Human Phenotype Ontology 
Grandparent Node:
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Abnormality of prenatal development or birth (HP:0001197)help
Parent Node:
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Dilatation of the renal pelvis (HP:0010946)help
Parent Node:
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Fetal ultrasound soft marker (HP:0011425)help
..Starting node
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Fetal pyelectasis (HP:0010945)help
Term ID: 10945
Name: Fetal pyelectasis
Synonym: Fetal renal pelvic dilatation; Foetal pyelectasis; Foetal renal pelvic dilatation; Mild fetal hydronephrosis; Mild foetal hydronephrosis
Definition: Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.
Comments:
Reference: HP:0010945
Genes and Diseases:
 
       Child Nodes:
........expandBilateral fetal pyelectasis (HP:0011129) help

 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
..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:0010945HP:0010945Fetal pyelectasis0BNC2 CL E G H5479630988ORPHA:93110Posterior urethral valveHP:0040283 - Occasional22
HP:0010945HP:0010945Fetal pyelectasis0CDC42BPB CL E G H95781738OMIM:619841
HP:0010945HP:0010945Fetal pyelectasis0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0010945HP:0010945Fetal pyelectasis0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0010945HP:0010945Fetal pyelectasis0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0010945HP:0010945Fetal pyelectasis0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0010945HP:0010945Fetal pyelectasis0MYL9 CL E G H1039815754OMIM:619365MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0010945HP:0010945Fetal pyelectasis0PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis11
HP:0010945HP:0010945Fetal pyelectasis0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0010945HP:0010945Fetal pyelectasis0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0010945HP:0010945Fetal pyelectasis0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0010945HP:0011129Bilateral fetal pyelectasis1PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246


Genes (10) :BNC2 CDC42BPB CLCN3 FGF13 KANSL1 MYL9 PI4KA PIGA TBCK ZBTB18

Diseases (11) :ORPHA:93110 OMIM:619841 OMIM:619512 OMIM:301058 ORPHA:363958 ORPHA:363965 OMIM:619365 OMIM:616531 OMIM:300868 OMIM:616900 OMIM:612337
 

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