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

Parent Node:
Prenatal maternal abnormality (HP:0002686)

..Starting node
..Maternal virilization in pregnancy (HP:0008072)

Term ID:

8072

Name:

Maternal virilization in pregnancy

Synonym:

Definition:

Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum.

Comments:

Reference:

HP:0008072

Genes and Diseases:

Child Nodes:

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)

Pregnancy exposure (HP:0031437)

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:0008072	HP:0008072	Maternal virilization in pregnancy	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent	60
HP:0008072	HP:0008072	Maternal virilization in pregnancy	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0008072	HP:0008072	Maternal virilization in pregnancy	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76

Genes (2) :CYP19A1 POR

Diseases (3) :ORPHA:91 OMIM:201750 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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