Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the nail (HP:0001597)help
Parent Node:
expand
Nail dysplasia (HP:0002164)help
..Starting node
..expand
Concave nail (HP:0001598)help
Term ID: 1598
Name: Concave nail
Synonym: Koilonychia; Spoon-shaped nails
Definition: The natural longitudinal (posterodistal) convex arch is not present or is inverted.
Comments:
Reference: HP:0001598
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBifid nail (HP:0010793) help
..expandBroad nail (HP:0001821) 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
..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:0001598HP:0001598Concave nail0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001598HP:0001598Concave nail0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0001598HP:0001598Concave nail0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001598HP:0001598Concave nail0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001598HP:0001598Concave nail0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001598HP:0001598Concave nail0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001598HP:0001598Concave nail0HOXC13 CL E G H32295125OMIM:614931Ectodermal dysplasia 9, Hair/nail type3
HP:0001598HP:0001598Concave nail0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0001598HP:0001598Concave nail0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
HP:0001598HP:0001598Concave nail0KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratodermaHP:0040283 - Occasional100
HP:0001598HP:0001598Concave nail0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0001598HP:0001598Concave nail0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0001598HP:0001598Concave nail0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive.9
HP:0001598HP:0001598Concave nail0MSX1 CL E G H44877391OMIM:189500Witkop syndrome.12
HP:0001598HP:0001598Concave nail0PLCD1 CL E G H53339060OMIM:151600Nail disorder, nonsyndromic congenital, 3.5
HP:0001598HP:0001598Concave nail0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome7
HP:0001598HP:0001598Concave nail0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001598HP:0001598Concave nail0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001598HP:0001598Concave nail0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171


Genes (17) :CARS1 EDA ERCC2 ERCC3 GTF2E2 GTF2H5 HOXC13 HRAS KRT1 LMX1B MPLKIP MSX1 PLCD1 RLIM RNF113A TARS1 TRPS1

Diseases (12) :ORPHA:33364 OMIM:305100 OMIM:614931 OMIM:218040 ORPHA:3071 ORPHA:530838 OMIM:161200 OMIM:234050 OMIM:189500 OMIM:151600 OMIM:300978 OMIM:190350
 

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