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:
Generalized abnormality of skin (HP:0011354)

Parent Node:
Dermatological manifestations of systemic disorders (HP:0001005)

..Starting node
..Plethora (HP:0001050)

Term ID:

1050

Name:

Plethora

Synonym:

Definition:

Comments:

Reference:

HP:0001050

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cyanosis (HP:0000961)

Jaundice (HP:0000952)

Warfarin-induced skin necrosis (HP:0001038)

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:0001050	HP:0001050	Plethora	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0001050	HP:0001050	Plethora	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001050	HP:0001050	Plethora	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001050	HP:0001050	Plethora	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001050	HP:0001050	Plethora	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0001050	HP:0001050	Plethora	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.	57
HP:0001050	HP:0001050	Plethora	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001050	HP:0001050	Plethora	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0001050	HP:0001050	Plethora	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0001050	HP:0001050	Plethora	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0001050	HP:0001050	Plethora	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0001050	HP:0001050	Plethora	0	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.	4
HP:0001050	HP:0001050	Plethora	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001050	HP:0001050	Plethora	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001050	HP:0001050	Plethora	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001050	HP:0001050	Plethora	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2	.	490

Genes (16) :ARMC5 ATRX BRAF CDH23 GNAS JAK2 NR3C1 PDE11A PDE8B PRKACA PRKAR1A SH2B3 TP53 USP48 USP8 VHL

Diseases (5) :ORPHA:189427 ORPHA:96253 OMIM:133100 ORPHA:189439 OMIM:263400

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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