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: |
..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)
|
..Narrow nail (HP:0011313)
|
..Platonychia (HP:0030803)
|
..Ridged nail (HP:0001807)
|
..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:0001803 | HP:0001803 | Nail pits | 0 | FOXN1 CL E G H | 8456 | 12765 | ORPHA:169095 | Severe combined immunodeficiency due to FOXN1 deficiency | HP:0040281 - Very frequent | | | 54 | | | HP:0001803 | HP:0001803 | Nail pits | 0 | FOXN1 CL E G H | 8456 | 12765 | OMIM:601705 | T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY | . | | | 54 | | | HP:0001803 | HP:0001803 | Nail pits | 0 | HLA-C CL E G H | 3107 | 4933 | OMIM:177900 | Psoriasis 1, susceptibility to | . | | | 2 | | | HP:0001803 | HP:0001803 | Nail pits | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | | HP:0001803 | HP:0001803 | Nail pits | 0 | LPAR6 CL E G H | 10161 | 15520 | OMIM:278150 | Hypotrichosis 8 | HP:0040283 - Occasional | | | 8 | | | HP:0001803 | HP:0001803 | Nail pits | 0 | MSX1 CL E G H | 4487 | 7391 | OMIM:189500 | Witkop syndrome | . | | | 12 | | | HP:0001803 | HP:0001803 | Nail pits | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | | HP:0001803 | HP:0001803 | Nail pits | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | | HP:0001803 | HP:0001803 | Nail pits | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | | HP:0001803 | HP:0001803 | Nail pits | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | . | | | 60 | | | HP:0001803 | HP:0001803 | Nail pits | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | | HP:0001803 | HP:0001803 | Nail pits | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | HP:0040281 - Very frequent | | | 140 | | | HP:0001803 | HP:0001803 | Nail pits | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | | HP:0001803 | HP:0001803 | Nail pits | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040281 - Very frequent | | | 140 | | |
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.
|