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 abdominal organs (HP:0002012)

Parent Node:
Abnormality of the peritoneum (HP:0002585)

..Starting node
..Peritoneal abscess (HP:0100592)

Term ID:

100592

Name:

Peritoneal abscess

Synonym:

Definition:

The presence of an abscess of the peritoneum.

Comments:

Reference:

HP:0100592

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hemoperitoneum (HP:0011854)

Peritoneal effusion (HP:0030995)

Peritoneal mesothelioma (HP:0100003)

Peritonitis (HP:0002586)

Retroperitoneal fibrosis (HP:0005200)

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:0100592	HP:0100592	Peritoneal abscess	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	5769
HP:0100592	HP:0100592	Peritoneal abscess	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	7642
HP:0100592	HP:0100592	Peritoneal abscess	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	289
HP:0100592	HP:0100592	Peritoneal abscess	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	196
HP:0100592	HP:0100592	Peritoneal abscess	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	1349
HP:0100592	HP:0100592	Peritoneal abscess	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	192
HP:0100592	HP:0100592	Peritoneal abscess	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional	11
HP:0100592	HP:0100592	Peritoneal abscess	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0100592	HP:0100592	Peritoneal abscess	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	504
HP:0100592	HP:0100592	Peritoneal abscess	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	911
HP:0100592	HP:0100592	Peritoneal abscess	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional	26
HP:0100592	HP:0034493	Tubo-ovarian abscess	1	CL E G H

Genes (11) :BRCA1 BRCA2 CDKN2A KRAS PALB2 PALLD PI4KA RABL3 SMAD4 TP53 TTC7A

Diseases (2) :ORPHA:1333 ORPHA:436252

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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