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)

Grandparent Node:
Puberty and gonadal disorders (HP:0008373)

Parent Node:
Abnormal circulating progesterone level (HP:0031212)

..Starting node
..Increased circulating progesterone (HP:0031216)

Term ID:

31216

Name:

Increased circulating progesterone

Synonym:

Definition:

An elevated concentration of progesterone in the blood.

Comments:

Reference:

HP:0031216

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating progesterone (HP:0008233)

Elevated circulating 17-hydroxyprogesterone (HP:0031213)

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:0031216	HP:0031216	Increased circulating progesterone	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0031216	HP:0031216	Increased circulating progesterone	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent	76

Genes (2) :CYP17A1 POR

Diseases (2) :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.