Human Phenotype Ontology 
Grandparent Node:
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Recurrent infections (HP:0002719)help
Parent Node:
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Recurrent fungal infections (HP:0002841)help
..Starting node
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Onychomycosis (HP:0012203)help
Term ID: 12203
Name: Onychomycosis
Synonym:
Definition: A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.
Comments:
Reference: HP:0012203
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChronic mucocutaneous candidiasis (HP:0002728) help
..expandRecurrent Aspergillus infections (HP:0002724) help
..expandRecurrent candida infections (HP:0005401) help
..expandRecurrent interdigital mycosis (HP:0025351) help
..expandRecurrent plantar mycosis (HP:0025472) 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:0012203HP:0012203Onychomycosis0ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial168
HP:0012203HP:0012203Onychomycosis0CARD9 CL E G H6417016391OMIM:212050Candidiasis, familial chronic mucocutaneous, autosomal recessive45
HP:0012203HP:0012203Onychomycosis0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0012203HP:0012203Onychomycosis0CLEC7A CL E G H6458114558OMIM:613108CANDIDIASIS, FAMILIAL, 4; CANDF43
HP:0012203HP:0012203Onychomycosis0CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0012203HP:0012203Onychomycosis0DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiencyHP:0040281 - Very frequent217
HP:0012203HP:0012203Onychomycosis0HPGD CL E G H32485154ORPHA:217059Isolated congenital digital clubbing55
HP:0012203HP:0012203Onychomycosis0IL12A CL E G H35925969ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0012203HP:0012203Onychomycosis0IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent46
HP:0012203HP:0012203Onychomycosis0IL17RC CL E G H8481818358OMIM:616445Candidiasis, familial, 9.4
HP:0012203HP:0012203Onychomycosis0IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent4
HP:0012203HP:0012203Onychomycosis0KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratodermaHP:0040282 - Frequent100
HP:0012203HP:0012203Onychomycosis0MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0012203HP:0012203Onychomycosis0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0012203HP:0012203Onychomycosis0PLCG2 CL E G H53369066OMIM:614468FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS321
HP:0012203HP:0012203Onychomycosis0POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0012203HP:0012203Onychomycosis0SDR9C7 CL E G H12121429958OMIM:617574Ichthyosis, congenital, autosomal recessive 13.2
HP:0012203HP:0012203Onychomycosis0SPIB CL E G H668911242ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0012203HP:0012203Onychomycosis0STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31C89
HP:0012203HP:0012203Onychomycosis0TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0012203HP:0012203Onychomycosis0TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent71
HP:0012203HP:0012203Onychomycosis0TRAF3IP2 CL E G H107581343OMIM:615527Candidiasis, familial, 8.4


Genes (22) :ATR CARD9 CARMIL2 CLEC7A CYBC1 DOCK8 HPGD IL12A IL12RB1 IL17RC IRF5 KRT1 MMEL1 NFKB2 PLCG2 POU2AF1 SDR9C7 SPIB STAT1 TNFSF15 TNPO3 TRAF3IP2

Diseases (15) :OMIM:614564 OMIM:212050 OMIM:618131 OMIM:613108 OMIM:618935 ORPHA:217390 ORPHA:217059 ORPHA:186 OMIM:616445 ORPHA:530838 OMIM:615577 OMIM:614468 OMIM:617574 OMIM:614162 OMIM:615527
 

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