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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Hypoplastic helices (HP:0008589)help
Term ID: 8589
Name: Hypoplastic helices
Synonym: Underdeveloped helices
Definition: Underdevelopment of the helix, i.e., of the outer rim of the pinna.
Comments:
Reference: HP:0008589
Genes and Diseases:
 
       Child Nodes:
........expandHypoplastic superior helix (HP:0008559) 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
..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
..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:0008589HP:0008589Hypoplastic helices0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0008589HP:0008589Hypoplastic helices0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0008589HP:0008589Hypoplastic helices0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040283 - Occasional184
HP:0008589HP:0008589Hypoplastic helices0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0008589HP:0008589Hypoplastic helices0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:0008589HP:0008589Hypoplastic helices0HOXA2 CL E G H31995103ORPHA:83463MicrotiaHP:0040282 - Frequent21
HP:0008589HP:0008589Hypoplastic helices0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040284 - Very rare641
HP:0008589HP:0008589Hypoplastic helices0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.3
HP:0008589HP:0008589Hypoplastic helices0PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 282
HP:0008589HP:0008589Hypoplastic helices0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0008589HP:0008559Hypoplastic superior helix1FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0008589HP:0008559Hypoplastic superior helix1GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0008589HP:0008559Hypoplastic superior helix1PLCB4 CL E G H53329059OMIM:614669Auriculocondylar syndrome 2.82
HP:0008589HP:0008559Hypoplastic superior helix1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12


Genes (10) :AASS AGO2 FOXP1 FRAS1 GNAI3 HOXA2 PAH PBX1 PLCB4 TFAP2A

Diseases (10) :ORPHA:2203 OMIM:619149 ORPHA:391372 OMIM:219000 OMIM:602483 ORPHA:83463 ORPHA:2209 OMIM:617641 OMIM:614669 OMIM:113620
 

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