Human Phenotype Ontology 
Grandparent Node:
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Abnormal 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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030038HP:0030038Enchondroma0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0030038HP:0030038Enchondroma0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare116
HP:0030038HP:0030038Enchondroma0COL2A1 CL E G H12802200ORPHA:85198Dysspondyloenchondromatosis284
HP:0030038HP:0030038Enchondroma0IDH1 CL E G H34175382ORPHA:163634Maffucci syndrome15
HP:0030038HP:0030038Enchondroma0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0030038HP:0030038Enchondroma0IDH1 CL E G H34175382ORPHA:296Ollier disease15
HP:0030038HP:0030038Enchondroma0IDH2 CL E G H34185383ORPHA:163634Maffucci syndrome29
HP:0030038HP:0030038Enchondroma0IDH2 CL E G H34185383ORPHA:296Ollier disease29
HP:0030038HP:0030038Enchondroma0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare28
HP:0030038HP:0030038Enchondroma0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare
HP:0030038HP:0030038Enchondroma0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0030038HP:0030038Enchondroma0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0030038HP:0030038Enchondroma0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0030038HP:0030038Enchondroma0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0030038HP:0030038Enchondroma0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0030038HP:0030038Enchondroma0PTH1R CL E G H57459608ORPHA:296Ollier disease58
HP:0030038HP:0030038Enchondroma0PTPN11 CL E G H57819644ORPHA:2499Metachondromatosis291
HP:0030038HP:0030038Enchondroma0PTPN11 CL E G H57819644OMIM:156250METACHONDROMATOSIS291
HP:0030038HP:0030038Enchondroma0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare33
HP:0030038HP:0030038Enchondroma0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare34
HP:0030038HP:0030038Enchondroma0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare60
HP:0030038HP:0030038Enchondroma0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare
HP:0030038HP:0030038Enchondroma0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare55
HP:0030038HP:0030038Enchondroma0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0030038HP:0030038Enchondroma0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040284 - Very rare56
HP:0030038HP:0005701Multiple enchondromatosis1COL2A1 CL E G H12802200ORPHA:85198DysspondyloenchondromatosisHP:0040281 - Very frequent284
HP:0030038HP:0005701Multiple enchondromatosis1IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040281 - Very frequent15
HP:0030038HP:0005701Multiple enchondromatosis1IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0030038HP:0005701Multiple enchondromatosis1IDH1 CL E G H34175382ORPHA:296Ollier diseaseHP:0040281 - Very frequent15
HP:0030038HP:0005701Multiple enchondromatosis1IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040281 - Very frequent29
HP:0030038HP:0005701Multiple enchondromatosis1IDH2 CL E G H34185383ORPHA:296Ollier diseaseHP:0040281 - Very frequent29
HP:0030038HP:0005701Multiple enchondromatosis1POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0030038HP:0005701Multiple enchondromatosis1POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0030038HP:0005701Multiple enchondromatosis1POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0030038HP:0005701Multiple enchondromatosis1PTH1R CL E G H57459608ORPHA:296Ollier diseaseHP:0040281 - Very frequent58
HP:0030038HP:0005701Multiple enchondromatosis1PTPN11 CL E G H57819644ORPHA:2499MetachondromatosisHP:0040281 - Very frequent291
HP:0030038HP:0005701Multiple enchondromatosis1PTPN11 CL E G H57819644OMIM:156250METACHONDROMATOSIS.291
HP:0030038HP:0005701Multiple enchondromatosis1TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140


Genes (21) :ACP5 ADAR COL2A1 IDH1 IDH2 IFIH1 LSM11 PDE11A POLR1B POLR1C POLR1D PRKAR1A PTH1R PTPN11 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 TCOF1 TREX1

Diseases (10) :ORPHA:1855 ORPHA:51 ORPHA:85198 ORPHA:163634 ORPHA:99646 ORPHA:296 ORPHA:1359 ORPHA:861 ORPHA:2499 OMIM:156250
 

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