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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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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001598HP:0001598Concave nail0EDA CL E G H1896305100Hypohidrotic X-linked ectodermal dysplasia305100C0162359OMIM14953157300451
HP:0001598HP:0001598Concave nail0EDA CL E G H1896305100Hypohidrotic X-linked ectodermal dysplasia305100C0162359OMIM14603157300451
HP:0001598HP:0001598Concave nail0HOXC13 CL E G H3229614931Ectodermal dysplasia 9, hair/nail type614931C3554127OMIM1175125142976
HP:0001598HP:0001598Concave nail0HRAS CL E G H32653071ORPHA14675173190020
HP:0001598HP:0001598Concave nail0HRAS CL E G H32653071ORPHA14115173190020
HP:0001598HP:0001598Concave nail0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14675173190020
HP:0001598HP:0001598Concave nail0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14115173190020
HP:0001598HP:0001598Concave nail0LMX1B CL E G H40102614ORPHA13746654602575
HP:0001598HP:0001598Concave nail0LMX1B CL E G H40102614ORPHA14306654602575
HP:0001598HP:0001598Concave nail0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM14306654602575
HP:0001598HP:0001598Concave nail0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM13746654602575
HP:0001598HP:0001598Concave nail0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM19216002609188
HP:0001598HP:0001598Concave nail0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM16316002609188
HP:0001598HP:0001598Concave nail0MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11587391142983
HP:0001598HP:0001598Concave nail0MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11507391142983
HP:0001598HP:0001598Concave nail0PLCD1 CL E G H5333151600Leukonychia totalis151600C0544855OMIM1699060602142
HP:0001598HP:0001598Concave nail0PLCD1 CL E G H5333151600Leukonychia totalis151600C0544855OMIM1669060602142
HP:0001598HP:0001598Concave nail0SLURP1 CL E G H5715287503ORPHA18018746606119
HP:0001598HP:0001598Concave nail0SLURP1 CL E G H5715287503ORPHA18118746606119
HP:0001598HP:0001598Concave nail0TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM133612340604386
HP:0001598HP:0001598Concave nail0TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM127012340604386
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (9) :EDA HOXC13 HRAS LMX1B MPLKIP MSX1 PLCD1 SLURP1 TRPS1

Diseases (11) :305100 614931 3071 218040 2614 161200 234050 189500 151600 87503 190350
 

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