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:
Prenatal maternal abnormality (HP:0002686)

Parent Node:
Pregnancy exposure (HP:0031437)

..Starting node
..Maternal teratogenic exposure (HP:0011438)

Term ID:

11438

Name:

Maternal teratogenic exposure

Synonym:

Definition:

A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy.

Comments:

Reference:

HP:0011438

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:0011438	HP:0011438	Maternal teratogenic exposure	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	99
HP:0011438	HP:0011438	Maternal teratogenic exposure	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	12
HP:0011438	HP:0011438	Maternal teratogenic exposure	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	4
HP:0011438	HP:0011438	Maternal teratogenic exposure	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	140

Genes (4) :IRF6 MSX1 NECTIN1 TP63

Diseases (1) :ORPHA:199302

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