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:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		95
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma		95
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma		636
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma		636
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency		112
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia		101
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	94
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1		94
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma		462
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	26
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	MRAP CL E G H	56246	1304	OMIM:607398	Glucocorticoid deficiency 2		26
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	13
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome		79
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	POR CL E G H	5447	9208	OMIM:613571	Disordered steroidogenesis due to cytochrome P450 oxidoreductase		76
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism		54
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism		24
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	45
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	85
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011043	HP:0011043	Abnormal circulating adrenocorticotropin concentration	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic		7
HP:0011043	HP:0003154	Increased circulating ACTH level	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	95
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0011043	HP:0003154	Increased circulating ACTH level	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011043	HP:0003154	Increased circulating ACTH level	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare	169
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0011043	HP:0003154	Increased circulating ACTH level	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011043	HP:0003154	Increased circulating ACTH level	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	636
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0011043	HP:0003154	Increased circulating ACTH level	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0011043	HP:0003154	Increased circulating ACTH level	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0011043	HP:0003154	Increased circulating ACTH level	1	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040282 - Frequent	112
HP:0011043	HP:0003154	Increased circulating ACTH level	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	21
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	51
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	43
HP:0011043	HP:0003154	Increased circulating ACTH level	1	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1	.	94
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	462
HP:0011043	HP:0003154	Increased circulating ACTH level	1	MRAP CL E G H	56246	1304	OMIM:607398	Glucocorticoid deficiency 2	.	26
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0011043	HP:0003154	Increased circulating ACTH level	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011043	HP:0003154	Increased circulating ACTH level	1	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040281 - Very frequent	79
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0011043	HP:0003154	Increased circulating ACTH level	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0011043	HP:0003154	Increased circulating ACTH level	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent	76
HP:0011043	HP:0003154	Increased circulating ACTH level	1	POR CL E G H	5447	9208	OMIM:613571	Disordered steroidogenesis due to cytochrome P450 oxidoreductase	.	76
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	36
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	54
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0011043	HP:0003154	Increased circulating ACTH level	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011043	HP:0002920	Decreased circulating ACTH level	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0011043	HP:0003154	Increased circulating ACTH level	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011043	HP:0003154	Increased circulating ACTH level	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011043	HP:0003154	Increased circulating ACTH level	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7