Human Phenotype Ontology 
Grandparent Node:
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Abnormal pinna morphology (HP:0000377)help
Parent Node:
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Abnormal antihelix morphology (HP:0009738)help
..Starting node
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Abnormality of superior crus of antihelix (HP:0011245)help
Term ID: 11245
Name: Abnormality of superior crus of antihelix
Synonym: Abnormality of posterior crus of antihelix
Definition: An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.
Comments:
Reference: HP:0011245
Genes and Diseases:
 
       Child Nodes:
........expandUnderdeveloped superior crus of antihelix (HP:0011246) help
........expandProminent superior crus of antihelix (HP:0011247) help

 Sister Nodes: 
..expandAbnormality of inferior crus of antihelix (HP:0011243) help
..expandAbnormality of stem of antihelix (HP:0011244) help
..expandAbsent antihelix (HP:0011234) help
..expandAdditional crus of antihelix (HP:0011235) help
..expandAngulated antihelix (HP:0011236) help
..expandAntihelical shelf (HP:0011233) help
..expandHypoplasia of the antihelix (HP:0009739) help
..expandProminent antihelix (HP:0000395) 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:0011245HP:0011245Abnormality of superior crus of antihelix0FLNA CL E G H23163754OMIM:300321Fg syndrome 2493
HP:0011245HP:0011245Abnormality of superior crus of antihelix0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0011245HP:0011245Abnormality of superior crus of antihelix0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0011245HP:0011246Underdeveloped superior crus of antihelix1FLNA CL E G H23163754OMIM:300321Fg syndrome 2493
HP:0011245HP:0011247Prominent superior crus of antihelix1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040282 - Frequent37


Genes (3) :FLNA PIGN STEEP1

Diseases (3) :OMIM:300321 ORPHA:280633 OMIM:301013
 

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