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 adrenal physiology (HP:0011733)

Parent Node:
Adrenal insufficiency (HP:0000846)

..Starting node
..Primary adrenal insufficiency (HP:0008207)

Term ID:

8207

Name:

Primary adrenal insufficiency

Synonym:

Addison disease; Addison's disease; Adrenocortical insufficiency; Primary adrenocortical failure

Definition:

Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.

Comments:

Reference:

HP:0008207

Genes and Diseases:

Child Nodes:

........

Decreased circulating aldosterone level (HP:0004319)

........

Decreased circulating cortisol level (HP:0008163)

Sister Nodes:

Central adrenal insufficiency (HP:0011734)

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:0008207	HP:0008207	Primary adrenal insufficiency	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy		135
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional	135
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040281 - Very frequent	135
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040281 - Very frequent	92
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	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:0008207	HP:0008207	Primary adrenal insufficiency	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency		112
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency		73
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism		73
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess		14
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess		14
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1		94
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	MRAP CL E G H	56246	1304	OMIM:607398	Glucocorticoid deficiency 2		26
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34	.	12
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.	48
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome		79
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	NR3C2 CL E G H	4306	7979	OMIM:605115	Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy		109
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency		65
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	169
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	169
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	75
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	75
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	4
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	4
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	65
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	65
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	66
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	66
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	46
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	46
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	59
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	59
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	62
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	62
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	82
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	82
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	106
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	106
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	47
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	47
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	99
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	99
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	98
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	98
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1		61
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2		57
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency		4
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated		57
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency		57
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0008207	HP:0008207	Primary adrenal insufficiency	0	TXNRD2 CL E G H	10587	18155	OMIM:617825	GLUCOCORTICOID DEFICIENCY 5; GCCD5		85
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040281 - Very frequent	135
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040281 - Very frequent	92
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0008207	HP:0008163	Decreased circulating cortisol 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:0008207	HP:0004319	Decreased circulating aldosterone 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:0008207	HP:0004319	Decreased circulating aldosterone 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:0008207	HP:0008163	Decreased circulating cortisol 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:0008207	HP:0004319	Decreased circulating aldosterone level	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0008207	HP:0008163	Decreased circulating cortisol 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:0008207	HP:0004319	Decreased circulating aldosterone level	1	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.	73
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040282 - Frequent	73
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess	.	14
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040282 - Frequent	14
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040280 - Obligate	94
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional	94
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1	.	94
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional	26
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040280 - Obligate	26
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	MRAP CL E G H	56246	1304	OMIM:607398	Glucocorticoid deficiency 2	.	26
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0008207	HP:0008163	Decreased circulating cortisol 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:0008207	HP:0004319	Decreased circulating aldosterone level	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional	13
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040280 - Obligate	13
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.	48
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.	48
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040281 - Very frequent	79
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	NR3C2 CL E G H	4306	7979	OMIM:605115	Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy	.	109
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency	.	65
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0008207	HP:0008163	Decreased circulating cortisol 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:0008207	HP:0008163	Decreased circulating cortisol level	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1	.	61
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2		57
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency		4
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional	45
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040280 - Obligate	45
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated	.	57
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040280 - Obligate	57
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0008207	HP:0004319	Decreased circulating aldosterone level	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional	85
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040280 - Obligate	85
HP:0008207	HP:0008163	Decreased circulating cortisol level	1	TXNRD2 CL E G H	10587	18155	OMIM:617825	GLUCOCORTICOID DEFICIENCY 5; GCCD5		85

Genes (56) :AAAS ABCD1 AIRE AKT1 BAP1 CYP11A1 CYP11B1 CYP11B2 CYP17A1 GATB GATC GLI3 HSD11B2 HSD17B4 HSD3B2 KANSL1 MC2R MRAP MRPS7 NF2 NFKB2 NNT NR0B1 NR3C1 NR3C2 PCSK1 PDGFB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3CA POR QRSL1 SCNN1B SCNN1G SERPINA6 SMARCB1 SMARCE1 SMO STAR SUFU TBX19 TCTN3 TERT TRAF7 TXNRD2

Diseases (45) :OMIM:231550 OMIM:300100 ORPHA:139399 ORPHA:139396 OMIM:240300 ORPHA:3453 ORPHA:2495 ORPHA:168558 ORPHA:289548 OMIM:202010 ORPHA:90795 OMIM:203400 ORPHA:556030 OMIM:610600 ORPHA:90793 OMIM:618838 OMIM:618839 ORPHA:672 OMIM:146510 OMIM:218030 ORPHA:320 OMIM:261515 ORPHA:90791 ORPHA:363958 ORPHA:363965 ORPHA:361 OMIM:202200 OMIM:607398 OMIM:617872 ORPHA:293978 OMIM:300200 ORPHA:786 OMIM:605115 OMIM:600955 ORPHA:44 ORPHA:912 ORPHA:95699 OMIM:618835 OMIM:177200 OMIM:618114 OMIM:611489 OMIM:201400 ORPHA:199296 ORPHA:2753 OMIM:617825

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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