Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal cartilage morphology (HP:0002763)help
Grandparent Node:
expand
Ectopic calcification (HP:0010766)help
Parent Node:
expand
Abnormal pinna morphology (HP:0000377)help
Parent Node:
expand
Abnormality of cartilage of external ear (HP:3000022)help
Parent Node:
expand
Calcification of cartilage (HP:0100593)help
..Starting node
..expand
Calcification of the auricular cartilage (HP:0005103)help
Term ID: 5103
Name: Calcification of the auricular cartilage
Synonym: Cartilaginous ossification of pinnae; Ear cartilage calcification; Ossification of pinnae; Petrified ear
Definition: Ossification affecting the external ear cartilage.
Comments:
Reference: HP:0005103
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCostal cartilage calcification (HP:0006646) help
..expandProgressive calcification of costochondral cartilage (HP:0006600) help
..expandStippled chondral calcification (HP:0002764) 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:0005103HP:0005103Calcification of the auricular cartilage0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare415
HP:0005103HP:0005103Calcification of the auricular cartilage0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare151
HP:0005103HP:0005103Calcification of the auricular cartilage0MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0005103HP:0005103Calcification of the auricular cartilage0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040281 - Very frequent17
HP:0005103HP:0005103Calcification of the auricular cartilage0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17


Genes (4) :ABCC6 ENPP1 MGP ZBTB20

Diseases (4) :ORPHA:51608 OMIM:245150 ORPHA:3042 OMIM:259050
 

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