Human Phenotype
Ontology
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Grandparent Node: Abnormal myeloid leukocyte morphology (HP:0010974) | Parent Node: Abnormal granulocyte morphology (HP:0001911) | ..Starting node ..Granulocytopenia (HP:0001913)
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Term ID: |
1913 |
Name: |
Granulocytopenia |
Synonym: |
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Definition: |
An abnormally reduced number of granulocytes in the blood. |
Comments: |
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Reference: |
HP:0001913 |
Genes and Diseases: | | Child Nodes: | ........Agranulocytosis (HP:0012234) ................... HP:0005541 Congenital agranulocytosis ................... HP:0012235 Drug-induced agranulocytosis | Sister Nodes: | ..Abnormal basophil morphology (HP:0001912)
| ..Abnormal eosinophil morphology (HP:0001879)
| ..Abnormality of neutrophils (HP:0001874)
| 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:0001913 | HP:0001913 | Granulocytopenia | 0 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | | HP:0001913 | HP:0001913 | Granulocytopenia | 0 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | | | | 79 | | | HP:0001913 | HP:0001913 | Granulocytopenia | 0 | RPS28 CL E G H | 6234 | 10418 | OMIM:606164 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | . | | | 1 | | | HP:0001913 | HP:0001913 | Granulocytopenia | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040284 - Very rare | | | 19 | | | HP:0001913 | HP:0001913 | Granulocytopenia | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | . | | | | | | HP:0001913 | HP:0001913 | Granulocytopenia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040284 - Very rare | | | 3 | | | HP:0001913 | HP:0001913 | Granulocytopenia | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | | HP:0001913 | HP:0001913 | Granulocytopenia | 0 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | | HP:0001913 | HP:0012234 | Agranulocytosis | 1 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | | HP:0001913 | HP:0012234 | Agranulocytosis | 1 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | | | | 79 | | | HP:0001913 | HP:0012234 | Agranulocytosis | 1 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | | HP:0001913 | HP:0012235 | Drug-induced agranulocytosis | 2 | CL E G H | | | | | | | | | | | HP:0001913 | HP:0005541 | Congenital agranulocytosis | 2 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | | HP:0001913 | HP:0005541 | Congenital agranulocytosis | 2 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | . | | | 79 | | |
Genes (8) :AK2 ELANE RPS28 SF3B1 TAFAZZIN TET2 TLR8 UNC13D
Diseases (7) :OMIM:267500 OMIM:202700 OMIM:606164 ORPHA:75564 OMIM:302060 OMIM:301078 OMIM:608898 |
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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