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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008391HP:0008391Dystrophic fingernails0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0008391HP:0008391Dystrophic fingernails0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0008391HP:0008391Dystrophic fingernails0COL17A1 CL E G H13082194OMIM:619787EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4129
HP:0008391HP:0008391Dystrophic fingernails0COL17A1 CL E G H13082194ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0008391HP:0008391Dystrophic fingernails0COL7A1 CL E G H12942214ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosaHP:0040283 - Occasional263
HP:0008391HP:0008391Dystrophic fingernails0COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral formHP:0040282 - Frequent263
HP:0008391HP:0008391Dystrophic fingernails0COL7A1 CL E G H12942214ORPHA:158676Localized dystrophic epidermolysis bullosa, nails onlyHP:0040282 - Frequent263
HP:0008391HP:0008391Dystrophic fingernails0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0008391HP:0008391Dystrophic fingernails0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0008391HP:0008391Dystrophic fingernails0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0008391HP:0008391Dystrophic fingernails0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0008391HP:0008391Dystrophic fingernails0HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040281 - Very frequent4
HP:0008391HP:0008391Dystrophic fingernails0HPGD CL E G H32485154ORPHA:217059Isolated congenital digital clubbing55
HP:0008391HP:0008391Dystrophic fingernails0ITGB4 CL E G H36916158ORPHA:251393Localized junctional epidermolysis bullosaHP:0040283 - Occasional124
HP:0008391HP:0008391Dystrophic fingernails0KIF1A CL E G H547888ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent276
HP:0008391HP:0008391Dystrophic fingernails0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0008391HP:0008391Dystrophic fingernails0KRT74 CL E G H12139128929OMIM:614929Ectodermal dysplasia 7, Hair/nail type.5
HP:0008391HP:0008391Dystrophic fingernails0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0008391HP:0008391Dystrophic fingernails0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0008391HP:0008391Dystrophic fingernails0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0008391HP:0008391Dystrophic fingernails0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0008391HP:0008391Dystrophic fingernails0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0008391HP:0008391Dystrophic fingernails0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0008391HP:0008391Dystrophic fingernails0PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0008391HP:0008391Dystrophic fingernails0RETREG1 CL E G H5446325964ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent54
HP:0008391HP:0008391Dystrophic fingernails0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0008391HP:0008391Dystrophic fingernails0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040283 - Occasional90
HP:0008391HP:0008391Dystrophic fingernails0SCN9A CL E G H633510597ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent318
HP:0008391HP:0008391Dystrophic fingernails0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040282 - Frequent110
HP:0008391HP:0008391Dystrophic fingernails0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0008391HP:0008391Dystrophic fingernails0WNK1 CL E G H6512514540ORPHA:970Hereditary sensory and autonomic neuropathy type 2HP:0040281 - Very frequent199
HP:0008391HP:0008391Dystrophic fingernails0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia.71
HP:0008391HP:0008391Dystrophic fingernails0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0008391HP:0008391Dystrophic fingernails0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome.17
HP:0008391HP:0008391Dystrophic fingernails0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83


Genes (31) :BRAF CARS1 COL17A1 COL7A1 ERCC2 ERCC3 GTF2E2 GTF2H5 HLA-B HPGD ITGB4 KIF1A KRAS KRT74 LMNA MAP2K1 MAP2K2 MBTPS2 MPLKIP NECTIN1 PKP1 RETREG1 RNF113A RUNX2 SCN9A STAT3 TARS1 WNK1 WNT10A ZBTB20 ZMPSTE24

Diseases (20) :ORPHA:1340 ORPHA:33364 OMIM:619787 ORPHA:251393 ORPHA:231568 ORPHA:158673 ORPHA:158676 ORPHA:29207 ORPHA:217059 ORPHA:970 OMIM:614929 ORPHA:740 OMIM:308800 ORPHA:3253 OMIM:604536 ORPHA:1452 ORPHA:2314 OMIM:257980 OMIM:150400 OMIM:259050
 

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