Human Phenotype Ontology 
Grandparent Node:
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Abnormal rib morphology (HP:0000772)help
Parent Node:
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Abnormal sternum morphology (HP:0000766)help
Parent Node:
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Abnormality of the costochondral junction (HP:0000919)help
..Starting node
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Bulging of the costochondral junction (HP:0000893)help
Term ID: 893
Name: Bulging of the costochondral junction
Synonym:
Definition: Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.
Comments:
Reference: HP:0000893
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCostochondral joint sclerosis (HP:0006623) help
..expandCostochondral pain (HP:0006649) help
..expandEnlargement of the costochondral junction (HP:0000920) help
..expandIrregular chondrocostal junctions (HP:0006606) help
..expandPrecocious costochondral ossification (HP:0006607) help
..expandProgressive calcification of costochondral cartilage (HP:0006600) help
..expandRachitic rosary (HP:0000897) help
..expandWide-cupped costochondral junctions (HP:0000910) 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:0000893HP:0000893Bulging of the costochondral junction0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0000893HP:0000893Bulging of the costochondral junction0CYP2R1 CL E G H12022720580OMIM:600081Vitamin D hydroxylation-deficient rickets, type 1B.5
HP:0000893HP:0000893Bulging of the costochondral junction0SLC34A3 CL E G H14268020305OMIM:241530Hypophosphatemic rickets with hypercalciuria, hereditary.52
HP:0000893HP:0000893Bulging of the costochondral junction0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104


Genes (4) :CYP27B1 CYP2R1 SLC34A3 VDR

Diseases (4) :OMIM:264700 OMIM:600081 OMIM:241530 OMIM:277440
 

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