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

Grandparent Node:
Abnormality of prenatal development or birth (HP:0001197)

Parent Node:
Prenatal maternal abnormality (HP:0002686)

..Starting node
..Pregnancy exposure (HP:0031437)

Term ID:

31437

Name:

Pregnancy exposure

Synonym:

Exposure during pregnancy

Definition:

Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants.

Comments:

Reference:

HP:0031437

Genes and Diseases:

Child Nodes:

........

Maternal teratogenic exposure (HP:0011438)

Sister Nodes:

Abnormal maternal serum screening (HP:0011436)

Ectopic pregnancy (HP:0031456)

Hyperemesis gravidarum (HP:0012188)

Maternal autoimmune disease (HP:0011437)

Maternal diabetes (HP:0009800)

Maternal fever in pregnancy (HP:0030244)

Maternal hyperphenylalaninemia (HP:0100610)

Maternal seizure (HP:0100622)

Maternal thrombophilia (HP:0040222)

Maternal virilization in pregnancy (HP:0008072)

Skewed maternal X inactivation (HP:0012546)

Toxemia of pregnancy (HP:0100603)

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:0031437	HP:0031437	Pregnancy exposure	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip		99
HP:0031437	HP:0031437	Pregnancy exposure	0	MME CL E G H	4311	7154	ORPHA:69063	Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization	HP:0040281 - Very frequent	18
HP:0031437	HP:0031437	Pregnancy exposure	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip		12
HP:0031437	HP:0031437	Pregnancy exposure	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip		4
HP:0031437	HP:0031437	Pregnancy exposure	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040282 - Frequent	88
HP:0031437	HP:0031437	Pregnancy exposure	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip		140
HP:0031437	HP:0011438	Maternal teratogenic exposure	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	99
HP:0031437	HP:0011438	Maternal teratogenic exposure	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	12
HP:0031437	HP:0011438	Maternal teratogenic exposure	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	4
HP:0031437	HP:0011438	Maternal teratogenic exposure	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	140

Genes (6) :IRF6 MME MSX1 NECTIN1 SERPINC1 TP63

Diseases (3) :ORPHA:199302 ORPHA:69063 ORPHA:82

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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