Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nail (HP:0001597)help
Parent Node:
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Abnormal toenail morphology (HP:0008388)help
Parent Node:
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Nail dysplasia (HP:0002164)help
..Starting node
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Toenail dysplasia (HP:0100797)help
Term ID: 100797
Name: Toenail dysplasia
Synonym: Abnormal toenail development; Dysplastic toenails
Definition: An abnormality of the development of the toenails.
Comments:
Reference: HP:0100797
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
..expandNail pits (HP:0001803) help
..expandNarrow nail (HP:0011313) help
..expandPlatonychia (HP:0030803) help
..expandRidged nail (HP:0001807) help
..expandSplit nail (HP:0001809) help
..expandTrachyonychia (HP:0030804) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100797HP:0100797Toenail dysplasia0BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM113135126615416
HP:0100797HP:0100797Toenail dysplasia0BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM114135126615416
HP:0100797HP:0100797Toenail dysplasia0EOGT CL E G H285203615297Adams-Oliver syndrome 4615297C3809092OMIM113728526614789
HP:0100797HP:0100797Toenail dysplasia0EOGT CL E G H285203615297Adams-Oliver syndrome 4615297C3809092OMIM112228526614789
HP:0100797HP:0100797Toenail dysplasia0EVC CL E G H2121952Bowing congenital short bonesORPHA111093497604831
HP:0100797HP:0100797Toenail dysplasia0EVC CL E G H2121952Bowing congenital short bonesORPHA110143497604831
HP:0100797HP:0100797Toenail dysplasia0EVC2 CL E G H132884952Bowing congenital short bonesORPHA192919747607261
HP:0100797HP:0100797Toenail dysplasia0EVC2 CL E G H132884952Bowing congenital short bonesORPHA1104719747607261
HP:0100797HP:0100797Toenail dysplasia0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM163814294606230
HP:0100797HP:0100797Toenail dysplasia0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM161714294606230
HP:0100797HP:0100797Toenail dysplasia0TBC1D24 CL E G H5746579500ORPHA166629203613577
HP:0100797HP:0100797Toenail dysplasia0TBC1D24 CL E G H5746579500ORPHA173829203613577
HP:0100797HP:0100797Toenail dysplasia0TP63 CL E G H8626978ORPHA144415979603273
HP:0100797HP:0100797Toenail dysplasia0TP63 CL E G H8626978ORPHA137615979603273
HP:0100797HP:0100797Toenail dysplasia0VEGFC CL E G H7424615907Lymphedema, hereditary, ID615907C4014628OMIM19412682601528
HP:0100797HP:0100797Toenail dysplasia0VEGFC CL E G H7424615907Lymphedema, hereditary, ID615907C4014628OMIM19712682601528
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100797HP:0100797Toenail dysplasia0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM030211535313650
HP:0100797HP:0100797Toenail dysplasia0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM032111535313650


Genes (9) :BHLHA9 EOGT EVC EVC2 SHANK3 TAF1 TBC1D24 TP63 VEGFC

Diseases (8) :607539 615297 952 606232 300966 79500 978 615907
 

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