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 bleeding (HP:0001892)

Parent Node:
Abnormal oral physiology (HP:0031815)

..Starting node
..Oral cavity bleeding (HP:0030140)

Term ID:

30140

Name:

Oral cavity bleeding

Synonym:

Bleeding from mouth; Oral cavity bleeding; Oral cavity haemorrhage; Oral cavity hemorrhage

Definition:

Recurrent or excessive bleeding from the mouth.

Comments:

Reference:

HP:0030140

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of salivation (HP:0100755)

Halitosis (HP:0100812)

Impaired mastication (HP:0005216)

Oral bleeding (HP:0040184)

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:0030140	HP:0030140	Oral cavity bleeding	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	101
HP:0030140	HP:0030140	Oral cavity bleeding	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040283 - Occasional	33
HP:0030140	HP:0030140	Oral cavity bleeding	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	60
HP:0030140	HP:0030140	Oral cavity bleeding	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	32
HP:0030140	HP:0030140	Oral cavity bleeding	0	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040283 - Occasional	44
HP:0030140	HP:0030140	Oral cavity bleeding	0	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040283 - Occasional	159
HP:0030140	HP:0030140	Oral cavity bleeding	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040282 - Frequent	303
HP:0030140	HP:0030140	Oral cavity bleeding	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0030140	HP:0030140	Oral cavity bleeding	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0030140	HP:0030140	Oral cavity bleeding	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional	1
HP:0030140	HP:0030140	Oral cavity bleeding	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0030140	HP:0030140	Oral cavity bleeding	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0030140	HP:0030140	Oral cavity bleeding	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0030140	HP:0030140	Oral cavity bleeding	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	3
HP:0030140	HP:0030140	Oral cavity bleeding	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	134
HP:0030140	HP:0030140	Oral cavity bleeding	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional
HP:0030140	HP:0030140	Oral cavity bleeding	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	2
HP:0030140	HP:0030140	Oral cavity bleeding	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	110
HP:0030140	HP:0030140	Oral cavity bleeding	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0030140	HP:0030140	Oral cavity bleeding	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	22
HP:0030140	HP:0030140	Oral cavity bleeding	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	1

Genes (21) :BCOR F10 F13A1 F13B F2 F5 F8 FIP1L1 IRF2BP2 KIF23 NABP1 NPM1 NUMA1 PML PRKAR1A RACGAP1 RARA STAT3 STAT5B TBL1XR1 ZBTB16

Diseases (7) :ORPHA:520 ORPHA:328 ORPHA:331 ORPHA:325 ORPHA:326 ORPHA:169802 ORPHA:98870

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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