Human Phenotype Ontology 
Grandparent Node:
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Abnormal rib cage morphology (HP:0001547)help
Parent Node:
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Abnormality of the ribs (HP:0000772)help
..Starting node
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Abnormality of the costochondral junction (HP:0000919)help
Term ID: 919
Name: Abnormality of the costochondral junction
Synonym: Costochondral juctions abnormal
Definition: Any anomaly of the costochondral junction. The costochondral junctions 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:0000919
Genes and Diseases:
 
       Child Nodes:
........expandBulging of the costochondral junction (HP:0000893) help
........expandRachitic rosary (HP:0000897) help
........expandWide-cupped costochondral junctions (HP:0000910) help
........expandEnlargement of the costochondral junction (HP:0000920) help
........expandProgressive calcification of costochondral cartilage (HP:0006600) help
........expandIrregular chondrocostal junctions (HP:0006606) help
........expandPrecocious costochondral ossification (HP:0006607) help
........expandCostochondral joint sclerosis (HP:0006623) help
........expandCostochondral pain (HP:0006649) help

 Sister Nodes: 
..expandAbnormal rib ossification (HP:0012306) help
..expandAnomalous rib insertion to vertebrae (HP:0006593) help
..expandAplasia/Hypoplasia of the ribs (HP:0006712) help
..expandBeaded ribs (HP:0000923) help
..expandBifid ribs (HP:0000892) help
..expandBroad ribs (HP:0000885) help
..expandCalcification of ribs (HP:0040059) help
..expandCoat hanger sign of ribs (HP:0006665) help
..expandCupped ribs (HP:0000887) help
..expandFlaring of rib cage (HP:0000904) help
..expandHorizontal ribs (HP:0000888) help
..expandMultiple rib fractures (HP:0006640) help
..expandProminent floating ribs (HP:0006641) help
..expandRib exostoses (HP:0000896) help
..expandRib fusion (HP:0000902) help
..expandRib gap (HP:0030280) help
..expandRib segmentation abnormalities (HP:0006655) help
..expandSuperior rib anomalies (HP:0005820) help
..expandSupernumerary ribs (HP:0005815) help
..expandThickened ribs (HP:0000900) help
..expandThin ribs (HP:0000883) help
..expandUndulate ribs (HP:0010561) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000919HP:0000919Abnormality of the costochondral junction0 CL E G H
HP:0000919HP:0006649Costochondral pain1 CL E G H
HP:0000919HP:0000897Rachitic rosary1 CL E G H
HP:0000919HP:0006600Progressive calcification of costochondral cartilage1 CL E G H
HP:0000919HP:0006623Costochondral joint sclerosis1 CL E G H
HP:0000919HP:0006606Irregular chondrocostal junctions1 CL E G H
HP:0000919HP:0000893Bulging of the costochondral junction1 CL E G H
HP:0000919HP:0000920Enlargement of the costochondral junction1 CL E G H
HP:0000919HP:0000910Wide-cupped costochondral junctions1 CL E G H
HP:0000919HP:0006607Precocious costochondral ossification1 CL E G H


Genes (14) :ALPL CTNS CYP27B1 CYP2R1 DDR2 DNAJC21 DYM FGFR3 NOG PHEX SBDS SLC34A3 SRP54 VDR

Diseases (14) :241510 241500 219800 264700 600081 271665 260400 223800 187600 187601 186500 89936 241530 277440
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.