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 autoimmune disease (HP:0011437)

Term ID:

11437

Name:

Maternal autoimmune disease

Synonym:

Definition:

A medical history of a fetus or child born to a mother with an autoimmune disease.

Comments:

Reference:

HP:0011437

Genes and Diseases:

Child Nodes:

........

Maternal anticardiolipin antibody positive (HP:0012536)

Sister Nodes:

Abnormal maternal serum screening (HP:0011436)

Ectopic pregnancy (HP:0031456)

Hyperemesis gravidarum (HP:0012188)

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)

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:0011437	HP:0011437	Maternal autoimmune disease	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional	121
HP:0011437	HP:0012536	Maternal anticardiolipin antibody positive	1	CL E G H

Genes (1) :DUOX2

Diseases (1) :ORPHA:226316

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