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:
Adrenal insufficiency (HP:0000846)

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

Parent Node:
Primary adrenal insufficiency (HP:0008207)

..Starting node
..Decreased circulating cortisol level (HP:0008163)

Term ID:

8163

Name:

Decreased circulating cortisol level

Synonym:

Decreased cortisol production; Glucocorticoid insufficiency; Hypocortisolemia; Hypocortisolism; Low blood cortisol level; Low to undetectable plasma cortisol; Plasma cortisol low

Definition:

Abnormally reduced concentration of cortisol in the blood.

Comments:

Reference:

HP:0008163

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating aldosterone level (HP:0004319)

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:0008163	HP:0008163	Decreased circulating cortisol level	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040281 - Very frequent	135
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0008163	HP:0008163	Decreased circulating cortisol level	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:0008163	HP:0008163	Decreased circulating cortisol level	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:0008163	HP:0008163	Decreased circulating cortisol level	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040281 - Very frequent	112
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040280 - Obligate	94
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1	.	94
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040280 - Obligate	26
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	MRAP CL E G H	56246	1304	OMIM:607398	Glucocorticoid deficiency 2	.	26
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040280 - Obligate	13
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.	48
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency	.	65
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent	76
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency		4
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040280 - Obligate	45
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated	.	57
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040280 - Obligate	57
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040280 - Obligate	85
HP:0008163	HP:0008163	Decreased circulating cortisol level	0	TXNRD2 CL E G H	10587	18155	OMIM:617825	GLUCOCORTICOID DEFICIENCY 5; GCCD5		85

Genes (32) :AAAS ABCD1 AKT1 BAP1 CYP11A1 CYP11B1 CYP17A1 GATB GATC GLI3 HSD3B2 MC2R MRAP NF2 NFKB2 NNT NR0B1 PCSK1 PDGFB PIK3CA POR QRSL1 SERPINA6 SMARCB1 SMARCE1 SMO STAR SUFU TBX19 TERT TRAF7 TXNRD2

Diseases (23) :OMIM:231550 ORPHA:139396 ORPHA:2495 ORPHA:168558 ORPHA:289548 ORPHA:90795 ORPHA:90793 OMIM:618838 OMIM:618839 OMIM:146510 ORPHA:90791 ORPHA:361 OMIM:202200 OMIM:607398 ORPHA:293978 OMIM:300200 OMIM:600955 ORPHA:95699 OMIM:618835 OMIM:611489 OMIM:201400 ORPHA:199296 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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