Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nail (HP:0001597)help
Parent Node:
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Nail dysplasia (HP:0002164)help
..Starting node
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Ridged nail (HP:0001807)help
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: 
..expandBifid nail (HP:0010793) help
..expandBroad nail (HP:0001821) help
..expandConcave nail (HP:0001598) help
..expandCongenital onychodystrophy (HP:0008394) help
..expandDeep-set nails (HP:0001814) help
..expandFingernail dysplasia (HP:0100798) help
..expandFused nails (HP:0011312) help
..expandHyperconvex nail (HP:0001795) help
..expandNail pits (HP:0001803) help
..expandNarrow nail (HP:0011313) help
..expandPlatonychia (HP:0030803) help
..expandSplit nail (HP:0001809) help
..expandToenail dysplasia (HP:0100797) help
..expandTrachyonychia (HP:0030804) 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:0001807HP:0001807Ridged nail0ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis.86
HP:0001807HP:0001807Ridged nail0ATP2A2 CL E G H488812OMIM:124200Darier-White disease.86
HP:0001807HP:0001807Ridged nail0ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familialHP:0040283 - Occasional168
HP:0001807HP:0001807Ridged nail0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001807HP:0001807Ridged nail0CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS.39
HP:0001807HP:0001807Ridged nail0CTSK CL E G H15132536ORPHA:763PycnodysostosisHP:0040282 - Frequent39
HP:0001807HP:0001807Ridged nail0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0001807HP:0001807Ridged nail0EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant86
HP:0001807HP:0001807Ridged nail0EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant56
HP:0001807HP:0001807Ridged nail0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0001807HP:0001807Ridged nail0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001807HP:0001807Ridged nail0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001807HP:0001807Ridged nail0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome.136
HP:0001807HP:0001807Ridged nail0FOXN1 CL E G H845612765ORPHA:169095Severe combined immunodeficiency due to FOXN1 deficiencyHP:0040281 - Very frequent54
HP:0001807HP:0001807Ridged nail0FOXN1 CL E G H845612765OMIM:601705T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY.54
HP:0001807HP:0001807Ridged nail0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0001807HP:0001807Ridged nail0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001807HP:0001807Ridged nail0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001807HP:0001807Ridged nail0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0001807HP:0001807Ridged nail0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0001807HP:0001807Ridged nail0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0001807HP:0001807Ridged nail0LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 8HP:0040283 - Occasional8
HP:0001807HP:0001807Ridged nail0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0001807HP:0001807Ridged nail0MSX1 CL E G H44877391OMIM:189500Witkop syndrome.12
HP:0001807HP:0001807Ridged nail0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0001807HP:0001807Ridged nail0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001807HP:0001807Ridged nail0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040282 - Frequent55
HP:0001807HP:0001807Ridged nail0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001807HP:0001807Ridged nail0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0001807HP:0001807Ridged nail0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0001807HP:0001807Ridged nail0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0001807HP:0001807Ridged nail0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0001807HP:0001807Ridged nail0WNT10A CL E G H8032613829OMIM:224750Schopf-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.