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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Nail pits (HP:0001803)help
Term ID: 1803
Name: Nail pits
Synonym: Nail pits; Nail pitting; Pitted nails
Definition: Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.
Comments:
Reference: HP:0001803
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
..expandNarrow nail (HP:0011313) help
..expandPlatonychia (HP:0030803) help
..expandRidged nail (HP:0001807) 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:0001803HP:0001803Nail pits0FOXN1 CL E G H845612765ORPHA:169095Severe combined immunodeficiency due to FOXN1 deficiencyHP:0040281 - Very frequent54
HP:0001803HP:0001803Nail pits0FOXN1 CL E G H845612765OMIM:601705T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY.54
HP:0001803HP:0001803Nail pits0HLA-C CL E G H31074933OMIM:177900Psoriasis 1, susceptibility to.2
HP:0001803HP:0001803Nail pits0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0001803HP:0001803Nail pits0LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 8HP:0040283 - Occasional8
HP:0001803HP:0001803Nail pits0MSX1 CL E G H44877391OMIM:189500Witkop syndrome.12
HP:0001803HP:0001803Nail pits0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0001803HP:0001803Nail pits0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0001803HP:0001803Nail pits0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0001803HP:0001803Nail pits0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome.60
HP:0001803HP:0001803Nail pits0TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0001803HP:0001803Nail pits0TP63 CL E G H862615979ORPHA:978ADULT syndromeHP:0040281 - Very frequent140
HP:0001803HP:0001803Nail pits0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0001803HP:0001803Nail pits0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040281 - Very frequent140


Genes (9) :FOXN1 HLA-C IKBKG LPAR6 MSX1 TERC TERT TINF2 TP63

Diseases (12) :ORPHA:169095 OMIM:601705 OMIM:177900 OMIM:308300 OMIM:278150 OMIM:189500 OMIM:127550 OMIM:268130 OMIM:103285 ORPHA:978 OMIM:604292 ORPHA:1896
 

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