Human Phenotype Ontology 
Grandparent Node:
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Abnormality of prenatal development or birth (HP:0001197)help
Parent Node:
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Abnormal fetal cardiovascular morphology (HP:0010948)help
Parent Node:
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Fetal ultrasound soft marker (HP:0011425)help
..Starting node
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Echogenic intracardiac focus (HP:0010942)help
Term ID: 10942
Name: Echogenic intracardiac focus
Synonym:
Definition: A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.
Comments:
Reference: HP:0010942
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsence of stomach bubble on fetal sonography (HP:0010963) help
..expandEchogenic fetal bowel (HP:0010943) help
..expandEnlarged fetal cisterna magna (HP:0011427) help
..expandFetal choroid plexus cysts (HP:0011426) help
..expandFetal fifth finger clinodactyly (HP:0011431) help
..expandFetal pyelectasis (HP:0010945) help
..expandHypoplasia of fetal nasal bone (HP:0011430) help
..expandMild fetal ventriculomegaly (HP:0010952) help
..expandShort fetal femur length (HP:0011428) help
..expandShort fetal humerus length (HP:0011429) help
..expandSingle umbilical artery (HP:0001195) help
..expandThickened nuchal skin fold (HP:0000474) 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:0010942HP:0010942Echogenic intracardiac focus0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483


Genes (1) :RAC1

Diseases (1) :OMIM:617751
 

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