Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skeletal morphology (HP:0011842)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Neoplasm of the skeletal system (HP:0010622)help
..Starting node
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Enchondroma (HP:0030038)help
Term ID: 30038
Name: Enchondroma
Synonym:
Definition: A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.
Comments:
Reference: HP:0030038
Genes and Diseases:
 
       Child Nodes:
........expandMultiple enchondromatosis (HP:0005701) help

 Sister Nodes: 
..expandChondroblastoma (HP:0030432) help
..expandChondrosarcoma (HP:0006765) help
..expandChordoma (HP:0010762) help
..expandExostoses (HP:0100777) help
..expandGiant cell tumor of bone (HP:0011847) help
..expandOsteoblastoma (HP:0011846) help
..expandOsteochondroma (HP:0030431) help
..expandOsteoma (HP:0100246) help
..expandOsteosarcoma (HP:0002669) 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:0030038HP:0030038Enchondroma0ADAR CL E G H10351ORPHA0654225146920
HP:0030038HP:0030038Enchondroma0ADAR CL E G H10351ORPHA0471225146920
HP:0030038HP:0030038Enchondroma0IFIH1 CL E G H6413551ORPHA071818873606951
HP:0030038HP:0030038Enchondroma0IFIH1 CL E G H6413551ORPHA047618873606951
HP:0030038HP:0030038Enchondroma0RNASEH2A CL E G H1053551ORPHA025918518606034
HP:0030038HP:0030038Enchondroma0RNASEH2A CL E G H1053551ORPHA018618518606034
HP:0030038HP:0030038Enchondroma0RNASEH2B CL E G H7962151ORPHA027225671610326
HP:0030038HP:0030038Enchondroma0RNASEH2B CL E G H7962151ORPHA019725671610326
HP:0030038HP:0030038Enchondroma0RNASEH2C CL E G H8415351ORPHA019124116610330
HP:0030038HP:0030038Enchondroma0RNASEH2C CL E G H8415351ORPHA014724116610330
HP:0030038HP:0030038Enchondroma0SAMHD1 CL E G H2593951ORPHA045415925606754
HP:0030038HP:0030038Enchondroma0SAMHD1 CL E G H2593951ORPHA032915925606754
HP:0030038HP:0030038Enchondroma0TREX1 CL E G H1127751ORPHA028912269606609
HP:0030038HP:0030038Enchondroma0TREX1 CL E G H1127751ORPHA019812269606609
HP:0030038HP:0005701Multiple enchondromatosis1ADAR CL E G H10351ORPHA0654225146920
HP:0030038HP:0005701Multiple enchondromatosis1ADAR CL E G H10351ORPHA0471225146920
HP:0030038HP:0005701Multiple enchondromatosis1IFIH1 CL E G H6413551ORPHA071818873606951
HP:0030038HP:0005701Multiple enchondromatosis1IFIH1 CL E G H6413551ORPHA047618873606951
HP:0030038HP:0005701Multiple enchondromatosis1RNASEH2A CL E G H1053551ORPHA025918518606034
HP:0030038HP:0005701Multiple enchondromatosis1RNASEH2A CL E G H1053551ORPHA018618518606034
HP:0030038HP:0005701Multiple enchondromatosis1RNASEH2B CL E G H7962151ORPHA027225671610326
HP:0030038HP:0005701Multiple enchondromatosis1RNASEH2B CL E G H7962151ORPHA019725671610326
HP:0030038HP:0005701Multiple enchondromatosis1RNASEH2C CL E G H8415351ORPHA019124116610330
HP:0030038HP:0005701Multiple enchondromatosis1RNASEH2C CL E G H8415351ORPHA014724116610330
HP:0030038HP:0005701Multiple enchondromatosis1SAMHD1 CL E G H2593951ORPHA045415925606754
HP:0030038HP:0005701Multiple enchondromatosis1SAMHD1 CL E G H2593951ORPHA032915925606754
HP:0030038HP:0005701Multiple enchondromatosis1TREX1 CL E G H1127751ORPHA028912269606609
HP:0030038HP:0005701Multiple enchondromatosis1TREX1 CL E G H1127751ORPHA019812269606609


Genes (15) :ADAR COL2A1 IDH1 IDH2 IFIH1 POLR1C POLR1D PTH1R PTPN11 RNASEH2A RNASEH2B RNASEH2C SAMHD1 TCOF1 TREX1

Diseases (7) :51 85198 163634 296 861 2499 156250
 

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