| 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: |
.. Bifid nail (HP:0010793) 
|
..Broad nail (HP:0001821)
|
..Concave nail (HP:0001598)
|
..Congenital onychodystrophy (HP:0008394)
|
..Deep-set nails (HP:0001814)
|
..Fingernail dysplasia (HP:0100798)
|
..Fused nails (HP:0011312)
|
..Hyperconvex nail (HP:0001795)
|
..Nail pits (HP:0001803)
|
..Narrow nail (HP:0011313)
|
..Platonychia (HP:0030803)
|
..Ridged nail (HP:0001807)
|
..Split nail (HP:0001809)
|
..Trachyonychia (HP:0030804)
|
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
|---|
HPO disease - gene - phenotype typical associations: | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | BHLHA9 CL E G H | 727857 | 607539 | Camptosynpolydactyly, complex | 607539 | C1843758 | OMIM | 1 | | 131 | 35126 | 615416 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | BHLHA9 CL E G H | 727857 | 607539 | Camptosynpolydactyly, complex | 607539 | C1843758 | OMIM | 1 | | 141 | 35126 | 615416 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | EOGT CL E G H | 285203 | 615297 | Adams-Oliver syndrome 4 | 615297 | C3809092 | OMIM | 1 | | 137 | 28526 | 614789 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | EOGT CL E G H | 285203 | 615297 | Adams-Oliver syndrome 4 | 615297 | C3809092 | OMIM | 1 | | 122 | 28526 | 614789 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | EVC CL E G H | 2121 | 952 | Bowing congenital short bones | | | ORPHA | 1 | | 1109 | 3497 | 604831 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | EVC CL E G H | 2121 | 952 | Bowing congenital short bones | | | ORPHA | 1 | | 1014 | 3497 | 604831 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | EVC2 CL E G H | 132884 | 952 | Bowing congenital short bones | | | ORPHA | 1 | | 929 | 19747 | 607261 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | EVC2 CL E G H | 132884 | 952 | Bowing congenital short bones | | | ORPHA | 1 | | 1047 | 19747 | 607261 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | SHANK3 CL E G H | 85358 | 606232 | 22q13.3 deletion syndrome | 606232 | C1853490 | OMIM | 1 | | 638 | 14294 | 606230 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | SHANK3 CL E G H | 85358 | 606232 | 22q13.3 deletion syndrome | 606232 | C1853490 | OMIM | 1 | | 617 | 14294 | 606230 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 1 | | 666 | 29203 | 613577 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 1 | | 738 | 29203 | 613577 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | TP63 CL E G H | 8626 | 978 | | | | ORPHA | 1 | | 444 | 15979 | 603273 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | TP63 CL E G H | 8626 | 978 | | | | ORPHA | 1 | | 376 | 15979 | 603273 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | VEGFC CL E G H | 7424 | 615907 | Lymphedema, hereditary, ID | 615907 | C4014628 | OMIM | 1 | | 94 | 12682 | 601528 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | VEGFC CL E G H | 7424 | 615907 | Lymphedema, hereditary, ID | 615907 | C4014628 | OMIM | 1 | | 97 | 12682 | 601528 |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 302 | 11535 | 313650 | | HP:0100797 | HP:0100797 | Toenail dysplasia | 0 | TAF1 CL E G H | 6872 | 300966 | Mental retardation, X-linked, syndromic 33 | 300966 | C4225418 | OMIM | 0 | | 321 | 11535 | 313650 |
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.
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