Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
1 (55.1%) |
24502104 |
Presentation of an infant with nutritional deficiency dermatitis as the initial manifestation of cystic fibrosis. Stojkovic A, Radlovic N, Vuletic B, Nestorovic B, Lekovic Z, Obradovic S, Vujic A. Srp Arh Celok Lek. 2013;141(11-12):810-3. |
Hepatosplenomegaly Normochromic anemia Hypoalbuminemia | ||
Cystic Fibrosis Dermatitis Homo sapiens Infant Male Malnutrition | ||
1 (55.1%) |
14758309 |
Edema, anemia, hypoproteinemia, and acrodermatitis enteropathica: an uncommon initial presentation of cystic fibrosis. Muniz AE, Bartle S, Foster R. Pediatr Emerg Care. 2004;20(2):112-4. |
Edema Anemia Hepatomegaly | ||
Acrodermatitis Anemia Cystic Fibrosis Diarrhea Edema Homo sapiens Hypoproteinemia Infant Male | ||
3 (50.6%) |
11196750 |
Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case. Yenicesu I, Kalayci O, Semizel E, Kavak U, Gumruk F, Ferec C, Beutler E. Turk J Pediatr. 2000;42(4):319-21. |
Hemolytic anemia Malnutrition Stomatocytosis Elevated sweat chloride | ||
F5 TPI1 | ||
Anemia, Hemolytic, Congenital Nonspherocytic Chlorides Cystic Fibrosis Differential Diagnosis Females Homo sapiens Infant Mutation Sweat Triose-Phosphate Isomerase | ||
4 (49.9%) |
17228786 |
[Clinical studies of pediatric malabsorption syndromes]. Hosoyamada T. Fukuoka Igaku Zasshi. 2006;97(11):322-50. |
Acanthocytosis Dehydration Diarrhea | ||
GAST | ||
Acrodermatitis Child Child, Preschool Cystic Fibrosis Diarrhea Females Glycogen Storage Disease Type I Hartnup Disease Homo sapiens Hypobetalipoproteinemia, Familial, Apolipoprotein ... Infant Infant, Newborn Infantile Diarrhea Lactose Intolerance Lymphangiectasis, Intestinal Malabsorption Syndrome Male | ||
5 (47.8%) |
3431024 |
[Manifestation of intolerance to cow's milk protein in mucoviscidosis with the symptom triad of hypoproteinemia, edema and anemia]. Skopnik H, Heimann G. Klin Padiatr. 1987;199(6):453-6. |
Edema Exocrine pancreatic insufficiency Anemia | ||
Anemia Cystic Fibrosis Differential Diagnosis Edema Homo sapiens Hypoproteinemia Infant Malabsorption Syndrome Male Milk Proteins | ||
6 (46.6%) |
1417024 |
Dermatitis as a presenting sign of cystic fibrosis. Darmstadt GL, Schmidt CP, Wechsler DS, Tunnessen WW, Rosenstein BJ. Arch Dermatol. 1992;128(10):1358-64. |
Edema Anemia Malnutrition Papule | ||
Cystic Fibrosis Dermatitis Females Homo sapiens Infant Male | ||
7 (44.7%) |
26223399 |
[Cutaneous manifestations of cystic fibrosis in an infant: acrodermatitis enteropathica and gray hair]. Yarmuch GP, Chaparro RX, Fischer SC. Rev Chil Pediatr. 2015;86(1):52-5. |
Skin rash Anemia Hypoproteinemia | ||
Acrodermatitis Anemia Cystic Fibrosis Enzyme Replacement Therapy Females Hair Color Homo sapiens Hypoproteinemia Infant | ||
8 (43.7%) |
24778569 (4001421) |
Hair depigmentation and dermatitis - an unexpected presentation of cystic fibrosis. Milankov O, Savic R, Tosic J. Balkan J Med Genet. 2013;16(2):81-4. |
Edema Anemia Malnutrition | ||
9 (43.5%) |
12216439 |
Cystic fibrosis presenting as fetal anemia. A case report. Rijhsinghani A, Hansen WF, Phan B. J Reprod Med. 2002;47(8):686-8. |
Ascites Anemia | ||
Adult Anemia Blood Flow Velocity Cystic Fibrosis Females Fetal Diseases Homo sapiens Male Pregnancy Ultrasonography | ||
9 (43.5%) |
11225471 |
[Neonatal ascites: meconium ileus with perforation in mucoviscidosis]. Stoll-Becker S, Reiss I, Huls G, Hauch A, Hermsteiner M, Gortner L. Klin Padiatr. 2001;213(1):26-7. |
Ascites Anemia | ||
Ascites Cystic Fibrosis Differential Diagnosis Homo sapiens Ileal Diseases Infant, Newborn Infant, Premature, Diseases Intestinal Obstruction Intestinal Perforation Male Meconium Ultrasonography, Prenatal |
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 |