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:
Abnormal maternal serum screening (HP:0011436)

..Starting node
..High maternal circulating alpha-fetoprotein concentration (HP:0011432)

Term ID:

11432

Name:

High maternal circulating alpha-fetoprotein concentration

Synonym:

High maternal serum alpha-fetoprotein; High maternal serum alpha-fetoprotein MoM; High MSAFP MoM; Increased maternal serum alpha-fetoprotein level; MSAFP MoM>2.5

Definition:

Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy.

Comments:

Reference:

HP:0011432

Genes and Diseases:

Child Nodes:

Sister Nodes:

High maternal circulating chorionic gonadotropin concentration (HP:0011433)

Low maternal circulating alpha-fetoprotein concentration (HP:0010570)

Low maternal circulating chorionic gonadotropin concentration (HP:0011434)

Low maternal circulating estriol concentration (HP:0008073)

Low maternal circulating PAPP-A concentration (HP:0011435)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011432	HP:0011432	High maternal circulating alpha-fetoprotein concentration	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional

Genes (1) :RNF13

Diseases (1) :ORPHA:544503

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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