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 circulating glucocorticoid level (HP:0012111)

Parent Node:
Abnormality of circulating cortisol level (HP:0011731)

..Starting node
..Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)

Term ID:

3466

Name:

Paradoxical increased cortisol secretion on dexamethasone suppression test

Synonym:

Definition:

Comments:

Reference:

HP:0003466

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating cortisol level (HP:0008163)

Increased circulating cortisol level (HP:0003118)

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:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0003466	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent

Genes (17) :ARMC5 ATRX BRAF CDH23 CDKN2A CTNNB1 GNAS NR3C1 PDE11A PDE8B PRKACA PRKAR1A TERT TP53 USP48 USP8 ZNRF3

Diseases (6) :ORPHA:189427 ORPHA:96253 ORPHA:1501 OMIM:610475 ORPHA:189439 OMIM:610489

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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