Human Phenotype Ontology

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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

..Starting node
..Abnormal circulating androstenedione concentration (HP:0033811)

Term ID:

33811

Name:

Abnormal circulating androstenedione concentration

Synonym:

Definition:

Any deviation from the normal concentration of androstenedione in the blood circulation.

Comments:

Reference:

HP:0033811

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0033811	HP:0033811	Abnormal circulating androstenedione concentration	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0033811	HP:0033811	Abnormal circulating androstenedione concentration	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0033811	HP:0033811	Abnormal circulating androstenedione concentration	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0033811	HP:0033811	Abnormal circulating androstenedione concentration	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency		112
HP:0033811	HP:0033811	Abnormal circulating androstenedione concentration	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0033811	HP:0033811	Abnormal circulating androstenedione concentration	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0033811	HP:0033811	Abnormal circulating androstenedione concentration	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0033811	HP:0033811	Abnormal circulating androstenedione concentration	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0033811	HP:0033811	Abnormal circulating androstenedione concentration	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0033811	HP:0033812	Decreased circulating androstenedione concentration	1	CL E G H
HP:0033811	HP:0025380	Increased circulating androstenedione concentration	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0033811	HP:0025380	Increased circulating androstenedione concentration	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0033811	HP:0025380	Increased circulating androstenedione concentration	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0033811	HP:0025380	Increased circulating androstenedione concentration	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:0033811	HP:0025380	Increased circulating androstenedione concentration	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:0033811	HP:0025380	Increased circulating androstenedione concentration	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0033811	HP:0025380	Increased circulating androstenedione concentration	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0033811	HP:0025380	Increased circulating androstenedione concentration	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0033811	HP:0025380	Increased circulating androstenedione concentration	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent

Genes (8) :CDKN2A CTNNB1 CYP11B1 HSD3B2 PRKAR1A TERT TP53 ZNRF3

Diseases (4) :ORPHA:1501 OMIM:202010 ORPHA:90795 ORPHA:90791

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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