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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Abnormal incisura morphology (HP:0031228)help
Term ID: 31228
Name: Abnormal incisura morphology
Synonym:
Definition: An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus.
Comments:
Reference: HP:0031228
Genes and Diseases:
 
       Child Nodes:
........expandIncreased incisura length (HP:0031229) help
........expandDecreased incisura length (HP:0031230) help
........expandNarrow incisura width (HP:0031231) help
........expandIncreased incisura width (HP:0031232) help

 Sister Nodes: 
..expandAbnormality of the crus of the helix (HP:0009895) help
..expandAbnormally folded helix (HP:0008544) help
..expandCleft helix (HP:0009902) 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:0031228HP:0031228Abnormal incisura morphology0HOXA2 CL E G H31995103OMIM:612290MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE21
HP:0031228HP:0031228Abnormal incisura morphology0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0031228HP:0031232Increased incisura width1 CL E G H
HP:0031228HP:0031231Narrow incisura width1 CL E G H
HP:0031228HP:0031230Decreased incisura length1 CL E G H
HP:0031228HP:0031229Increased incisura length1HOXA2 CL E G H31995103OMIM:612290MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE21


Genes (2) :HOXA2 NIPBL

Diseases (2) :OMIM:612290 OMIM:122470
 

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