Ollier disease

Summary
Synonym
  • DYSCHONDROPLASIA
  • ENCHONDROMATOSIS, MULTIPLE
  • Enchondromatosis with haemangiomata
  • Kast's syndrome
  • OSTEOCHONDROMATOSIS
Definition
A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet.
Super Class
syndrome
External Links
Disease Ontology
DOID:4624
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
2131 EXT1 exostosin glycosyltransferase 1
2132 EXT2 exostosin glycosyltransferase 2
3339 HSPG2 heparan sulfate proteoglycan 2
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
9469 CHST3 carbohydrate sulfotransferase 3
The Human Phenotype Ontology
Displaying entries 1 - 10 of 20 in total
HPO ID HPO Term
HP:0000826 Precocious puberty
HP:0000926 Platyspondyly
HP:0000944 Abnormal metaphysis morphology
HP:0001028 Hemangioma
HP:0001387 Joint stiffness
HP:0001482 Subcutaneous nodule
HP:0001903 Anemia
HP:0001928 Abnormality of coagulation
HP:0002653 Bone pain
HP:0002664 Neoplasm
Displaying all 2 entries
Gene ID Gene Symbol Description
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024