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:
Onychogryposis (HP:0001805)

..Starting node
..Onychogryposis of fingernail (HP:0040036)

Term ID:

40036

Name:

Onychogryposis of fingernail

Synonym:

Overgrowth and curving of fingernail

Definition:

Thickened fingernails.

Comments:

Reference:

HP:0040036

Genes and Diseases:

Child Nodes:

Sister Nodes:

Onychauxis (HP:0012542)

Onychogryposis of toenails (HP:0008401)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040036	HP:0040036	Onychogryposis of fingernail	0	DVL1 CL E G H	1855	3107	ORPHA	0	347	3084	601365
HP:0040036	HP:0040036	Onychogryposis of fingernail	0	DVL1 CL E G H	1855	3107	ORPHA	0	408	3084	601365
HP:0040036	HP:0040036	Onychogryposis of fingernail	0	DVL3 CL E G H	1857	3107	ORPHA	0	141	3087	601368
HP:0040036	HP:0040036	Onychogryposis of fingernail	0	DVL3 CL E G H	1857	3107	ORPHA	0	112	3087	601368
HP:0040036	HP:0040036	Onychogryposis of fingernail	0	FZD2 CL E G H	2535	3107	ORPHA	0	37	4040	600667
HP:0040036	HP:0040036	Onychogryposis of fingernail	0	FZD2 CL E G H	2535	3107	ORPHA	0	54	4040	600667
HP:0040036	HP:0040036	Onychogryposis of fingernail	0	WNT5A CL E G H	7474	3107	ORPHA	0	107	12784	164975
HP:0040036	HP:0040036	Onychogryposis of fingernail	0	WNT5A CL E G H	7474	3107	ORPHA	0	92	12784	164975

Genes (4) :DVL1 DVL3 FZD2 WNT5A

Diseases (1) :3107

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.