Human Phenotype Ontology

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)

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

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

..Starting node
..Decreased circulating progesterone (HP:0008233)

Term ID:

8233

Name:

Decreased circulating progesterone

Synonym:

Decreased serum progesterone

Definition:

An reduced concentration of progesterone in the blood.

Comments:

Reference:

HP:0008233

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated circulating 17-hydroxyprogesterone (HP:0031213)

Increased circulating progesterone (HP:0031216)

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:0008233	HP:0008233	Decreased circulating progesterone	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0008233	HP:0008233	Decreased circulating progesterone	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0008233	HP:0008233	Decreased circulating progesterone	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0008233	HP:0008233	Decreased circulating progesterone	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0008233	HP:0008233	Decreased circulating progesterone	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0008233	HP:0008233	Decreased circulating progesterone	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0008233	HP:0008233	Decreased circulating progesterone	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76

Genes (7) :EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 FOXL2 POR

Diseases (3) :OMIM:603896 ORPHA:572333 OMIM:201750

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