Human Phenotype Ontology 
Grandparent Node:
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Abnormal pinna morphology (HP:0000377)help
Parent Node:
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Abnormal helix morphology (HP:0011039)help
..Starting node
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Cleft helix (HP:0009902)help
Term ID: 9902
Name: Cleft helix
Synonym: Notched helix; Notching of the ear helix
Definition: A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.
Comments:
Reference: HP:0009902
Genes and Diseases:
 
       Child Nodes:
........expandCleft at the superior portion of the pinna (HP:0008537) help
........expandDarwin notch of helix (HP:0011260) help

 Sister Nodes: 
..expandAbnormal incisura morphology (HP:0031228) help
..expandAbnormality of the crus of the helix (HP:0009895) help
..expandAbnormally folded helix (HP:0008544) help
..expandCrimped helix (HP:0011262) help
..expandDarwin tubercle of helix (HP:0011261) help
..expandDiscontinuous ascending root of helix (HP:0011264) help
..expandHypoplastic helices (HP:0008589) help
..expandLong hairs growing from helix of pinna (HP:0008528) help
..expandPointed helix (HP:0100810) help
..expandPosterior helix pit (HP:0008523) help
..expandProminent ear helix (HP:0009904) help
..expandSquared superior portion of helix (HP:0030026) help
..expandThickened helices (HP:0000391) help
..expandThin ear helix (HP:0009905) 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:0009902HP:0009902Cleft helix0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent6
HP:0009902HP:0009902Cleft helix0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent2
HP:0009902HP:0009902Cleft helix0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:0009902HP:0009902Cleft helix0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent82
HP:0009902HP:0009902Cleft helix0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 282
HP:0009902HP:0011260Darwin notch of helix1 CL E G H
HP:0009902HP:0008537Cleft at the superior portion of the pinna1GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0009902HP:0008537Cleft at the superior portion of the pinna1PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82


Genes (3) :EDN1 GNAI3 PLCB4

Diseases (3) :ORPHA:137888 OMIM:602483 OMIM:614669
 

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