Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of prenatal development or birth (HP:0001197)help
Parent Node:
expandPrenatal maternal abnormality (HP:0002686)help
..Starting node
..expandAbnormal maternal serum screening (HP:0011436)help
Term ID: 11436
Name: Abnormal maternal serum screening
Synonym:
Definition: An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.
Comments:
Reference: HP:0011436
Genes and Diseases:
 
       Child Nodes:
........expandLow maternal serum estriol (HP:0008073) help
........expandLow maternal serum alpha-fetoprotein (HP:0010570) help
........expandHigh maternal serum alpha-fetoprotein (HP:0011432) help
........expandHigh maternal serum chorionic gonadotropin (HP:0011433) help
........expandLow maternal serum chorionic gonadotropin (HP:0011434) help
........expandLow maternal serum PAPP-A (HP:0011435) help

 Sister Nodes: 
..expandEctopic pregnancy (HP:0031456) help
..expandHyperemesis gravidarum (HP:0012188) help
..expandMaternal autoimmune disease (HP:0011437) help
..expandMaternal diabetes (HP:0009800) help
..expandMaternal fever in pregnancy (HP:0030244) help
..expandMaternal hyperphenylalaninemia (HP:0100610) help
..expandMaternal seizure (HP:0100622) help
..expandMaternal thrombophilia (HP:0040222) help
..expandMaternal virilization in pregnancy (HP:0008072) help
..expandPregnancy exposure (HP:0031437) help
..expandSkewed maternal X inactivation (HP:0012546) help
..expandToxemia of pregnancy (HP:0100603) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011436HP:0011436Abnormal maternal serum screening0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency31
HP:0011436HP:0011436Abnormal maternal serum screening0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency31
HP:0011436HP:0011436Abnormal maternal serum screening0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis76
HP:0011436HP:0011436Abnormal maternal serum screening0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathy
HP:0011436HP:0011435Low maternal circulating PAPP-A concentration1 CL E G H
HP:0011436HP:0011434Low maternal circulating chorionic gonadotropin concentration1 CL E G H
HP:0011436HP:0011433High maternal circulating chorionic gonadotropin concentration1 CL E G H
HP:0011436HP:0010570Low maternal circulating alpha-fetoprotein concentration1 CL E G H
HP:0011436HP:0008073Low maternal circulating estriol concentration1CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0011436HP:0008073Low maternal circulating estriol concentration1CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0011436HP:0008073Low maternal circulating estriol concentration1POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0011436HP:0011432High maternal circulating alpha-fetoprotein concentration1RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040283 - Occasional


Genes (3) :CYP11A1 POR RNF13

Diseases (4) :ORPHA:168558 ORPHA:289548 OMIM:201750 ORPHA:544503
 

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