Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the nail (HP:0001597)

Parent Node:
Nail dysplasia (HP:0002164)

..Starting node
..Split nail (HP:0001809)

Term ID:

1809

Name:

Split nail

Synonym:

Longitudinal splitting of nail

Definition:

A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.

Comments:

Reference:

HP:0001809

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)

Toenail dysplasia (HP:0100797)

Trachyonychia (HP:0030804)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001809	HP:0001809	Split nail	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001809	HP:0001809	Split nail	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0001809	HP:0001809	Split nail	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0001809	HP:0001809	Split nail	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0001809	HP:0001809	Split nail	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0001809	HP:0001809	Split nail	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0001809	HP:0001809	Split nail	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001809	HP:0001809	Split nail	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0001809	HP:0001809	Split nail	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001809	HP:0001809	Split nail	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional

Genes (10) :CARS1 DKC1 EFNB1 ERCC2 ERCC3 GTF2E2 GTF2H5 MPLKIP RNF113A TARS1

Diseases (3) :ORPHA:33364 OMIM:305000 OMIM:304110

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