Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of prenatal development or birth (HP:0001197)help
Parent Node:
expand
Fetal ultrasound soft marker (HP:0011425)help
..Starting node
..expand
Hypoplasia of fetal nasal bone (HP:0011430)help
Term ID: 11430
Name: Hypoplasia of fetal nasal bone
Synonym: Hypoplasia of foetal nasal bone; Underdeveloped fetal nose bone; Underdeveloped foetal nose bone
Definition: On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637).
Comments:
Reference: HP:0011430
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsence of stomach bubble on fetal sonography (HP:0010963) help
..expandEchogenic fetal bowel (HP:0010943) help
..expandEchogenic intracardiac focus (HP:0010942) 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
..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:0011430HP:0011430Hypoplasia of fetal nasal bone0 CL E G H


Genes (0) :

Diseases (0) :
 

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