| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 228 (9.2%) |
17497044 |
Pulmonary arterial hypertension after splenectomy for hereditary spherocytosis. Smedema JP, Louw VJ. Cardiovasc J Afr. 2007;18(2):84-9. |
| Hypertension | ||
| Echocardiography, Doppler Electrocardiography Homo sapiens Magnetic Resonance Imaging Male Middle Aged Postoperative Complications Pulmonary Hypertension Right Ventricular Hypertrophy Splenectomy Time Factors | ||
| 232 (5.0%) |
27445073 |
Bilateral central serous retinopathy in a patient with paroxysmal nocturnal hemoglobinuria treated with deferoxamine. Vahdani K, Makrygiannis G, Kaneshyogan H, Sian IS, Giasin O. Eur J Ophthalmol. 2016;26(6):e152-e154. |
| Retinopathy | ||
| Central Serous Chorioretinopathy Fluorescein Angiography Hemoglobinuria, Paroxysmal Homo sapiens Iron Overload Low Vision Male Siderophores Tomography, Optical Coherence Vision Disorders Visual Acuity | ||
| 232 (5.0%) |
26233985 |
[Hemolysis and metastatic cancer in an elderly man]. Remes K, Raade M, Karhumaki L, Timonen T, Valimaki MJ. Duodecim. 2015;131(7):671-5. |
| Osteoporosis | ||
| Aged, 80 and over Differential Diagnosis Homo sapiens Male Osteoporotic Fractures Spinal Fractures | ||
| 232 (5.0%) |
25073523 |
Acute parvovirus B19 infection in identical twins unmasking previously unidentified hereditary spherocytosis. Forde DG, Cope A, Stone B. BMJ Case Rep. 2014;2014:. |
| Lethargy | ||
| Acute Disease DNA, Viral Differential Diagnosis Diseases in Twins Homo sapiens Infant, Newborn Male Polymerase Chain Reaction Red Blood Cell Transfusion | ||
| 232 (5.0%) |
18520445 |
Acute encephalopathy with human parvovirus B19 infection in hereditary spherocytosis. Oshima K, Kikuchi A, Mochizuki S, Arai T, Oishi T, Hanada R. Pediatr Infect Dis J. 2008;27(7):651-2. |
| Encephalopathy | ||
| Child DNA, Viral Females Homo sapiens Polymerase Chain Reaction Viral Encephalitis | ||
| 232 (5.0%) |
17949526 |
Stuttering priapism associated with hereditary spherocytosis. Prabhakaran K, Jacobs BL, Smaldone MC, Franks ME. Can J Urol. 2007;14(5):3702-4. |
| Stuttering | ||
| Adult Fibrosis Homo sapiens Male Priapism | ||
| 232 (5.0%) |
17431908 |
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. Marino-Enriquez A, Lapunzina P, Robertson SP, Rodriguez JI. Am J Med Genet A. 2007;143A(10):1120-5. |
| Skeletal dysplasia | ||
| DMD FLNA UTRN | ||
| c|SUB|G|629|T;RS#:137853318 p|SUB|C|210|F;RS#:137853318 rs137853318 |SUB|A|629|G,T | ||
| Amino Acid Sequence Autopsy Bone Diseases, Developmental Contractile Proteins DNA Mutational Analysis Filamins Fingers Genetic Diseases, X-Linked Homo sapiens Male Microfilament Proteins Molecular Sequence Data Palate Point Mutation Sequence Homology, Amino Acid Sibling Syndrome | ||
| 232 (5.0%) |
7767444 |
Isolated weakness of the extensor hallucis longus in a patient with hereditary spherocytosis. Spinner RJ, Orringer EP, Kaplan JG, Nibley CT, Hall RL. Foot Ankle Int. 1995;16(2):100-2. |
| Peripheral neuropathy | ||
| Adult Arthropathy Electrodiagnosis Females Homo sapiens Peripheral Nervous System Diseases Range of Motion, Articular Remission, Spontaneous | ||
| 232 (5.0%) |
1308359 |
Deletion of the proximal short arm of chromosome 8. Stratton RF, Crudo DF, Varela M, Shapira E. Am J Med Genet. 1992;42(1):15-8. |
| Hypogonadism | ||
| Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 8 Cleft Palate Homo sapiens Hypogonadism Infant Male | ||
| 232 (5.0%) |
717924 |
[Nephrotic syndrome and hereditary spherocytosis (author's transl)]. Gimenez Llort A, Camacho Diaz JA, Estella Aguado J, Garcia Garcia L. An Esp Pediatr. 1978;11(8-9):629-32. |
| Nephrotic syndrome | ||
| Females Homo sapiens Infant Kidney Glomerulus Nephrotic Syndrome Splenomegaly |
Total: 27
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0005502 | Increased red cell osmotic fragility | Very frequent (99-80%) |
| HP:0000952 | Jaundice | Frequent (79-30%) |
| HP:0000980 | Pallor | Frequent (79-30%) |
| HP:0001081 | Cholelithiasis | Frequent (79-30%) |
| HP:0001324 | Muscle weakness | Frequent (79-30%) |
| HP:0001744 | Splenomegaly | Frequent (79-30%) |
| HP:0001903 | Anemia | Frequent (79-30%) |
| HP:0001923 | Reticulocytosis | Frequent (79-30%) |
| HP:0002240 | Hepatomegaly | Frequent (79-30%) |
| HP:0002904 | Hyperbilirubinemia | Frequent (79-30%) |
| HP:0004444 | Spherocytosis | Frequent (79-30%) |
| HP:0005525 | Spontaneous hemolytic crises | Frequent (79-30%) |
| HP:0011900 | Hypofibrinogenemia | Frequent (79-30%) |
| HP:0025548 | Increased mean corpuscular hemoglobin concentration | Frequent (79-30%) |
| HP:0100724 | Hypercoagulability | Frequent (79-30%) |
| HP:0001251 | Ataxia | Occasional (29-5%) |
| HP:0001945 | Fever | Occasional (29-5%) |
| HP:0001978 | Extramedullary hematopoiesis | Occasional (29-5%) |
| HP:0002027 | Abdominal pain | Occasional (29-5%) |
| HP:0003326 | Myalgia | Occasional (29-5%) |
| HP:0005130 | obsolete Restrictive heart failure | Occasional (29-5%) |
| HP:0025143 | Chills | Occasional (29-5%) |
| HP:0040186 | Maculopapular exanthema | Occasional (29-5%) |
| HP:0001510 | Growth delay | Very rare (4-1%) |
| HP:0001997 | Gout | Very rare (4-1%) |
| HP:0003270 | Abdominal distention | Very rare (4-1%) |
| HP:0200042 | Skin ulcer | Very rare (4-1%) |
Total: 88
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000952 | Jaundice | 21 |
| HP:0001903 | Anemia | 20 |
| HP:0001744 | Splenomegaly | 19 |
| HP:0001878 | Hemolytic anemia | 15 |
| HP:0001978 | Extramedullary hematopoiesis | 13 |
| HP:0001081 | Cholelithiasis | 7 |
| HP:0002904 | Hyperbilirubinemia | 7 |
| HP:0002027 | Abdominal pain | 5 |
| HP:0001945 | Fever | 4 |
| HP:0004804 | Congenital hemolytic anemia | 4 |
| HP:0001747 | Accessory spleen | 3 |
| HP:0001909 | Leukemia | 3 |
| HP:0010783 | Erythema | 3 |
| HP:0000822 | Hypertension | 2 |
| HP:0001082 | Cholecystitis | 2 |
| HP:0001297 | Stroke | 2 |
| HP:0001638 | Cardiomyopathy | 2 |
| HP:0001873 | Thrombocytopenia | 2 |
| HP:0001894 | Thrombocytosis | 2 |
| HP:0002013 | Vomiting | 2 |
| HP:0002140 | Ischemic stroke | 2 |
| HP:0002202 | Pleural effusion | 2 |
| HP:0002204 | Pulmonary embolism | 2 |
| HP:0004444 | Spherocytosis | 2 |
| HP:0004445 | Elliptocytosis | 2 |
| HP:0004835 | Microspherocytosis | 2 |
| HP:0008282 | Unconjugated hyperbilirubinemia | 2 |
| HP:0011974 | Myelofibrosis | 2 |
| HP:0100806 | Sepsis | 2 |
| HP:0000011 | Neurogenic bladder | 1 |
| HP:0000100 | Nephrotic syndrome | 1 |
| HP:0000112 | Nephropathy | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000143 | Rectovaginal fistula | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000939 | Osteoporosis | 1 |
| HP:0000979 | Purpura | 1 |
| HP:0000989 | Pruritus | 1 |
| HP:0001028 | Hemangioma | 1 |
| HP:0001046 | Intermittent jaundice | 1 |
| HP:0001254 | Lethargy | 1 |
| HP:0001287 | Meningitis | 1 |
| HP:0001350 | Slurred speech | 1 |
| HP:0001394 | Cirrhosis | 1 |
| HP:0001406 | Intrahepatic cholestasis | 1 |
| HP:0001409 | Portal hypertension | 1 |
| HP:0001433 | Hepatosplenomegaly | 1 |
| HP:0001541 | Ascites | 1 |
| HP:0001635 | Congestive heart failure | 1 |
| HP:0001647 | Bicuspid aortic valve | 1 |
| HP:0001648 | Cor pulmonale | 1 |
| HP:0001655 | Patent foramen ovale | 1 |
| HP:0001733 | Pancreatitis | 1 |
| HP:0001876 | Pancytopenia | 1 |
| HP:0001889 | Megaloblastic anemia | 1 |
| HP:0001927 | Acanthocytosis | 1 |
| HP:0001931 | Hypochromic anemia | 1 |
| HP:0001971 | Hypersplenism | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002099 | Asthma | 1 |
| HP:0002148 | Hypophosphatemia | 1 |
| HP:0002301 | Hemiplegia | 1 |
| HP:0002315 | Headache | 1 |
| HP:0002326 | Transient ischemic attack | 1 |
| HP:0002721 | Immunodeficiency | 1 |
| HP:0003265 | Neonatal hyperbilirubinemia | 1 |
| HP:0003756 | Skeletal myopathy | 1 |
| HP:0004870 | Chronic hemolytic anemia | 1 |
| HP:0004936 | Venous thrombosis | 1 |
| HP:0005110 | Atrial fibrillation | 1 |
| HP:0005521 | Disseminated intravascular coagulation | 1 |
| HP:0006846 | Acute encephalopathy | 1 |
| HP:0009830 | Peripheral neuropathy | 1 |
| HP:0012151 | Hemothorax | 1 |
| HP:0012330 | Pyelonephritis | 1 |
| HP:0012378 | Fatigue | 1 |
| HP:0025143 | Chills | 1 |
| HP:0025268 | Stuttering | 1 |
| HP:0030834 | Shoulder pain | 1 |
| HP:0031273 | Shock | 1 |
| HP:0032366 | Positive direct antiglobulin test | 1 |
| HP:0100727 | Histiocytosis | 1 |
| HP:0100749 | Chest pain | 1 |
| HP:0200023 | Priapism | 1 |
| HP:0410019 | Epigastric pain | 1 |
| HP:0410288 | Hyperamylasemia | 1 |
Total: 5