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:
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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0100523	HP:0100523	Liver abscess	0	CYBA CL E G H	1535	233690	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	233690	C1856255	OMIM	1	454	2577	608508
HP:0100523	HP:0100523	Liver abscess	0	CYBB CL E G H	1536	306400	Chronic granulomatous disease, X-linked	306400	C1844376	OMIM	1	734	2578	300481
HP:0100523	HP:0100523	Liver abscess	0	NCF1 CL E G H	653361	233700	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1	233700	C1856251	OMIM	1	106	7660	608512
HP:0100523	HP:0100523	Liver abscess	0	NCF2 CL E G H	4688	233710	Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2	233710	C1856245	OMIM	1	448	7661	608515
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100523	HP:0100523	Liver abscess	0	CTSC CL E G H	1075	678				ORPHA	0	361	2528	602365
HP:0100523	HP:0100523	Liver abscess	0	CYBA CL E G H	1535	379				ORPHA	0	454	2577	608508
HP:0100523	HP:0100523	Liver abscess	0	CYBB CL E G H	1536	379				ORPHA	0	734	2578	300481
HP:0100523	HP:0100523	Liver abscess	0	CYBC1 CL E G H	79415	379				ORPHA	0	163	28672	0
HP:0100523	HP:0100523	Liver abscess	0	NCF1 CL E G H	653361	379				ORPHA	0	106	7660	608512
HP:0100523	HP:0100523	Liver abscess	0	NCF2 CL E G H	4688	379				ORPHA	0	448	7661	608515
HP:0100523	HP:0100523	Liver abscess	0	NCF4 CL E G H	4689	379				ORPHA	0	356	7662	601488

Genes (7) :CTSC CYBA CYBB CYBC1 NCF1 NCF2 NCF4

Diseases (6) :678 379 233690 306400 233700 233710

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