Human Phenotype Ontology 
Grandparent Node:
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Neoplasm of the skeletal system (HP:0010622)help
Parent Node:
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Abnormal cartilage morphology (HP:0002763)help
Parent Node:
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Enchondroma (HP:0030038)help
..Starting node
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Multiple enchondromatosis (HP:0005701)help
Term ID: 5701
Name: Multiple enchondromatosis
Synonym:
Definition:
Comments:
Reference: HP:0005701
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005701HP:0005701Multiple enchondromatosis0COL2A1 CL E G H12802200ORPHA:85198DysspondyloenchondromatosisHP:0040281 - Very frequent284
HP:0005701HP:0005701Multiple enchondromatosis0IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040281 - Very frequent15
HP:0005701HP:0005701Multiple enchondromatosis0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0005701HP:0005701Multiple enchondromatosis0IDH1 CL E G H34175382ORPHA:296Ollier diseaseHP:0040281 - Very frequent15
HP:0005701HP:0005701Multiple enchondromatosis0IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040281 - Very frequent29
HP:0005701HP:0005701Multiple enchondromatosis0IDH2 CL E G H34185383ORPHA:296Ollier diseaseHP:0040281 - Very frequent29
HP:0005701HP:0005701Multiple enchondromatosis0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0005701HP:0005701Multiple enchondromatosis0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0005701HP:0005701Multiple enchondromatosis0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0005701HP:0005701Multiple enchondromatosis0PTH1R CL E G H57459608ORPHA:296Ollier diseaseHP:0040281 - Very frequent58
HP:0005701HP:0005701Multiple enchondromatosis0PTPN11 CL E G H57819644OMIM:156250METACHONDROMATOSIS.291
HP:0005701HP:0005701Multiple enchondromatosis0PTPN11 CL E G H57819644ORPHA:2499MetachondromatosisHP:0040281 - Very frequent291
HP:0005701HP:0005701Multiple enchondromatosis0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140


Genes (9) :COL2A1 IDH1 IDH2 POLR1B POLR1C POLR1D PTH1R PTPN11 TCOF1

Diseases (7) :ORPHA:85198 ORPHA:163634 ORPHA:99646 ORPHA:296 ORPHA:861 OMIM:156250 ORPHA:2499
 

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