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
..Deep-set nails (HP:0001814)

Term ID:

1814

Name:

Deep-set nails

Synonym:

Deep-set nails

Definition:

Deeply placed nails.

Comments:

Reference:

HP:0001814

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bifid nail (HP:0010793)

Broad nail (HP:0001821)

Concave nail (HP:0001598)

Congenital onychodystrophy (HP:0008394)

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)

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:0001814	HP:0001814	Deep-set nails	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	4
HP:0001814	HP:0001814	Deep-set nails	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0001814	HP:0001814	Deep-set nails	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	81
HP:0001814	HP:0001814	Deep-set nails	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0001814	HP:0001814	Deep-set nails	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent	113
HP:0001814	HP:0001814	Deep-set nails	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	544
HP:0001814	HP:0001814	Deep-set nails	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent	1

Genes (5) :EED EZH2 HRAS NSD1 SUZ12

Diseases (4) :ORPHA:3447 OMIM:277590 OMIM:218040 ORPHA:3071

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