Human Phenotype Ontology

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:0012029	HP:0012029	Abnormal urine hormone level	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0012029	HP:0012029	Abnormal urine hormone level	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0012029	HP:0012029	Abnormal urine hormone level	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0012029	HP:0012029	Abnormal urine hormone level	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0012029	HP:0012029	Abnormal urine hormone level	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0012029	HP:0012029	Abnormal urine hormone level	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0012029	HP:0012029	Abnormal urine hormone level	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0012029	HP:0012029	Abnormal urine hormone level	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0012029	HP:0012029	Abnormal urine hormone level	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency		112
HP:0012029	HP:0012029	Abnormal urine hormone level	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0012029	HP:0012029	Abnormal urine hormone level	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0012029	HP:0012029	Abnormal urine hormone level	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0012029	HP:0012029	Abnormal urine hormone level	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome		79
HP:0012029	HP:0012029	Abnormal urine hormone level	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0012029	HP:0012029	Abnormal urine hormone level	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0012029	HP:0012029	Abnormal urine hormone level	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0012029	HP:0012029	Abnormal urine hormone level	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0012029	HP:0012029	Abnormal urine hormone level	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0012029	HP:0012029	Abnormal urine hormone level	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0012029	HP:0012029	Abnormal urine hormone level	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0012029	HP:0012029	Abnormal urine hormone level	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0012029	HP:0012029	Abnormal urine hormone level	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0012029	HP:0012029	Abnormal urine hormone level	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0012029	HP:0012029	Abnormal urine hormone level	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0012029	HP:0012029	Abnormal urine hormone level	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0012029	HP:0032331	Increased urinary 11-deoxytetrahydrocorticosterone level	1	CL E G H
HP:0012029	HP:0032329	Increased urinary 11-deoxycortisol level	1	CL E G H
HP:0012029	HP:0003492	High urinary gonadotropin level	1	CL E G H
HP:0012029	HP:0012030	Increased urinary cortisol level	1	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0012029	HP:0012030	Increased urinary cortisol level	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0012029	HP:0012030	Increased urinary cortisol level	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0012029	HP:0012030	Increased urinary cortisol level	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0012029	HP:0012030	Increased urinary cortisol level	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0012029	HP:0012030	Increased urinary cortisol level	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0012029	HP:0012030	Increased urinary cortisol level	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0012029	HP:0012030	Increased urinary cortisol level	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0012029	HP:0032330	Increased urinary 11-deoxycorticosterone level	1	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040281 - Very frequent	112
HP:0012029	HP:0032330	Increased urinary 11-deoxycorticosterone level	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040281 - Very frequent	53
HP:0012029	HP:0012030	Increased urinary cortisol level	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0012029	HP:0012030	Increased urinary cortisol level	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0012029	HP:0012030	Increased urinary cortisol level	1	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040281 - Very frequent	79
HP:0012029	HP:0012030	Increased urinary cortisol level	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0012029	HP:0012030	Increased urinary cortisol level	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0012029	HP:0012030	Increased urinary cortisol level	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0012029	HP:0012030	Increased urinary cortisol level	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0012029	HP:0012030	Increased urinary cortisol level	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0012029	HP:0012030	Increased urinary cortisol level	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0012029	HP:0012030	Increased urinary cortisol level	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0012029	HP:0012030	Increased urinary cortisol level	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0012029	HP:0012030	Increased urinary cortisol level	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0012029	HP:0012030	Increased urinary cortisol level	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0012029	HP:0012030	Increased urinary cortisol level	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0012029	HP:0012030	Increased urinary cortisol level	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent