Term ID: |
1807 |
Name: |
Ridged nail |
Synonym: |
Grooved nails; Longitudinal ridging; Nail ridging; Ridged nails |
Definition: |
Longitudinal, linear prominences in the nail plate. |
Comments: |
|
Reference: |
HP:0001807 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
..Bifid nail (HP:0010793)
|
..Broad nail (HP:0001821)
|
..Concave nail (HP:0001598)
|
..Congenital onychodystrophy (HP:0008394)
|
..Deep-set nails (HP:0001814)
|
..Fingernail dysplasia (HP:0100798)
|
..Fused nails (HP:0011312)
|
..Hyperconvex nail (HP:0001795)
|
..Nail pits (HP:0001803)
|
..Narrow nail (HP:0011313)
|
..Platonychia (HP:0030803)
|
..Split nail (HP:0001809)
|
..Toenail dysplasia (HP:0100797)
|
..Trachyonychia (HP:0030804)
|
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0001807 | HP:0001807 | Ridged nail | 0 | ATP2A2 CL E G H | 488 | 812 | OMIM:101900 | Acrokeratosis verruciformis | . | | | 86 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | ATP2A2 CL E G H | 488 | 812 | OMIM:124200 | Darier-White disease | . | | | 86 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | HP:0040283 - Occasional | | | 168 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | CTSK CL E G H | 1513 | 2536 | OMIM:265800 | PYCNODYSOSTOSIS | . | | | 39 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | HP:0040282 - Frequent | | | 39 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | | | | 86 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | | | | 56 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | FERMT1 CL E G H | 55612 | 15889 | OMIM:173650 | Kindler syndrome | . | | | 136 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | FOXN1 CL E G H | 8456 | 12765 | ORPHA:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | HP:0040281 - Very frequent | | | 54 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | . | | | 54 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | HP:0040283 - Occasional | | | 110 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | LPAR6 CL E G H | 10161 | 15520 | OMIM:278150 | Hypotrichosis 8 | HP:0040283 - Occasional | | | 8 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | MSX1 CL E G H | 4487 | 7391 | OMIM:189500 | Witkop syndrome | . | | | 12 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | HP:0040282 - Frequent | | | 55 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | | HP:0001807 | HP:0001807 | Ridged nail | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:224750 | Schopf-Schulz-Passarge syndrome | . | | | 71 | | |
Genes (29) :ATP2A2 ATR CARS1 CTSK DKC1 EDAR EDARADD EFNB1 ERCC2 ERCC3 FERMT1 FOXN1 GJA1 GTF2E2 GTF2H5 IKBKG KRT14 LMX1B LPAR6 MPLKIP MSX1 PORCN RNF113A SLC39A4 TARS1 TERC TERT TINF2 WNT10A
Diseases (23) :OMIM:101900 OMIM:124200 OMIM:614564 ORPHA:33364 OMIM:265800 ORPHA:763 OMIM:305000 OMIM:129490 OMIM:304110 OMIM:173650 ORPHA:169095 OMIM:601705 ORPHA:1010 OMIM:308300 ORPHA:89838 OMIM:161200 OMIM:278150 OMIM:189500 OMIM:305600 ORPHA:37 OMIM:127550 OMIM:257980 OMIM:224750 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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