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:
Abnormality of the abdominal organs (HP:0002012)

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

..Starting node
..Hemoperitoneum (HP:0011854)

Term ID:

11854

Name:

Hemoperitoneum

Synonym:

Hematoperitoneum

Definition:

Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.

Comments:

Reference:

HP:0011854

Genes and Diseases:

Child Nodes:

Sister Nodes:

Peritoneal abscess (HP:0100592)

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:0011854	HP:0011854	Hemoperitoneum	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040284 - Very rare	33
HP:0011854	HP:0011854	Hemoperitoneum	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040284 - Very rare	39

Genes (2) :F10 SERPINE1

Diseases (2) :ORPHA:328 ORPHA:465

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.