Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the nail (HP:0001597)help
Parent Node:
expand
Abnormal toenail morphology (HP:0008388)help
Parent Node:
expand
Nail dystrophy (HP:0008404)help
..Starting node
..expand
Dystrophic toenail (HP:0001810)help
Term ID: 1810
Name: Dystrophic toenail
Synonym: Dystrophic toenail changes; Dystrophic toenails; Poor toenail formation
Definition: Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.
Comments:
Reference: HP:0001810
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCentral nail canal (HP:0030818) help
..expandDystrophic fingernails (HP:0008391) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001810HP:0001810Dystrophic toenail0COL7A1 CL E G H1294158676ORPHA120282214120120
HP:0001810HP:0001810Dystrophic toenail0COL7A1 CL E G H1294158676ORPHA116582214120120
HP:0001810HP:0001810Dystrophic toenail0COL7A1 CL E G H129479410ORPHA120282214120120
HP:0001810HP:0001810Dystrophic toenail0COL7A1 CL E G H129479410ORPHA116582214120120
HP:0001810HP:0001810Dystrophic toenail0GJB2 CL E G H2706477ORPHA14824284121011
HP:0001810HP:0001810Dystrophic toenail0GJB2 CL E G H2706477ORPHA14604284121011
HP:0001810HP:0001810Dystrophic toenail0GJB6 CL E G H10804477ORPHA12234288604418
HP:0001810HP:0001810Dystrophic toenail0GJB6 CL E G H10804477ORPHA12144288604418
HP:0001810HP:0001810Dystrophic toenail0KIF1A CL E G H547970ORPHA11735888601255
HP:0001810HP:0001810Dystrophic toenail0KIF1A CL E G H547970ORPHA11441888601255
HP:0001810HP:0001810Dystrophic toenail0KLHL24 CL E G H54800617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss617294C4310631OMIM17425947611295
HP:0001810HP:0001810Dystrophic toenail0KLHL24 CL E G H54800617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss617294C4310631OMIM17325947611295
HP:0001810HP:0001810Dystrophic toenail0KRT14 CL E G H386169087ORPHA11556416148066
HP:0001810HP:0001810Dystrophic toenail0KRT14 CL E G H386169087ORPHA11486416148066
HP:0001810HP:0001810Dystrophic toenail0KRT74 CL E G H121391614929Ectodermal dysplasia 7, hair/nail type614929C3554117OMIM18528929608248
HP:0001810HP:0001810Dystrophic toenail0NECTIN1 CL E G H58183253Limb dystoniaORPHA12079706600644
HP:0001810HP:0001810Dystrophic toenail0NECTIN1 CL E G H58183253Limb dystoniaORPHA11999706600644
HP:0001810HP:0001810Dystrophic toenail0NOTCH1 CL E G H4851616028Adams-Oliver syndrome 5616028C4014970OMIM121587881190198
HP:0001810HP:0001810Dystrophic toenail0NOTCH1 CL E G H4851616028Adams-Oliver syndrome 5616028C4014970OMIM119337881190198
HP:0001810HP:0001810Dystrophic toenail0RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11659788602298
HP:0001810HP:0001810Dystrophic toenail0RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11559788602298
HP:0001810HP:0001810Dystrophic toenail0RETREG1 CL E G H54463970ORPHA141625964613114
HP:0001810HP:0001810Dystrophic toenail0RETREG1 CL E G H54463970ORPHA136825964613114
HP:0001810HP:0001810Dystrophic toenail0SCN9A CL E G H6335970ORPHA1170810597603415
HP:0001810HP:0001810Dystrophic toenail0SCN9A CL E G H6335970ORPHA1143810597603415
HP:0001810HP:0001810Dystrophic toenail0SMARCE1 CL E G H6605616938Coffin-Siris syndrome 5616938C4310788OMIM150111109603111
HP:0001810HP:0001810Dystrophic toenail0SMARCE1 CL E G H6605616938Coffin-Siris syndrome 5616938C4310788OMIM141811109603111
HP:0001810HP:0001810Dystrophic toenail0TP63 CL E G H86261071ORPHA144415979603273
HP:0001810HP:0001810Dystrophic toenail0TP63 CL E G H86261071ORPHA137615979603273
HP:0001810HP:0001810Dystrophic toenail0WNK1 CL E G H65125970ORPHA1125814540605232
HP:0001810HP:0001810Dystrophic toenail0WNK1 CL E G H65125970ORPHA1109614540605232
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001810HP:0001810Dystrophic toenail0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03375961300248
HP:0001810HP:0001810Dystrophic toenail0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03265961300248
HP:0001810HP:0001810Dystrophic toenail0RUNX2 CL E G H8601452ORPHA033310472600211
HP:0001810HP:0001810Dystrophic toenail0RUNX2 CL E G H8601452ORPHA026510472600211
HP:0001810HP:0001810Dystrophic toenail0WNT10A CL E G H80326257980Odontoonychodermal dysplasia257980C0796093OMIM029113829606268
HP:0001810HP:0001810Dystrophic toenail0WNT10A CL E G H80326257980Odontoonychodermal dysplasia257980C0796093OMIM030913829606268


Genes (18) :COL7A1 GJB2 GJB6 IKBKG KIF1A KLHL24 KRT14 KRT74 NECTIN1 NOTCH1 RAB7A RETREG1 RUNX2 SCN9A SMARCE1 TP63 WNK1 WNT10A

Diseases (15) :79410 158676 477 464 970 617294 69087 614929 3253 616028 600882 1452 616938 1071 257980
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.