Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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)

Parent Node:
Nail dysplasia (HP:0002164)

..Starting node
..Fingernail dysplasia (HP:0100798)

Term ID:

100798

Name:

Fingernail dysplasia

Synonym:

Abnormal fingernail development; Dysplastic fingernails

Definition:

An abnormality of the development of the fingernails.

Comments:

Reference:

HP:0100798

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)

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:0100798	HP:0100798	Fingernail dysplasia	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0100798	HP:0100798	Fingernail dysplasia	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0100798	HP:0100798	Fingernail dysplasia	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0100798	HP:0100798	Fingernail dysplasia	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	HP:0040283 - Occasional	8
HP:0100798	HP:0100798	Fingernail dysplasia	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	27
HP:0100798	HP:0100798	Fingernail dysplasia	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	23
HP:0100798	HP:0100798	Fingernail dysplasia	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	41
HP:0100798	HP:0100798	Fingernail dysplasia	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040282 - Frequent	4
HP:0100798	HP:0100798	Fingernail dysplasia	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040282 - Frequent	165
HP:0100798	HP:0100798	Fingernail dysplasia	0	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent	124
HP:0100798	HP:0100798	Fingernail dysplasia	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0100798	HP:0100798	Fingernail dysplasia	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0100798	HP:0100798	Fingernail dysplasia	0	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent	26
HP:0100798	HP:0100798	Fingernail dysplasia	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent	12
HP:0100798	HP:0100798	Fingernail dysplasia	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent	140
HP:0100798	HP:0100798	Fingernail dysplasia	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98

Genes (16) :DVL1 DVL3 FZD2 IL11RA KRT16 KRT17 KRT6A KRT6B LMX1B LRP4 NXN ROR2 SOST TFAP2A TP63 WNT5A

Diseases (8) :ORPHA:3107 OMIM:614188 ORPHA:2309 ORPHA:2614 ORPHA:3152 ORPHA:1507 ORPHA:1297 ORPHA:978

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

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