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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Ollier disease
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Accession:DOID:4624 term browser browse the term
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. (DO)
Synonyms:exact_synonym: DYSCHONDROPLASIA;   Dyschondroplasia and Cavernous Hemangioma;   ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE;   Enchondromatoses;   Enchondromatosis with Hemangiomata;   Enchondromatosis with Multiple Cavernous Hemangiomas;   Enchondromatosis, Multiple;   Hemangiomata with Dyschondroplasia;   Hemangiomatosis Chondrodystrophica;   Kast Syndrome;   Kast's syndrome;   Multiple Angiomas and Endochondromas;   Multiple Enchondroma;   Multiple Enchondromas;   Multiple Enchondroses;   Ollier's disease;   Olliers disease;   chondrodysplasia with hemangioma;   chondroplasia angiomatosis;   dyschondrodysplasia with hemangiomas;   enchondromatosis;   enchondromatosis with haemangiomata;   multiple enchondrosis;   osteochondromatosis
 primary_id: MESH:D004687
 alt_id: OMIM:166000
 xref: GARD:7251;   ICD10CM:Q78.4;   NCI:C3008;   NCI:C3213;   ORDO:296
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Ollier disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS ClinVar PMID:7550340 PMID:8981950 PMID:9326317 PMID:9521425 PMID:9620772 More... NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357
JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:79,665,415...79,798,077
Ensembl chr 3:79,665,415...79,798,059
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:22057236 NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:22057236 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20577567 PMID:21533187 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Ollier disease 5
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      musculoskeletal system disease 7137
        connective tissue disease 4900
          bone disease 3578
            bone development disease 1760
              osteochondrodysplasia 605
                Ollier disease 5
paths to the root