Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
19 (56.4%) |
20618221 |
Orthotopic heart transplantation in a child with hereditary spherocytosis. Johnson CE, Schmitz ML, McKamie WA, Edens RE, Imamura M, Jaquiss RD. Artif Organs. 2010;34(12):1154-6. |
Jaundice Splenomegaly Hemolytic anemia | ||
Child Heart Transplantation Hematologic Tests Homo sapiens Male | ||
19 (56.4%) |
19740448 (2753340) |
Complications of Evans' syndrome in an infant with hereditary spherocytosis: a case report. Yoshida H, Ishida H, Yoshihara T, Oyamada T, Kuwana M, Imamura T, Morimoto A. J Hematol Oncol. 2009;2:40. |
Jaundice Splenomegaly Anemia | ||
Homo sapiens Infant Male Syndrome | ||
19 (56.4%) |
14686490 |
Dominant beta-thalassemia with hemoglobin Hradec Kralove: enhanced hemolysis in the spleen. Ohga S, Nomura A, Takada H, Kato J, Ideguchi H, Hattori Y, Suda M, Suita S, Hara T. Int J Hematol. 2003;78(4):329-34. |
Jaundice Splenomegaly Microcytic anemia | ||
p|SUB|GCC,A|115|GAC | ||
Abnormal Hemoglobins Adult Anemia, Hemolytic Child Females Homo sapiens Spleen Splenectomy beta Thalassemia | ||
19 (56.4%) |
8925755 |
[Hemolytic anemia as cause of a marked bilirubin increase in primary biliary cirrhosis]. Mahl MA, von Schonfeld J, Uppenkamp M, Breuer N. Dtsch Med Wochenschr. 1996;121(40):1226-8. |
Jaundice Splenomegaly Hemolytic anemia | ||
HP | ||
Alkaline Phosphatase Anemia, Hemolytic Differential Diagnosis Females Homo sapiens Hyperbilirubinemia Middle Aged | ||
25 (56.2%) |
29505016 (5779785) |
Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family. Shin S, Jang W, Kim M, Kim Y, Park SY, Park J, Yang YJ. Medicine (Baltimore). 2018;97(3):e9677. |
Splenomegaly Hemolytic anemia Hyperbilirubinemia | ||
c|SUB|G|1956|A p|SUB|W|652|* | ||
Asians Codon, Nonsense Females Homo sapiens Spectrin | ||
25 (56.2%) |
20924216 (3304593) |
A case of concomitant Gilbert's syndrome and hereditary spherocytosis. Lee HJ, Moon HS, Lee ES, Kim SH, Sung JK, Lee BS, Jeong HY, Lee HY, Eu YJ. Korean J Hepatol. 2010;16(3):321-4. |
Splenomegaly Anemia Hyperbilirubinemia | ||
UGT1A1 | ||
c|SUB|G|211|A;RS#:4148323 c|SUB|T|-3279|G | ||
Adult Alleles Ankyrins Glucuronosyltransferase Heterozygote Homo sapiens Male Mutation Polyacrylamide Gel Electrophoresis Sequence Analysis, DNA Splenomegaly Tertiary Protein Structure | ||
25 (56.2%) |
2545942 |
[Hereditary spherocytosis first diagnosed upon the development of aplastic crisis; a case report]. Aonuma K, Morohashi F, Nakahata T, Komiyama A, Akabane T. Rinsho Ketsueki. 1989;30(2):266-70. |
Splenomegaly Anemia Fever | ||
Aplastic Anemia Child Homo sapiens Male | ||
28 (56.0%) |
23624969 |
A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: a rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency. Yaish HM, Christensen RD, Agarwal A. J Perinatol. 2013;33(5):404-6. |
Jaundice Spherocytosis | ||
Coombs Test Erythrocyte Indices Homo sapiens Icterus Infant, Newborn Male Spectrin Spherocytes | ||
28 (56.0%) |
22993492 |
Hereditary spherocytosis in a malay patient with chronic haemolysis. Sheikh MK, Yusoff NM, Kaur G, Khan FA. Malays J Med Sci. 2007;14(2):54-7. |
Jaundice Spherocytosis | ||
30 (55.8%) |
20932387 (3043586) |
Single incision laparoscopic splenectomy in a 5-year-old with hereditary spherocytosis. Hansen EN, Muensterer OJ. JSLS. 2010;14(2):286-8. |
Anemia Hypersplenism Spherocytosis | ||
Child, Preschool Homo sapiens Laparoscopy Male Splenectomy |
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