Human Phenotype Ontology 
Grandparent Node:
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Abnormal rib morphology (HP:0000772)help
Parent Node:
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Abnormality of the costochondral junction (HP:0000919)help
..Starting node
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Enlargement of the costochondral junction (HP:0000920)help
Term ID: 920
Name: Enlargement of the costochondral junction
Synonym: Costochondral thickening; Enlarged costochondral junctions; Prominent costochondral junction; Wide costochondral junctions; Widened costochondral junction
Definition: Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
Comments:
Reference: HP:0000920
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBulging of the costochondral junction (HP:0000893) help
..expandCostochondral joint sclerosis (HP:0006623) help
..expandCostochondral pain (HP:0006649) 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:0000920HP:0000920Enlargement of the costochondral junction0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent41
HP:0000920HP:0000920Enlargement of the costochondral junction0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0000920HP:0000920Enlargement of the costochondral junction0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent5
HP:0000920HP:0000920Enlargement of the costochondral junction0CYP2R1 CL E G H12022720580OMIM:600081Vitamin D hydroxylation-deficient rickets, type 1B.5
HP:0000920HP:0000920Enlargement of the costochondral junction0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0000920HP:0000920Enlargement of the costochondral junction0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0000920HP:0000920Enlargement of the costochondral junction0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0000920HP:0000920Enlargement of the costochondral junction0PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemiaHP:0040283 - Occasional217
HP:0000920HP:0000920Enlargement of the costochondral junction0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000920HP:0000920Enlargement of the costochondral junction0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0000920HP:0000920Enlargement of the costochondral junction0SLC34A3 CL E G H14268020305OMIM:241530Hypophosphatemic rickets with hypercalciuria, hereditary.52
HP:0000920HP:0000920Enlargement of the costochondral junction0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.


Genes (10) :CYP27B1 CYP2R1 DNAJC21 DYM NOG PHEX PRKG2 SBDS SLC34A3 SRP54

Diseases (9) :ORPHA:289157 OMIM:264700 OMIM:600081 OMIM:260400 OMIM:223800 OMIM:186500 ORPHA:89936 OMIM:619636 OMIM:241530
 

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