice | 1 |
HP:0006597 | Diaphragmatic paralysis | 1 |
HP:0006640 | Multiple rib fractures | 1 |
HP:0006725 | Pancreatic adenocarcinoma | 1 |
HP:0007269 | Spinal muscular atrophy | 1 |
HP:0008070 | Sparse hair | 1 |
HP:0008682 | Acute tubular necrosis | 1 |
HP:0008755 | Laryngotracheomalacia | 1 |
HP:0008757 | Unilateral vocal cord paralysis | 1 |
HP:0009125 | Lipodystrophy | 1 |
HP:0009800 | Maternal diabetes | 1 |
HP:0010444 | Pulmonary insufficiency | 1 |
HP:0010535 | Sleep apnea | 1 |
HP:0010553 | Oculogyric crisis | 1 |
HP:0010566 | Hamartoma | 1 |
HP:0010614 | Fibroma | 1 |
HP:0010783 | Erythema | 1 |
HP:0010943 | Echogenic fetal bowel | 1 |
HP:0010961 | Intralobar sequestration | 1 |
HP:0010980 | Hyperlipoproteinemia | 1 |
HP:0011100 | Intestinal atresia | 1 |
HP:0011106 | Hypovolemia | 1 |
HP:0011432 | High maternal serum alpha-fetoprotein | 1 |
HP:0011510 | Drusen | 1 |
HP:0011675 | Arrhythmia | 1 |
HP:0011741 | Secondary hyperaldosteronism | 1 |
HP:0011897 | Neutrophilia | 1 |
HP:0012089 | Arteritis | 1 |
HP:0012330 | Pyelonephritis | 1 |
HP:0012384 | Rhinitis | 1 |
HP:0012388 | Acute bronchitis | 1 |
HP:0012416 | Hypercapnia | 1 |
HP:0012537 | Food intolerance | 1 |
HP:0012597 | Heavy proteinuria | 1 |
HP:0020074 | Crystalluria | 1 |
HP:0020106 | Severe giardiasis | 1 |
HP:0025084 | Folliculitis | 1 |
HP:0025267 | Snoring | 1 |
HP:0025356 | Psychomotor retardation | 1 |
HP:0025439 | Pharyngitis | 1 |
HP:0025502 | Overweight | 1 |
HP:0025520 | Calcinosis cutis | 1 |
HP:0030151 | Cholangitis | 1 |
HP:0030157 | Flank pain | 1 |
HP:0030169 | Gastric varix | 1 |
HP:0030357 | Small cell lung carcinoma | 1 |
HP:0030915 | Cerebellar edema | 1 |
HP:0030955 | Alcoholism | 1 |
HP:0031218 | Inappropriate antidiuretic hormone secretion | 1 |
HP:0031258 | Delirium | 1 |
HP:0031284 | Flushing | 1 |
HP:0031344 | Pelvic arteriovenous malformation | 1 |
HP:0031495 | Mucinous neoplasm | 1 |
HP:0031500 | Abdominal mass | 1 |
HP:0031615 | Hypopyon | 1 |
HP:0031801 | Vocal cord dysfunction | 1 |
HP:0032282 | Contact dermatitis | 1 |
HP:0032366 | Positive direct antiglobulin test | 1 |
HP:0040049 | Macular edema | 1 |
HP:0040128 | Abnormal sweat electrolytes | 1 |
HP:0100021 | Cerebral palsy | 1 |
HP:0100026 | Arteriovenous malformation | 1 |
HP:0100501 | Recurrent bronchiolitis | 1 |
HP:0100523 | Liver abscess | 1 |
HP:0100541 | Femoral hernia | 1 |
HP:0100574 | Biliary tract neoplasm | 1 |
HP:0100633 | Esophagitis | 1 |
HP:0100651 | Type I diabetes mellitus | 1 |
HP:0100721 | Mediastinal lymphadenopathy | 1 |
HP:0100732 | Pancreatic fibrosis | 1 |
HP:0100753 | Schizophrenia | 1 |
HP:0100776 | Recurrent pharyngitis | 1 |
HP:0200123 | Chronic hepatitis | 1 |
HP:0410019 | Epigastric pain | 1 |
HP:0430025 | Bilateral facial palsy | 1 |
HP:0500093 | Food allergy | 1 |