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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001803HP:0001803Nail pits0FOXN1 CL E G H8456169095ORPHA136812765600838
HP:0001803HP:0001803Nail pits0FOXN1 CL E G H8456169095ORPHA130512765600838
HP:0001803HP:0001803Nail pits0FOXN1 CL E G H8456601705T-cell immunodeficiency, congenital alopecia and nail dystrophy601705C1866426OMIM136812765600838
HP:0001803HP:0001803Nail pits0FOXN1 CL E G H8456601705T-cell immunodeficiency, congenital alopecia and nail dystrophy601705C1866426OMIM130512765600838
HP:0001803HP:0001803Nail pits0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13375961300248
HP:0001803HP:0001803Nail pits0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13265961300248
HP:0001803HP:0001803Nail pits0MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11587391142983
HP:0001803HP:0001803Nail pits0MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11507391142983
HP:0001803HP:0001803Nail pits0TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM129111727602322
HP:0001803HP:0001803Nail pits0TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM122711727602322
HP:0001803HP:0001803Nail pits0TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM1188711730187270
HP:0001803HP:0001803Nail pits0TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM1160611730187270
HP:0001803HP:0001803Nail pits0TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM128811824604319
HP:0001803HP:0001803Nail pits0TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM123011824604319
HP:0001803HP:0001803Nail pits0TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM128811824604319
HP:0001803HP:0001803Nail pits0TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM123011824604319
HP:0001803HP:0001803Nail pits0TP63 CL E G H8626978ORPHA144415979603273
HP:0001803HP:0001803Nail pits0TP63 CL E G H8626978ORPHA137615979603273
HP:0001803HP:0001803Nail pits0TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM144415979603273
HP:0001803HP:0001803Nail pits0TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM137615979603273
HP:0001803HP:0001803Nail pits0TP63 CL E G H86261896Dominant cleft palateORPHA144415979603273
HP:0001803HP:0001803Nail pits0TP63 CL E G H86261896Dominant cleft palateORPHA137615979603273
HP:0001803HP:0001803Nail pits0TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM144415979603273
HP:0001803HP:0001803Nail pits0TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM137615979603273
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001803HP:0001803Nail pits0LPAR6 CL E G H10161278150Hypotrichosis 8278150C1848435OMIM010115520609239
HP:0001803HP:0001803Nail pits0LPAR6 CL E G H10161278150Hypotrichosis 8278150C1848435OMIM09615520609239


Genes (8) :FOXN1 IKBKG LPAR6 MSX1 TERC TERT TINF2 TP63

Diseases (11) :169095 601705 308300 278150 189500 127550 268130 978 103285 1896 604292
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.