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 infections (HP:0002719)

Parent Node:
Abnormal liver morphology (HP:0410042)

Parent Node:
Recurrent abscess formation (HP:0002722)

..Starting node
..Liver abscess (HP:0100523)

Term ID:

100523

Name:

Liver abscess

Synonym:

Hepatic abscess; Liver abscess

Definition:

The presence of an abscess of the liver.

Comments:

Reference:

HP:0100523

Genes and Diseases:

Child Nodes:

Sister Nodes:

Rectal abscess (HP:0005224)

Recurrent cutaneous abscess formation (HP:0100838)

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:0100523	HP:0100523	Liver abscess	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040284 - Very rare	111
HP:0100523	HP:0100523	Liver abscess	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional	50
HP:0100523	HP:0100523	Liver abscess	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	27
HP:0100523	HP:0100523	Liver abscess	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0100523	HP:0100523	Liver abscess	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	111
HP:0100523	HP:0100523	Liver abscess	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0100523	HP:0100523	Liver abscess	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional
HP:0100523	HP:0100523	Liver abscess	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0100523	HP:0100523	Liver abscess	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0100523	HP:0100523	Liver abscess	0	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67		58
HP:0100523	HP:0100523	Liver abscess	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	13
HP:0100523	HP:0100523	Liver abscess	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0100523	HP:0100523	Liver abscess	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	67
HP:0100523	HP:0100523	Liver abscess	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0100523	HP:0100523	Liver abscess	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional	37
HP:0100523	HP:0100523	Liver abscess	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040284 - Very rare	563

Genes (12) :ABCB4 CTSC CYBA CYBB CYBC1 IGHG2 IGKC IRAK4 NCF1 NCF2 NCF4 PKHD1

Diseases (10) :ORPHA:69663 ORPHA:678 ORPHA:379 OMIM:233690 OMIM:306400 ORPHA:183675 OMIM:607676 OMIM:233700 OMIM:233710 ORPHA:53035

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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