Human Phenotype Ontology 
Grandparent Node:
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Abnormality of blood and blood-forming tissues (HP:0001871)help
Parent Node:
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Abnormal erythrocyte morphology (HP:0001877)help
..Starting node
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Abnormal hematocrit (HP:0031850)help
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:
Reference: HP:0031850
Genes and Diseases:
 
       Child Nodes:
........expandIncreased hematocrit (HP:0001899) help
........expandReduced hematocrit (HP:0031851) help

 Sister Nodes: 
..expandAbnormal erythrocyte enzyme level (HP:0030272) help
..expandAbnormal hemoglobin (HP:0011902) help
..expandAbnormal mean corpuscular volume (HP:0025065) help
..expandAbnormal number of erythroid precursors (HP:0012131) help
..expandAbnormal reticulocyte morphology (HP:0004312) help
..expandAnemia (HP:0001903) help
..expandAnisocytosis (HP:0011273) help
..expandBlood group antigen abnormality (HP:0010970) help
..expandDysplastic erythropoesis (HP:0012134) help
..expandIncreased hemoglobin oxygen affinity (HP:0004825) help
..expandIncreased red cell osmotic fragility (HP:0005502) help
..expandIncreased red cell osmotic resistance (HP:0005546) help
..expandPoikilocytosis (HP:0004447) help
..expandPolycythemia (HP:0001901) help
..expandReduced erythrocyte 2,3-diphosphoglycerate concentration (HP:0030271) help
..expandRouleaux formation (HP:0031898) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031850HP:0031850Abnormal hematocrit0BPGM CL E G H6691093OMIM:222800Erythrocytosis, familial, 82
HP:0031850HP:0031850Abnormal hematocrit0EGLN1 CL E G H545831232OMIM:609820Erythrocytosis, familial, 3128
HP:0031850HP:0031850Abnormal hematocrit0EPAS1 CL E G H20343374OMIM:611783ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4112
HP:0031850HP:0031850Abnormal hematocrit0EPO CL E G H20563415OMIM:617907Erythrocytosis, familial, 51
HP:0031850HP:0031850Abnormal hematocrit0HBA1 CL E G H30394823OMIM:617981ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7200
HP:0031850HP:0031850Abnormal hematocrit0HBA2 CL E G H30404824OMIM:617981ERYTHROCYTOSIS, FAMILIAL, 7; ECYT788
HP:0031850HP:0031850Abnormal hematocrit0HBB CL E G H30434827OMIM:617980ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6580
HP:0031850HP:0031850Abnormal hematocrit0HSCB CL E G H15027428913OMIM:619523ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0031850HP:0031850Abnormal hematocrit0JAK2 CL E G H37176192OMIM:133100Erythrocytosis, familial, 157
HP:0031850HP:0031850Abnormal hematocrit0JAK2 CL E G H37176192OMIM:263300Polycythemia vera57
HP:0031850HP:0031850Abnormal hematocrit0KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV42
HP:0031850HP:0031850Abnormal hematocrit0SH2B3 CL E G H1001929605OMIM:133100Erythrocytosis, familial, 14
HP:0031850HP:0031850Abnormal hematocrit0VHL CL E G H742812687OMIM:263400Erythrocytosis, familial, 2490
HP:0031850HP:0001899Increased hematocrit1BPGM CL E G H6691093OMIM:222800Erythrocytosis, familial, 82
HP:0031850HP:0001899Increased hematocrit1EGLN1 CL E G H545831232OMIM:609820Erythrocytosis, familial, 3.128
HP:0031850HP:0001899Increased hematocrit1EPAS1 CL E G H20343374OMIM:611783ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4112
HP:0031850HP:0001899Increased hematocrit1EPO CL E G H20563415OMIM:617907Erythrocytosis, familial, 5.1
HP:0031850HP:0001899Increased hematocrit1HBA1 CL E G H30394823OMIM:617981ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7200
HP:0031850HP:0001899Increased hematocrit1HBA2 CL E G H30404824OMIM:617981ERYTHROCYTOSIS, FAMILIAL, 7; ECYT788
HP:0031850HP:0001899Increased hematocrit1HBB CL E G H30434827OMIM:617980ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6580
HP:0031850HP:0031851Reduced hematocrit1HSCB CL E G H15027428913OMIM:619523ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0031850HP:0001899Increased hematocrit1JAK2 CL E G H37176192OMIM:133100Erythrocytosis, familial, 1.57
HP:0031850HP:0001899Increased hematocrit1JAK2 CL E G H37176192OMIM:263300Polycythemia vera.57
HP:0031850HP:0031851Reduced hematocrit1KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV42
HP:0031850HP:0001899Increased hematocrit1SH2B3 CL E G H1001929605OMIM:133100Erythrocytosis, familial, 1.4
HP:0031850HP:0001899Increased hematocrit1VHL CL E G H742812687OMIM:263400Erythrocytosis, 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.