Human Phenotype Ontology 
Grandparent Node:
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Abnormal leukocyte morphology (HP:0001881)help
Parent Node:
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Abnormal leukocyte count (HP:0011893)help
Parent Node:
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Abnormal monocyte morphology (HP:0012144)help
..Starting node
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Abnormal monocyte count (HP:0012310)help
Term ID: 12310
Name: Abnormal monocyte count
Synonym: Abnormal monocyte number
Definition: An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.
Comments:
Reference: HP:0012310
Genes and Diseases:
 
       Child Nodes:
........expandMonocytosis (HP:0012311) help
........expandMonocytopenia (HP:0012312) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012310HP:0012310Abnormal monocyte count0CARD11 CL E G H8443316393OMIM:615206Card11 immunodeficiency45
HP:0012310HP:0012310Abnormal monocyte count0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropenia38
HP:0012310HP:0012310Abnormal monocyte count0DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to23
HP:0012310HP:0012310Abnormal monocyte count0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropenia79
HP:0012310HP:0012310Abnormal monocyte count0ELANE CL E G H19913309OMIM:202700Neutropenia, severe congenital, 1, autosomal dominant79
HP:0012310HP:0012310Abnormal monocyte count0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0012310HP:0012310Abnormal monocyte count0GATA2 CL E G H26244171OMIM:614172Immunodeficiency 21137
HP:0012310HP:0012310Abnormal monocyte count0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropenia56
HP:0012310HP:0012310Abnormal monocyte count0GFI1 CL E G H26724237OMIM:613107Neutropenia, severe congenital, 2, autosomal dominant56
HP:0012310HP:0012310Abnormal monocyte count0IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B5
HP:0012310HP:0012310Abnormal monocyte count0KRAS CL E G H38456407OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic196
HP:0012310HP:0012310Abnormal monocyte count0NRAS CL E G H48937989OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic102
HP:0012310HP:0012310Abnormal monocyte count0PIK3CD CL E G H52938977OMIM:619281IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B9
HP:0012310HP:0012310Abnormal monocyte count0PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0012310HP:0012310Abnormal monocyte count0RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0012310HP:0012310Abnormal monocyte count0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropenia
HP:0012310HP:0012310Abnormal monocyte count0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropenia82
HP:0012310HP:0012310Abnormal monocyte count0WAS CL E G H745412731OMIM:300299Neutropenia, severe congenital, X-linked65
HP:0012310HP:0012310Abnormal monocyte count0WAS CL E G H745412731ORPHA:86788X-linked severe congenital neutropenia65
HP:0012310HP:0012310Abnormal monocyte count0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0012310HP:0012312Monocytopenia1CARD11 CL E G H8443316393OMIM:615206Card11 immunodeficiency45
HP:0012310HP:0012311Monocytosis1CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent38
HP:0012310HP:0012311Monocytosis1DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to23
HP:0012310HP:0012311Monocytosis1ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent79
HP:0012310HP:0012311Monocytosis1ELANE CL E G H19913309OMIM:202700Neutropenia, severe congenital, 1, autosomal dominant.79
HP:0012310HP:0012311Monocytosis1G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0012310HP:0012312Monocytopenia1GATA2 CL E G H26244171OMIM:614172Immunodeficiency 21.137
HP:0012310HP:0012311Monocytosis1GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent56
HP:0012310HP:0012311Monocytosis1GFI1 CL E G H26724237OMIM:613107Neutropenia, severe congenital, 2, autosomal dominant.56
HP:0012310HP:0012312Monocytopenia1IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B5
HP:0012310HP:0012311Monocytosis1KRAS CL E G H38456407OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.196
HP:0012310HP:0012311Monocytosis1NRAS CL E G H48937989OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.102
HP:0012310HP:0012311Monocytosis1PIK3CD CL E G H52938977OMIM:619281IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B9
HP:0012310HP:0012312Monocytopenia1PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0012310HP:0012312Monocytopenia1RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0012310HP:0012311Monocytosis1SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent
HP:0012310HP:0012311Monocytosis1TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent82
HP:0012310HP:0012312Monocytopenia1WAS CL E G H745412731OMIM:300299Neutropenia, severe congenital, X-linked65
HP:0012310HP:0012312Monocytopenia1WAS CL E G H745412731ORPHA:86788X-linked severe congenital neutropeniaHP:0040281 - Very frequent65
HP:0012310HP:0012311Monocytosis1ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91


Genes (17) :CARD11 CLPB DDX41 ELANE G6PC3 GATA2 GFI1 IRF8 KRAS NRAS PIK3CD PIK3CG RAC2 SRP54 TCIRG1 WAS ZNFX1

Diseases (15) :OMIM:615206 ORPHA:486 OMIM:616871 OMIM:202700 OMIM:612541 OMIM:614172 OMIM:613107 OMIM:226990 OMIM:614470 OMIM:619281 OMIM:619802 OMIM:618986 OMIM:300299 ORPHA:86788 OMIM:619644
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.