Human Phenotype Ontology 
Grandparent Node:
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Abnormality of immune system physiology (HP:0010978)help
Parent Node:
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Recurrent infections (HP:0002719)help
..Starting node
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Recurrent ear infections (HP:0410018)help
Term ID: 410018
Name: Recurrent ear infections
Synonym: Frequent ear infections; Recurrent ear infections
Definition: Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.
Comments:
Reference: HP:0410018
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFailure to thrive secondary to recurrent infections (HP:0008866) help
..expandRecurrent abscess formation (HP:0002722) help
..expandRecurrent bacterial infections (HP:0002718) help
..expandRecurrent fungal infections (HP:0002841) help
..expandRecurrent infection of the gastrointestinal tract (HP:0004798) help
..expandRecurrent infections in infancy and early childhood (HP:0005437) help
..expandRecurrent infections of the middle ear (HP:0040268) help
..expandRecurrent opportunistic infections (HP:0005390) help
..expandRecurrent otitis media (HP:0000403) help
..expandRecurrent parasitic infections (HP:0030885) help
..expandRecurrent protozoan infections (HP:0005386) help
..expandRecurrent respiratory infections (HP:0002205) help
..expandRecurrent urinary tract infections (HP:0000010) help
..expandRecurrent viral infections (HP:0004429) 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:0410018HP:0410018Recurrent ear infections0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040282 - Frequent68
HP:0410018HP:0410018Recurrent ear infections0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent38
HP:0410018HP:0410018Recurrent ear infections0DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR.62
HP:0410018HP:0410018Recurrent ear infections0DDOST CL E G H16502728ORPHA:300536DDOST-CDGHP:0040281 - Very frequent62
HP:0410018HP:0410018Recurrent ear infections0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent79
HP:0410018HP:0410018Recurrent ear infections0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent56
HP:0410018HP:0410018Recurrent ear infections0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040282 - Frequent86
HP:0410018HP:0410018Recurrent ear infections0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040282 - Frequent86
HP:0410018HP:0410018Recurrent ear infections0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0410018HP:0410018Recurrent ear infections0LEP CL E G H39526553OMIM:614962Leptin deficiency or dysfunction.47
HP:0410018HP:0410018Recurrent ear infections0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0410018HP:0410018Recurrent ear infections0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0410018HP:0410018Recurrent ear infections0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0410018HP:0410018Recurrent ear infections0PIK3CD CL E G H52938977OMIM:615513IMMUNODEFICIENCY 14; IMD149
HP:0410018HP:0410018Recurrent ear infections0SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040283 - Occasional49
HP:0410018HP:0410018Recurrent ear infections0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0410018HP:0410018Recurrent ear infections0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent
HP:0410018HP:0410018Recurrent ear infections0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent82
HP:0410018HP:0410018Recurrent ear infections0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7


Genes (16) :ALG12 CLPB DDOST ELANE GFI1 IDS KNSTRN LEP MBD5 ODC1 PIK3CD SP110 SPTBN1 SRP54 TCIRG1 UBE2A

Diseases (14) :ORPHA:79324 ORPHA:486 OMIM:614507 ORPHA:300536 ORPHA:217093 ORPHA:217085 ORPHA:221139 OMIM:614962 OMIM:156200 ORPHA:544488 OMIM:615513 ORPHA:79124 OMIM:619475 ORPHA:163956
 

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