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:
Abnormal fingernail morphology (HP:0001231)

..Starting node
..Ridged fingernail (HP:0008402)

Term ID:

8402

Name:

Ridged fingernail

Synonym:

Longitudinally grooved fingernails; Ridged fingernail; Ridged fingernails

Definition:

Longitudinal, linear prominences in the fingernail plate.

Comments:

Reference:

HP:0008402

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dystrophic fingernails (HP:0008391)

Fingernail dysplasia (HP:0100798)

Hypoplastic fingernail (HP:0001804)

Onycholysis of fingernails (HP:0040039)

Thin fingernail (HP:0012742)

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:0008402	HP:0008402	Ridged fingernail	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0008402	HP:0008402	Ridged fingernail	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0008402	HP:0008402	Ridged fingernail	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040281 - Very frequent	27
HP:0008402	HP:0008402	Ridged fingernail	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0008402	HP:0008402	Ridged fingernail	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0008402	HP:0008402	Ridged fingernail	0	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040281 - Very frequent	12
HP:0008402	HP:0008402	Ridged fingernail	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent	55
HP:0008402	HP:0008402	Ridged fingernail	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.	60
HP:0008402	HP:0008402	Ridged fingernail	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98

Genes (9) :DVL1 DVL3 EFNB1 FZD2 IKBKG MSX1 SLC39A4 TINF2 WNT5A

Diseases (6) :ORPHA:3107 ORPHA:1520 ORPHA:464 ORPHA:2228 ORPHA:37 OMIM:268130

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