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:
Recurrent bacterial infections (HP:0002718)

Grandparent Node:
Recurrent skin infections (HP:0001581)

Parent Node:
Cutaneous abscess (HP:0031292)

Parent Node:
Recurrent abscess formation (HP:0002722)

Parent Node:
Recurrent bacterial skin infections (HP:0005406)

..Starting node
..Recurrent cutaneous abscess formation (HP:0100838)

Term ID:

100838

Name:

Recurrent cutaneous abscess formation

Synonym:

Definition:

An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.

Comments:

Reference:

HP:0100838

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic furunculosis (HP:0011132)

Pyoderma (HP:0000999)

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:0100838	HP:0100838	Recurrent cutaneous abscess formation	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent	109
HP:0100838	HP:0100838	Recurrent cutaneous abscess formation	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0100838	HP:0100838	Recurrent cutaneous abscess formation	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040282 - Frequent	50
HP:0100838	HP:0100838	Recurrent cutaneous abscess formation	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0100838	HP:0100838	Recurrent cutaneous abscess formation	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0100838	HP:0100838	Recurrent cutaneous abscess formation	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0100838	HP:0100838	Recurrent cutaneous abscess formation	0	PSEN1 CL E G H	5663	9508	OMIM:613737	Acne inversa, familial, 3		241
HP:0100838	HP:0100838	Recurrent cutaneous abscess formation	0	PSENEN CL E G H	55851	30100	OMIM:613736	Acne inversa, familial, 2, with or without dowling-degos disease	.	2
HP:0100838	HP:0100838	Recurrent cutaneous abscess formation	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7

Genes (9) :BTK CARMIL2 CTSC GJB2 GJB6 LCP2 PSEN1 PSENEN UBE2A

Diseases (8) :ORPHA:47 OMIM:618131 ORPHA:678 ORPHA:477 OMIM:619374 OMIM:613737 OMIM:613736 ORPHA:163956

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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