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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Round ear (HP:0100830)help
Term ID: 100830
Name: Round ear
Synonym: Round ear
Definition:
Comments:
Reference: HP:0100830
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
..expandHypoplasia of the ear cartilage (HP:0100720) 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
..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:0100830HP:0100830Round ear0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0100830HP:0100830Round ear0MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent166
HP:0100830HP:0100830Round ear0NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent48
HP:0100830HP:0100830Round ear0PSMC3 CL E G H57029549OMIM:619354DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0100830HP:0100830Round ear0TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent37
HP:0100830HP:0100830Round ear0TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent43
HP:0100830HP:0100830Round ear0TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent54


Genes (7) :CEP57 MYH3 NALCN PSMC3 TNNI2 TNNT3 TPM2

Diseases (3) :OMIM:614114 ORPHA:1147 OMIM:619354
 

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