Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nail (HP:0001597)help
Parent Node:
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Abnormal fingernail morphology (HP:0001231)help
Parent Node:
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Nail dystrophy (HP:0008404)help
..Starting node
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Dystrophic fingernails (HP:0008391)help
Term ID: 8391
Name: Dystrophic fingernails
Synonym: Poor fingernail formation
Definition: The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.
Comments:
Reference: HP:0008391
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCentral nail canal (HP:0030818) help
..expandDystrophic toenail (HP:0001810) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0008391HP:0008391Dystrophic fingernails0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0008391HP:0008391Dystrophic fingernails0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0008391HP:0008391Dystrophic fingernails0COL7A1 CL E G H129479410ORPHA120282214120120
HP:0008391HP:0008391Dystrophic fingernails0COL7A1 CL E G H129479410ORPHA116582214120120
HP:0008391HP:0008391Dystrophic fingernails0GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM11914274121014
HP:0008391HP:0008391Dystrophic fingernails0GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM11694274121014
HP:0008391HP:0008391Dystrophic fingernails0GJB2 CL E G H2706477ORPHA14604284121011
HP:0008391HP:0008391Dystrophic fingernails0GJB2 CL E G H2706477ORPHA14824284121011
HP:0008391HP:0008391Dystrophic fingernails0GJB6 CL E G H10804477ORPHA12234288604418
HP:0008391HP:0008391Dystrophic fingernails0GJB6 CL E G H10804477ORPHA12144288604418
HP:0008391HP:0008391Dystrophic fingernails0KIF1A CL E G H547970ORPHA11441888601255
HP:0008391HP:0008391Dystrophic fingernails0KIF1A CL E G H547970ORPHA11735888601255
HP:0008391HP:0008391Dystrophic fingernails0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13316407190070
HP:0008391HP:0008391Dystrophic fingernails0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13416407190070
HP:0008391HP:0008391Dystrophic fingernails0KRT14 CL E G H386169087ORPHA11486416148066
HP:0008391HP:0008391Dystrophic fingernails0KRT14 CL E G H386169087ORPHA11556416148066
HP:0008391HP:0008391Dystrophic fingernails0KRT74 CL E G H121391614929Ectodermal dysplasia 7, hair/nail type614929C3554117OMIM18528929608248
HP:0008391HP:0008391Dystrophic fingernails0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13366840176872
HP:0008391HP:0008391Dystrophic fingernails0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13066840176872
HP:0008391HP:0008391Dystrophic fingernails0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA14526842601263
HP:0008391HP:0008391Dystrophic fingernails0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15156842601263
HP:0008391HP:0008391Dystrophic fingernails0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM124215455300294
HP:0008391HP:0008391Dystrophic fingernails0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM123115455300294
HP:0008391HP:0008391Dystrophic fingernails0NECTIN1 CL E G H58183253Limb dystoniaORPHA12079706600644
HP:0008391HP:0008391Dystrophic fingernails0NECTIN1 CL E G H58183253Limb dystoniaORPHA11999706600644
HP:0008391HP:0008391Dystrophic fingernails0RETREG1 CL E G H54463970ORPHA141625964613114
HP:0008391HP:0008391Dystrophic fingernails0RETREG1 CL E G H54463970ORPHA136825964613114
HP:0008391HP:0008391Dystrophic fingernails0SCN9A CL E G H6335970ORPHA1143810597603415
HP:0008391HP:0008391Dystrophic fingernails0SCN9A CL E G H6335970ORPHA1170810597603415
HP:0008391HP:0008391Dystrophic fingernails0STAT3 CL E G H67742314ORPHA139911364102582
HP:0008391HP:0008391Dystrophic fingernails0STAT3 CL E G H67742314ORPHA143911364102582
HP:0008391HP:0008391Dystrophic fingernails0TP63 CL E G H86261071ORPHA137615979603273
HP:0008391HP:0008391Dystrophic fingernails0TP63 CL E G H86261071ORPHA144415979603273
HP:0008391HP:0008391Dystrophic fingernails0WNK1 CL E G H65125970ORPHA1125814540605232
HP:0008391HP:0008391Dystrophic fingernails0WNK1 CL E G H65125970ORPHA1109614540605232
HP:0008391HP:0008391Dystrophic fingernails0WNT10A CL E G H80326257980Odontoonychodermal dysplasia257980C0796093OMIM130913829606268
HP:0008391HP:0008391Dystrophic fingernails0WNT10A CL E G H80326257980Odontoonychodermal dysplasia257980C0796093OMIM129113829606268
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008391HP:0008391Dystrophic fingernails0RUNX2 CL E G H8601452ORPHA033310472600211
HP:0008391HP:0008391Dystrophic fingernails0RUNX2 CL E G H8601452ORPHA026510472600211


Genes (20) :BRAF COL7A1 GJA1 GJB2 GJB6 KIF1A KRAS KRT14 KRT74 MAP2K1 MAP2K2 MBTPS2 NECTIN1 RETREG1 RUNX2 SCN9A STAT3 TP63 WNK1 WNT10A

Diseases (13) :1340 79410 104100 477 970 69087 614929 308800 3253 1452 2314 1071 257980
 

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