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 mouth (HP:0000153)

Parent Node:
Abnormal oral physiology (HP:0031815)

..Starting node
..Oral bleeding (HP:0040184)

Term ID:

40184

Name:

Oral bleeding

Synonym:

Oral bleeding; Oral haemorrhage; Oral hemorrhage

Definition:

Comments:

Reference:

HP:0040184

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of salivation (HP:0100755)

Halitosis (HP:0100812)

Impaired mastication (HP:0005216)

Oral cavity bleeding (HP:0030140)

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:0040184	HP:0040184	Oral bleeding	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040283 - Occasional	39
HP:0040184	HP:0040184	Oral bleeding	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65

Genes (2) :SERPINE1 WAS

Diseases (2) :ORPHA:465 OMIM:301000

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