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)

Grandparent Node:
Regional abnormality of skin (HP:0011356)

Parent Node:
Abnormality of the periungual region (HP:0100803)

..Starting node
..Paronychia (HP:0001818)

Term ID:

1818

Name:

Paronychia

Synonym:

Definition:

The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).

Comments:

Reference:

HP:0001818

Genes and Diseases:

Child Nodes:

Sister Nodes:

Circumungual hyperkeratosis (HP:0008399)

Ungual fibroma (HP:0100804)

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:0001818	HP:0001818	Paronychia	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0001818	HP:0001818	Paronychia	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0001818	HP:0001818	Paronychia	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0001818	HP:0001818	Paronychia	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0001818	HP:0001818	Paronychia	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	27
HP:0001818	HP:0001818	Paronychia	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	23
HP:0001818	HP:0001818	Paronychia	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	41
HP:0001818	HP:0001818	Paronychia	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional	4
HP:0001818	HP:0001818	Paronychia	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent	116
HP:0001818	HP:0001818	Paronychia	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent	167
HP:0001818	HP:0001818	Paronychia	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040282 - Frequent	135
HP:0001818	HP:0001818	Paronychia	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0001818	HP:0001818	Paronychia	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0001818	HP:0001818	Paronychia	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent	55
HP:0001818	HP:0001818	Paronychia	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0001818	HP:0001818	Paronychia	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0001818	HP:0001818	Paronychia	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199

Genes (16) :ADAM17 BLM CEBPE KIF1A KRT16 KRT17 KRT6A KRT6B LAMA3 LAMB3 LAMC2 RETREG1 SCN9A SLC39A4 STAT3 WNK1

Diseases (9) :OMIM:614328 ORPHA:125 OMIM:260570 OMIM:201300 ORPHA:2309 ORPHA:79404 ORPHA:37 OMIM:201100 ORPHA:2314

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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