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:
Abnormal circulating hormone concentration (HP:0003117)

Parent Node:
Abnormality of circulating glucocorticoid level (HP:0012111)

..Starting node
..Abnormal circulating corticosterone level (HP:0012112)

Term ID:

12112

Name:

Abnormal circulating corticosterone level

Synonym:

Abnormality of circulating corticosterone level

Definition:

An abnormality of the concentration of corticosterone in the blood.

Comments:

Reference:

HP:0012112

Genes and Diseases:

Child Nodes:

........

Abnormal circulating deoxycorticosterone level (HP:0031186)

Sister Nodes:

Abnormality of circulating cortisol level (HP:0011731)

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:0012112	HP:0012112	Abnormal circulating corticosterone level	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	2
HP:0012112	HP:0012112	Abnormal circulating corticosterone level	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040282 - Frequent	73
HP:0012112	HP:0012112	Abnormal circulating corticosterone level	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0012112	HP:0012112	Abnormal circulating corticosterone level	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent	53
HP:0012112	HP:0012112	Abnormal circulating corticosterone level	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0012112	HP:0012112	Abnormal circulating corticosterone level	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0012112	HP:0032363	Decreased circulating corticosterone level	1	CL E G H
HP:0012112	HP:0031186	Abnormal circulating deoxycorticosterone level	1	CL E G H
HP:0012112	HP:0032362	Increased circulating corticosterone level	1	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0012112	HP:0020198	Abnormal circulating 18-hydroxycorticosterone level	1	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0012112	HP:0032362	Increased circulating corticosterone level	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040281 - Very frequent	53
HP:0012112	HP:0032362	Increased circulating corticosterone level	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0012112	HP:0020199	Decreased circulating 18-hydroxycortisone level	2	CL E G H
HP:0012112	HP:0020200	Increased circulating 18-hydroxycortisone level	2	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73

Genes (4) :CYB5A CYP11B2 CYP17A1 POR

Diseases (5) :ORPHA:90796 ORPHA:556030 OMIM:610600 ORPHA:90793 ORPHA:95699

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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