Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the outer ear (HP:0000356)help
Parent Node:
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Abnormal pinna morphology (HP:0000377)help
..Starting node
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Hypoplasia of the ear cartilage (HP:0100720)help
Term ID: 100720
Name: Hypoplasia of the ear cartilage
Synonym: Underdeveloped ear cartilage
Definition:
Comments:
Reference: HP:0100720
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal antihelix morphology (HP:0009738) help
..expandAbnormal antitragus morphology (HP:0009896) help
..expandAbnormal earlobe morphology (HP:0000363) help
..expandAbnormal helix morphology (HP:0011039) help
..expandAbnormal number of tubercles (HP:0040112) help
..expandAbnormal tragus morphology (HP:0009912) help
..expandAsymmetry of the ears (HP:0010722) help
..expandAuricular pit (HP:0030025) help
..expandAuricular tag (HP:0030021) help
..expandCalcification of the auricular cartilage (HP:0005103) help
..expandChondritis of pinna (HP:0200047) help
..expandCrumpled ear (HP:0009901) help
..expandCryptotia (HP:0011252) help
..expandCupped ear (HP:0000378) help
..expandCystic lesions of the pinnae (HP:0010723) help
..expandLong ear (HP:0400004) help
..expandLop ear (HP:0000394) help
..expandMacrotia (HP:0000400) help
..expandMicrotia (HP:0008551) help
..expandMozart ear (HP:0030677) help
..expandProtruding ear (HP:0000411) help
..expandQuelprud nodule (HP:0030023) help
..expandQuestion mark ear (HP:0030022) help
..expandRound ear (HP:0100830) help
..expandSatyr ear (HP:0030676) help
..expandShort ear (HP:0400005) help
..expandThickened ears (HP:0009894) 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:0100720HP:0100720Hypoplasia of the ear cartilage0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0100720HP:0100720Hypoplasia of the ear cartilage0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0100720HP:0100720Hypoplasia of the ear cartilage0LAGE3 CL E G H827026058ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent
HP:0100720HP:0100720Hypoplasia of the ear cartilage0NUP107 CL E G H5712229914ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent5
HP:0100720HP:0100720Hypoplasia of the ear cartilage0NUP133 CL E G H5574618016ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent1
HP:0100720HP:0100720Hypoplasia of the ear cartilage0OSGEP CL E G H5564418028ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent
HP:0100720HP:0100720Hypoplasia of the ear cartilage0TP53RK CL E G H11285816197ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent
HP:0100720HP:0100720Hypoplasia of the ear cartilage0TPRKB CL E G H5100224259ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent
HP:0100720HP:0100720Hypoplasia of the ear cartilage0WDR4 CL E G H1078512756ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent
HP:0100720HP:0100720Hypoplasia of the ear cartilage0WDR73 CL E G H8494225928ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent14


Genes (10) :CD96 DDR2 LAGE3 NUP107 NUP133 OSGEP TP53RK TPRKB WDR4 WDR73

Diseases (3) :ORPHA:1308 OMIM:618175 ORPHA:2065
 

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