| Human Phenotype
Ontology
|
Grandparent Node:
 Abnormal erythrocyte morphology (HP:0001877) | Parent Node:
Abnormal hematocrit (HP:0031850) | ..Starting node
..Increased hematocrit (HP:0001899)
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| Term ID: |
1899 |
| Name: |
Increased hematocrit |
| Synonym: |
Increased Hct |
| Definition: |
An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. |
| Comments: |
|
| Reference: |
HP:0001899 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | ..Reduced hematocrit (HP:0031851)
| | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0001899 | HP:0001899 | Increased hematocrit | 0 | BPGM CL E G H | 669 | 1093 | OMIM:222800 | Erythrocytosis, familial, 8 | | | | 2 | | | | HP:0001899 | HP:0001899 | Increased hematocrit | 0 | EGLN1 CL E G H | 54583 | 1232 | OMIM:609820 | Erythrocytosis, familial, 3 | . | | | 128 | | | | HP:0001899 | HP:0001899 | Increased hematocrit | 0 | EPAS1 CL E G H | 2034 | 3374 | OMIM:611783 | ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4 | | | | 112 | | | | HP:0001899 | HP:0001899 | Increased hematocrit | 0 | EPO CL E G H | 2056 | 3415 | OMIM:617907 | Erythrocytosis, familial, 5 | . | | | 1 | | | | HP:0001899 | HP:0001899 | Increased hematocrit | 0 | HBA1 CL E G H | 3039 | 4823 | OMIM:617981 | ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7 | | | | 200 | | | | HP:0001899 | HP:0001899 | Increased hematocrit | 0 | HBA2 CL E G H | 3040 | 4824 | OMIM:617981 | ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7 | | | | 88 | | | | HP:0001899 | HP:0001899 | Increased hematocrit | 0 | HBB CL E G H | 3043 | 4827 | OMIM:617980 | ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6 | | | | 580 | | | | HP:0001899 | HP:0001899 | Increased hematocrit | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 57 | | | | HP:0001899 | HP:0001899 | Increased hematocrit | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:263300 | Polycythemia vera | . | | | 57 | | | | HP:0001899 | HP:0001899 | Increased hematocrit | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 4 | | | | HP:0001899 | HP:0001899 | Increased hematocrit | 0 | VHL CL E G H | 7428 | 12687 | OMIM:263400 | Erythrocytosis, familial, 2 | . | | | 490 | | |
Genes (10) :BPGM EGLN1 EPAS1 EPO HBA1 HBA2 HBB JAK2 SH2B3 VHL
Diseases (9) :OMIM:222800 OMIM:609820 OMIM:611783 OMIM:617907 OMIM:617981 OMIM:617980 OMIM:133100 OMIM:263300 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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