Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormal circulating hormone concentration (HP:0003117)

Parent Node:
Abnormal circulating androgen level (HP:0030347)

..Starting node
..Abnormal circulating dehydroepiandrosterone concentration (HP:0500022)

Term ID:

500022

Name:

Abnormal circulating dehydroepiandrosterone concentration

Synonym:

Abnormal serum androstenolone level; Abnormal serum dehydroepiandrosterone level; Abnormal serum DHEA

Definition:

A deviation from the normal concentration of dehydroepiandrosterone in the circulation.

Comments:

Reference:

HP:0500022

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating testosterone concentration (HP:0030087)

Decreased circulating androgen concentration (HP:0030349)

Increased circulating androgen concentration (HP:0030348)

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:0500022	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0500022	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0500022	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040281 - Very frequent	53
HP:0500022	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	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:0500022	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0500022	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0500022	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0500022	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0500022	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0500022	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0500022	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0500022	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0500022	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0500022	HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0500022	HP:0031214	Decreased circulating dehydroepiandrosterone concentration	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	94
HP:0500022	HP:0031214	Decreased circulating dehydroepiandrosterone concentration	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	26
HP:0500022	HP:0031214	Decreased circulating dehydroepiandrosterone concentration	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	13
HP:0500022	HP:0031214	Decreased circulating dehydroepiandrosterone concentration	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0500022	HP:0031214	Decreased circulating dehydroepiandrosterone concentration	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	45
HP:0500022	HP:0031214	Decreased circulating dehydroepiandrosterone concentration	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	85

Genes (13) :CDKN2A CTNNB1 CYP17A1 HSD3B2 MC2R MRAP NNT PRKAR1A STAR TERT TP53 TXNRD2 ZNRF3

Diseases (5) :ORPHA:1501 ORPHA:90793 ORPHA:90791 ORPHA:361 OMIM:610489

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen