Human Phenotype
Ontology
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Grandparent Node: Abnormality of blood and blood-forming tissues (HP:0001871) | Parent Node: Abnormal erythrocyte morphology (HP:0001877) | ..Starting node ..Abnormal hematocrit (HP:0031850)
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Term ID: |
31850 |
Name: |
Abnormal hematocrit |
Synonym: |
Abnormal Hct |
Definition: |
Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood. |
Comments: |
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Reference: |
HP:0031850 |
Genes and Diseases: | | Child Nodes: | ........Increased hematocrit (HP:0001899) | ........Reduced hematocrit (HP:0031851) | Sister Nodes: | ..Abnormal erythrocyte enzyme level (HP:0030272)
| ..Abnormal hemoglobin (HP:0011902)
| ..Abnormal mean corpuscular volume (HP:0025065)
| ..Abnormal number of erythroid precursors (HP:0012131)
| ..Abnormal reticulocyte morphology (HP:0004312)
| ..Anemia (HP:0001903)
| ..Anisocytosis (HP:0011273)
| ..Blood group antigen abnormality (HP:0010970)
| ..Dysplastic erythropoesis (HP:0012134)
| ..Increased hemoglobin oxygen affinity (HP:0004825)
| ..Increased red cell osmotic fragility (HP:0005502)
| ..Increased red cell osmotic resistance (HP:0005546)
| ..Poikilocytosis (HP:0004447)
| ..Polycythemia (HP:0001901)
| ..Reduced erythrocyte 2,3-diphosphoglycerate concentration (HP:0030271)
| ..Rouleaux formation (HP:0031898)
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0031850 | HP:0031850 | Abnormal hematocrit | 0 | BPGM CL E G H | 669 | 1093 | OMIM:222800 | Erythrocytosis, familial, 8 | | | | 2 | | | HP:0031850 | HP:0031850 | Abnormal hematocrit | 0 | EGLN1 CL E G H | 54583 | 1232 | OMIM:609820 | Erythrocytosis, familial, 3 | | | | 128 | | | HP:0031850 | HP:0031850 | Abnormal hematocrit | 0 | EPAS1 CL E G H | 2034 | 3374 | OMIM:611783 | ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4 | | | | 112 | | | HP:0031850 | HP:0031850 | Abnormal hematocrit | 0 | EPO CL E G H | 2056 | 3415 | OMIM:617907 | Erythrocytosis, familial, 5 | | | | 1 | | | HP:0031850 | HP:0031850 | Abnormal hematocrit | 0 | HBA1 CL E G H | 3039 | 4823 | OMIM:617981 | ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7 | | | | 200 | | | HP:0031850 | HP:0031850 | Abnormal hematocrit | 0 | HBA2 CL E G H | 3040 | 4824 | OMIM:617981 | ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7 | | | | 88 | | | HP:0031850 | HP:0031850 | Abnormal hematocrit | 0 | HBB CL E G H | 3043 | 4827 | OMIM:617980 | ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6 | | | | 580 | | | HP:0031850 | HP:0031850 | Abnormal hematocrit | 0 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | | HP:0031850 | HP:0031850 | Abnormal hematocrit | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:133100 | Erythrocytosis, familial, 1 | | | | 57 | | | HP:0031850 | HP:0031850 | Abnormal hematocrit | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:263300 | Polycythemia vera | | | | 57 | | | HP:0031850 | HP:0031850 | Abnormal hematocrit | 0 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | | | | 42 | | | HP:0031850 | HP:0031850 | Abnormal hematocrit | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:133100 | Erythrocytosis, familial, 1 | | | | 4 | | | HP:0031850 | HP:0031850 | Abnormal hematocrit | 0 | VHL CL E G H | 7428 | 12687 | OMIM:263400 | Erythrocytosis, familial, 2 | | | | 490 | | | HP:0031850 | HP:0001899 | Increased hematocrit | 1 | BPGM CL E G H | 669 | 1093 | OMIM:222800 | Erythrocytosis, familial, 8 | | | | 2 | | | HP:0031850 | HP:0001899 | Increased hematocrit | 1 | EGLN1 CL E G H | 54583 | 1232 | OMIM:609820 | Erythrocytosis, familial, 3 | . | | | 128 | | | HP:0031850 | HP:0001899 | Increased hematocrit | 1 | EPAS1 CL E G H | 2034 | 3374 | OMIM:611783 | ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4 | | | | 112 | | | HP:0031850 | HP:0001899 | Increased hematocrit | 1 | EPO CL E G H | 2056 | 3415 | OMIM:617907 | Erythrocytosis, familial, 5 | . | | | 1 | | | HP:0031850 | HP:0001899 | Increased hematocrit | 1 | HBA1 CL E G H | 3039 | 4823 | OMIM:617981 | ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7 | | | | 200 | | | HP:0031850 | HP:0001899 | Increased hematocrit | 1 | HBA2 CL E G H | 3040 | 4824 | OMIM:617981 | ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7 | | | | 88 | | | HP:0031850 | HP:0001899 | Increased hematocrit | 1 | HBB CL E G H | 3043 | 4827 | OMIM:617980 | ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6 | | | | 580 | | | HP:0031850 | HP:0031851 | Reduced hematocrit | 1 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | | HP:0031850 | HP:0001899 | Increased hematocrit | 1 | JAK2 CL E G H | 3717 | 6192 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 57 | | | HP:0031850 | HP:0001899 | Increased hematocrit | 1 | JAK2 CL E G H | 3717 | 6192 | OMIM:263300 | Polycythemia vera | . | | | 57 | | | HP:0031850 | HP:0031851 | Reduced hematocrit | 1 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | | | | 42 | | | HP:0031850 | HP:0001899 | Increased hematocrit | 1 | SH2B3 CL E G H | 10019 | 29605 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 4 | | | HP:0031850 | HP:0001899 | Increased hematocrit | 1 | VHL CL E G H | 7428 | 12687 | OMIM:263400 | Erythrocytosis, familial, 2 | . | | | 490 | | |
Genes (12) :BPGM EGLN1 EPAS1 EPO HBA1 HBA2 HBB HSCB JAK2 KLF1 SH2B3 VHL
Diseases (11) :OMIM:222800 OMIM:609820 OMIM:611783 OMIM:617907 OMIM:617981 OMIM:617980 OMIM:619523 OMIM:133100 OMIM:263300 OMIM:613673 OMIM:263400 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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