Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
1 (63.9%) |
11764104 |
Lethal hydrops fetalis due to congenital dyserythropoietic anemia in a newborn: association of a new skeletal abnormality. Tekinalp G, Sarici SU, Erdinc AS, Gogus S, Balci S, Gurgey A. Pediatr Hematol Oncol. 2001;18(8):537-42. |
Edema Hepatosplenomegaly Splenomegaly Anemia Anisopoikilocytosis | ||
Differential Diagnosis Fatal Outcome Females Foot Deformities Homo sapiens Hydrops Fetalis Infant, Newborn | ||
2 (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 | ||
3 (56.0%) |
22046097 |
Hypergastrinemia and recurrent type 1 gastric carcinoid in a young Indian male: necessity for antrectomy? Senadhi V, Jani N. World J Gastroenterol. 2011;17(35):4052-4. |
Iron deficiency anemia Gastritis Vitamin B12 deficiency | ||
Adult Carcinoid Tumor Endoscopy, Gastrointestinal Females Gastrectomy Gastrins Homo sapiens India Male Neoplasm Recurrence, Local Stomach Neoplasms | ||
4 (55.1%) |
11669304 |
Autoimmune hemolytic anemia occurring with myelodysplastic syndrome: report of a pediatric case and review of the literature. Oren H, Ucar C, Gulen H, Duman M, Irken G. Ann Hematol. 2001;80(9):540-2. |
Hepatosplenomegaly Poikilocytosis | ||
Females Homo sapiens | ||
5 (55.1%) |
29854527 (5966689) |
Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia. Bhutada E, Pyragius T, Petersen SG, Niemann F, Matsika A. Case Rep Pathol. 2018;2018:2549451. |
Hepatosplenomegaly Anemia Pedal edema | ||
GBA | ||
5 (55.1%) |
11793099 |
Glomerular involvement in myelodysplastic syndromes. Bogdanovic R, Kuzmanovic M, Markovic-Lipkovski J, Ognjanovic M, Micic D, Stankovic I, Stajic N, Nikolic V, Bunjevacki G. Pediatr Nephrol. 2001;16(12):1053-7. |
Proteinuria Hepatosplenomegaly Anemia | ||
Child Females Glucocorticoids Homo sapiens Infant Kidney Glomerulus Nephrotic Syndrome | ||
7 (50.9%) |
14724775 |
[Vitamin B6-sensitive hereditary sideroblastic anemia]. Heller T, Hochstetter V, Basler M, Borck V. Dtsch Med Wochenschr. 2004;129(4):141-4. |
Cirrhosis Splenomegaly Hypochromic anemia | ||
Administration, Oral Adult Bone Marrow Differential Diagnosis Ferritin Genetic Diseases, X-Linked Hematologic Tests Hemoglobin Homo sapiens Iron Chelating Agents Liver Male | ||
8 (50.0%) |
2214193 |
[An erythremia with acquired HbH disease and chromosomal abnormality]. Yoshida N, Horikoshi A, Kanemaru M, Shimada H, Takeuchi J, Ohshima T, Horie T, Tsuchiya T, Kamei K, Ishikawa S, et al.. Rinsho Ketsueki. 1990;31(7):963-8. |
Splenomegaly Anemia | ||
Chromosome Deletion Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 7 Homo sapiens Male Middle Aged Polycythemia Vera Thalassemia | ||
9 (49.7%) |
22310639 |
Severe nonfebrile dengue infection in an adolescent after postoperative kidney transplantation: a case report. Tangnararatchakit K, Tirapanich W, Tapaneya-Olarn W, Sumethkul V, Sirachainan N, Watcharananan S, Leenanupunth C, Yoksan S, Chuansumrit A. Transplant Proc. 2012;44(1):303-6. |
Ascites Increased hemoglobin Anemia Fever | ||
IVNS1ABP | ||
Anemia Antibodies, Viral Dengue Fever Dengue Virus Enzyme-Linked Immunosorbent Assay Females Hematoma Homo sapiens Kidney Failure, Chronic Kidney Transplantation Living Donors Lymphohistiocytosis, Hemophagocytic Pancytopenia Repeat Surgery Reverse Transcriptase Polymerase Chain Reaction Severity of Illness Index Shock Time Factors Viral Nonstructural Proteins | ||
10 (49.1%) |
18447142 |
Cold urticaria and celiac disease. Pedrosa Delgado M, Martin Munoz F, Polanco Allue I, Martin Esteban M. J Investig Allergol Clin Immunol. 2008;18(2):123-5. |
Urticaria Iron deficiency anemia Gluten intolerance | ||
TNFRSF21 | ||
Angioedema Autoantibodies Celiac Disease Child, Preschool Cold Temperature Dermatitis Herpetiformis Homo sapiens Male Urticaria |
Total: 14
HPO ID | Term | Frequency |
---|---|---|
HP:0002863 | Myelodysplasia | Very frequent (99-80%) |
HP:0010972 | Anemia of inadequate production | Very frequent (99-80%) |
HP:0001972 | Macrocytic anemia | Frequent (79-30%) |
HP:0012133 | Erythroid hypoplasia | Frequent (79-30%) |
HP:0012150 | Single lineage myelodysplasia | Frequent (79-30%) |
HP:0012378 | Fatigue | Frequent (79-30%) |
HP:0001895 | Normochromic anemia | Occasional (29-5%) |
HP:0001897 | Normocytic anemia | Occasional (29-5%) |
HP:0002094 | Dyspnea | Occasional (29-5%) |
HP:0005528 | Bone marrow hypocellularity | Occasional (29-5%) |
HP:0030872 | Abnormal cardiac ventricular function | Occasional (29-5%) |
HP:0001873 | Thrombocytopenia | Very rare (4-1%) |
HP:0001875 | Neutropenia | Very rare (4-1%) |
HP:0001892 | Abnormal bleeding | Very rare (4-1%) |
Total: 86
HPO ID | Term | # of case reports |
---|---|---|
HP:0001909 | Leukemia | 24 |
HP:0001876 | Pancytopenia | 18 |
HP:0001873 | Thrombocytopenia | 15 |
HP:0001903 | Anemia | 10 |
HP:0001945 | Fever | 7 |
HP:0002835 | Aspiration | 7 |
HP:0002863 | Myelodysplasia | 7 |
HP:0002488 | Acute leukemia | 6 |
HP:0011974 | Myelofibrosis | 5 |
HP:0001875 | Neutropenia | 4 |
HP:0012133 | Erythroid hypoplasia | 4 |
HP:0001744 | Splenomegaly | 3 |
HP:0001824 | Weight loss | 2 |
HP:0001880 | Eosinophilia | 2 |
HP:0001894 | Thrombocytosis | 2 |
HP:0001913 | Granulocytopenia | 2 |
HP:0001974 | Leukocytosis | 2 |
HP:0002014 | Diarrhea | 2 |
HP:0002027 | Abdominal pain | 2 |
HP:0002039 | Anorexia | 2 |
HP:0010783 | Erythema | 2 |
HP:0012132 | Erythroid hyperplasia | 2 |
HP:0012311 | Monocytosis | 2 |
HP:0012378 | Fatigue | 2 |
HP:0000147 | Polycystic ovaries | 1 |
HP:0000613 | Photophobia | 1 |
HP:0000822 | Hypertension | 1 |
HP:0000979 | Purpura | 1 |
HP:0001019 | Erythroderma | 1 |
HP:0001138 | Optic neuropathy | 1 |
HP:0001266 | Choreoathetosis | 1 |
HP:0001298 | Encephalopathy | 1 |
HP:0001349 | Facial diplegia | 1 |
HP:0001370 | Rheumatoid arthritis | 1 |
HP:0001433 | Hepatosplenomegaly | 1 |
HP:0001541 | Ascites | 1 |
HP:0001640 | Cardiomegaly | 1 |
HP:0001695 | Cardiac arrest | 1 |
HP:0001888 | Lymphopenia | 1 |
HP:0001895 | Normochromic anemia | 1 |
HP:0001923 | Reticulocytosis | 1 |
HP:0001941 | Acidosis | 1 |
HP:0001942 | Metabolic acidosis | 1 |
HP:0001981 | Schistocytosis | 1 |
HP:0002090 | Pneumonia | 1 |
HP:0002157 | Azotemia | 1 |
HP:0002202 | Pleural effusion | 1 |
HP:0002317 | Unsteady gait | 1 |
HP:0002615 | Hypotension | 1 |
HP:0002653 | Bone pain | 1 |
HP:0002664 | Neoplasm | 1 |
HP:0002719 | Recurrent infections | 1 |
HP:0002721 | Immunodeficiency | 1 |
HP:0002754 | Osteomyelitis | 1 |
HP:0002756 | Pathologic fracture | 1 |
HP:0002861 | Melanoma | 1 |
HP:0002878 | Respiratory failure | 1 |
HP:0002904 | Hyperbilirubinemia | 1 |
HP:0003073 | Hypoalbuminemia | 1 |
HP:0003075 | Hypoproteinemia | 1 |
HP:0003326 | Myalgia | 1 |
HP:0003761 | Calcinosis | 1 |
HP:0004418 | Thrombophlebitis | 1 |
HP:0004445 | Elliptocytosis | 1 |
HP:0004810 | Congenital hypoplastic anemia | 1 |
HP:0004861 | Refractory macrocytic anemia | 1 |
HP:0005263 | Gastritis | 1 |
HP:0007634 | Nonarteritic anterior ischemic optic neuropathy | 1 |
HP:0011273 | Anisocytosis | 1 |
HP:0011947 | Respiratory tract infection | 1 |
HP:0012089 | Arteritis | 1 |
HP:0012399 | Pressure ulcer | 1 |
HP:0012735 | Cough | 1 |
HP:0025615 | Abscess | 1 |
HP:0031035 | Chronic infection | 1 |
HP:0031047 | Paraproteinemia | 1 |
HP:0031273 | Shock | 1 |
HP:0031274 | Hypovolemic shock | 1 |
HP:0031625 | Pseudoaneurysm | 1 |
HP:0032252 | Granuloma | 1 |
HP:0100252 | Diaphyseal dysplasia | 1 |
HP:0100732 | Pancreatic fibrosis | 1 |
HP:0100768 | Choriocarcinoma | 1 |
HP:0200034 | Papule | 1 |
HP:0200039 | Pustule | 1 |
HP:0410135 | Cold urticaria | 1 |