Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 urine homeostasis (HP:0003110)

Parent Node:
Abnormal urine hormone level (HP:0012029)

Parent Node:
Ketonuria (HP:0002919)

..Starting node
..Increased urinary cortisol level (HP:0012030)

Term ID:

12030

Name:

Increased urinary cortisol level

Synonym:

High urine cortisol level

Definition:

Abnormally increased concentration of cortisol in the urine.

Comments:

Reference:

HP:0012030

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0012030	HP:0012030	Increased urinary cortisol level	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0012030	HP:0012030	Increased urinary cortisol level	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0012030	HP:0012030	Increased urinary cortisol level	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0012030	HP:0012030	Increased urinary cortisol level	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0012030	HP:0012030	Increased urinary cortisol level	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0012030	HP:0012030	Increased urinary cortisol level	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0012030	HP:0012030	Increased urinary cortisol level	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0012030	HP:0012030	Increased urinary cortisol level	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0012030	HP:0012030	Increased urinary cortisol level	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0012030	HP:0012030	Increased urinary cortisol level	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0012030	HP:0012030	Increased urinary cortisol level	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040281 - Very frequent	79
HP:0012030	HP:0012030	Increased urinary cortisol level	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0012030	HP:0012030	Increased urinary cortisol level	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0012030	HP:0012030	Increased urinary cortisol level	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0012030	HP:0012030	Increased urinary cortisol level	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0012030	HP:0012030	Increased urinary cortisol level	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0012030	HP:0012030	Increased urinary cortisol level	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0012030	HP:0012030	Increased urinary cortisol level	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0012030	HP:0012030	Increased urinary cortisol level	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0012030	HP:0012030	Increased urinary cortisol level	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0012030	HP:0012030	Increased urinary cortisol level	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0012030	HP:0012030	Increased urinary cortisol level	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0012030	HP:0012030	Increased urinary cortisol level	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent

Genes (18) :ARMC5 ATRX BRAF CDH23 CDKN1B CDKN2A CTNNB1 GNAS NR3C1 PDE11A PDE8B PRKACA PRKAR1A TERT TP53 USP48 USP8 ZNRF3

Diseases (8) :OMIM:615954 ORPHA:189427 ORPHA:96253 ORPHA:276152 ORPHA:1501 ORPHA:786 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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