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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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.


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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, PMID:10639137, PMID:10679296, PMID:10679937, PMID:10713884, PMID:11391482, PMID:11432960, PMID:15253765, PMID:16283885, PMID:17041877, PMID:18165274, PMID:18330718, PMID:19810120, PMID:20418910, PMID:22258776, PMID:23439489, PMID:25230886, PMID:25741868, PMID:26239617, PMID:26515642, PMID:26961984, PMID:28492532, PMID:29126381 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234, PMID:22057236 NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234, PMID:22057236 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20577567, PMID:21533187 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Ollier disease 4
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                Ollier disease 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.