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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100797HP:0100797Toenail dysplasia0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040281 - Very frequent5
HP:0100797HP:0100797Toenail dysplasia0BHLHA9 CL E G H72785735126OMIM:607539Camptosynpolydactyly, complex.4
HP:0100797HP:0100797Toenail dysplasia0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomaliesHP:0040284 - Very rare13
HP:0100797HP:0100797Toenail dysplasia0EOGT CL E G H28520328526OMIM:615297Adams-Oliver syndrome 4.4
HP:0100797HP:0100797Toenail dysplasia0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent209
HP:0100797HP:0100797Toenail dysplasia0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent137
HP:0100797HP:0100797Toenail dysplasia0FLT4 CL E G H23243767ORPHA:79452Milroy diseaseHP:0040282 - Frequent90
HP:0100797HP:0100797Toenail dysplasia0GJC2 CL E G H5716517494ORPHA:79452Milroy diseaseHP:0040282 - Frequent37
HP:0100797HP:0100797Toenail dysplasia0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0100797HP:0100797Toenail dysplasia0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome.53
HP:0100797HP:0100797Toenail dysplasia0SOX18 CL E G H5434511194OMIM:607823Hypotrichosis-Lymphedema-Telangiectasia syndrome.7
HP:0100797HP:0100797Toenail dysplasia0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0100797HP:0100797Toenail dysplasia0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040281 - Very frequent271
HP:0100797HP:0100797Toenail dysplasia0TP63 CL E G H862615979ORPHA:978ADULT syndromeHP:0040281 - Very frequent140
HP:0100797HP:0100797Toenail dysplasia0VEGFC CL E G H742412682OMIM:615907Lymphedema, hereditary, ID.4


Genes (15) :ATP6V1B2 BHLHA9 BMP2 EOGT EVC EVC2 FLT4 GJC2 LMX1B SHANK3 SOX18 TAF1 TBC1D24 TP63 VEGFC

Diseases (12) :ORPHA:79500 OMIM:607539 OMIM:617877 OMIM:615297 ORPHA:952 ORPHA:79452 ORPHA:2614 OMIM:606232 OMIM:607823 OMIM:300966 ORPHA:978 OMIM:615907
 

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