Human Phenotype Ontology 
Grandparent Node:
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Recurrent infections (HP:0002719)help
Parent Node:
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Recurrent bacterial infections (HP:0002718)help
..Starting node
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Recurrent mycobacterial infections (HP:0011274)help
Term ID: 11274
Name: Recurrent mycobacterial infections
Synonym:
Definition: Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.
Comments:
Reference: HP:0011274
Genes and Diseases:
 
       Child Nodes:
........expandRecurrent mycobacterium avium complex infections (HP:0011275) help

 Sister Nodes: 
..expandRecurrent bacterial skin infections (HP:0005406) help
..expandRecurrent gram-negative bacterial infections (HP:0005420) help
..expandRecurrent staphylococcal infections (HP:0007499) help
..expandRecurrent systemic pyogenic infections (HP:0005429) 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:0011274HP:0011274Recurrent mycobacterial infections0CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional36
HP:0011274HP:0011274Recurrent mycobacterial infections0CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional126
HP:0011274HP:0011274Recurrent mycobacterial infections0CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional182
HP:0011274HP:0011274Recurrent mycobacterial infections0CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional23
HP:0011274HP:0011274Recurrent mycobacterial infections0CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional23
HP:0011274HP:0011274Recurrent mycobacterial infections0CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0011274HP:0011274Recurrent mycobacterial infections0CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0011274HP:0011274Recurrent mycobacterial infections0CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0011274HP:0011274Recurrent mycobacterial infections0CYBB CL E G H15362578OMIM:300645Atypical mycobacteriosis, familial, X-linked 2.111
HP:0011274HP:0011274Recurrent mycobacterial infections0DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiencyHP:0040283 - Occasional94
HP:0011274HP:0011274Recurrent mycobacterial infections0DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional116
HP:0011274HP:0011274Recurrent mycobacterial infections0DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0011274HP:0011274Recurrent mycobacterial infections0DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional78
HP:0011274HP:0011274Recurrent mycobacterial infections0DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional63
HP:0011274HP:0011274Recurrent mycobacterial infections0DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional27
HP:0011274HP:0011274Recurrent mycobacterial infections0DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional62
HP:0011274HP:0011274Recurrent mycobacterial infections0DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0011274HP:0011274Recurrent mycobacterial infections0DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional21
HP:0011274HP:0011274Recurrent mycobacterial infections0DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional542
HP:0011274HP:0011274Recurrent mycobacterial infections0DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional527
HP:0011274HP:0011274Recurrent mycobacterial infections0DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional18
HP:0011274HP:0011274Recurrent mycobacterial infections0DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional73
HP:0011274HP:0011274Recurrent mycobacterial infections0DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional104
HP:0011274HP:0011274Recurrent mycobacterial infections0DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional2
HP:0011274HP:0011274Recurrent mycobacterial infections0DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional167
HP:0011274HP:0011274Recurrent mycobacterial infections0DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional44
HP:0011274HP:0011274Recurrent mycobacterial infections0FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0011274HP:0011274Recurrent mycobacterial infections0GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional1
HP:0011274HP:0011274Recurrent mycobacterial infections0GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional9
HP:0011274HP:0011274Recurrent mycobacterial infections0GATA2 CL E G H26244171OMIM:614172Immunodeficiency 21137
HP:0011274HP:0011274Recurrent mycobacterial infections0HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional21
HP:0011274HP:0011274Recurrent mycobacterial infections0IFNGR1 CL E G H34595439OMIM:615978Immunodeficiency 27B.60
HP:0011274HP:0011274Recurrent mycobacterial infections0IFNGR2 CL E G H34605440OMIM:614889Immunodeficiency 28.38
HP:0011274HP:0011274Recurrent mycobacterial infections0IL12RB1 CL E G H35945971OMIM:614891Immunodeficiency 30.46
HP:0011274HP:0011274Recurrent mycobacterial infections0IL12RB1 CL E G H35945971ORPHA:319552Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiencyHP:0040281 - Very frequent46
HP:0011274HP:0011274Recurrent mycobacterial infections0ISG15 CL E G H96364053OMIM:616126Immunodeficiency 38 with basal ganglia calcification4
HP:0011274HP:0011274Recurrent mycobacterial infections0LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0011274HP:0011274Recurrent mycobacterial infections0MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional13
HP:0011274HP:0011274Recurrent mycobacterial infections0NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0011274HP:0011274Recurrent mycobacterial infections0NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional50
HP:0011274HP:0011274Recurrent mycobacterial infections0ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0011274HP:0011274Recurrent mycobacterial infections0ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0011274HP:0011274Recurrent mycobacterial infections0ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0011274HP:0011274Recurrent mycobacterial infections0ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0011274HP:0011274Recurrent mycobacterial infections0OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional201
HP:0011274HP:0011274Recurrent mycobacterial infections0RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional200
HP:0011274HP:0011274Recurrent mycobacterial infections0RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional31
HP:0011274HP:0011274Recurrent mycobacterial infections0RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional5
HP:0011274HP:0011274Recurrent mycobacterial infections0RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional58
HP:0011274HP:0011274Recurrent mycobacterial infections0RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional20
HP:0011274HP:0011274Recurrent mycobacterial infections0SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional45
HP:0011274HP:0011274Recurrent mycobacterial infections0SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional15
HP:0011274HP:0011274Recurrent mycobacterial infections0STAT1 CL E G H677211362OMIM:613796Mycobacterial and viral infections, susceptibility to, autosomal recessive.89
HP:0011274HP:0011274Recurrent mycobacterial infections0STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional3
HP:0011274HP:0011274Recurrent mycobacterial infections0TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional
HP:0011274HP:0011274Recurrent mycobacterial infections0TYK2 CL E G H729712440OMIM:611521Immunodeficiency 3577
HP:0011274HP:0011274Recurrent mycobacterial infections0ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiencyHP:0040283 - Occasional46
HP:0011274HP:0011274Recurrent mycobacterial infections0ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesiaHP:0040283 - Occasional20
HP:0011274HP:0011275Recurrent mycobacterium avium complex infections1GATA2 CL E G H26244171OMIM:614172Immunodeficiency 21.137
HP:0011274HP:0011275Recurrent mycobacterium avium complex infections1IFNGR1 CL E G H34595439OMIM:615978Immunodeficiency 27B60


Genes (57) :CCDC103 CCDC39 CCDC40 CCDC65 CCNO CFAP221 CFAP298 CFAP300 CYBB DCLRE1C DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FOXJ1 GAS2L2 GAS8 GATA2 HYDIN IFNGR1 IFNGR2 IL12RB1 ISG15 LRRC56 MCIDAS NEK10 NME8 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 SPEF2 STAT1 STK36 TTC12 TYK2 ZAP70 ZMYND10

Diseases (12) :ORPHA:244 OMIM:300645 ORPHA:275 OMIM:614172 OMIM:615978 OMIM:614889 OMIM:614891 ORPHA:319552 OMIM:616126 OMIM:613796 OMIM:611521 ORPHA:911
 

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