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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:Maffucci syndrome
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Accession:DOID:0060221 term browser browse the term
Definition:A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. (DO)
Synonyms:exact_synonym: MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE
 primary_id: OMIM:614569
 alt_id: RDO:9003248
 xref: GARD:6958;   ORDO:163634


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Maffucci syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:7718873 PMID:8710906 PMID:9166859 PMID:9416844 PMID:11687599 More... NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:25741868 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:25741868 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE ClinVar PMID:19657110 PMID:20946881 PMID:22160010 PMID:22397365 PMID:22417203 More... NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Kdm4c lysine demethylase 4C ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:25741868 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:9663592 PMID:16884327 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      Maffucci syndrome 6
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      musculoskeletal system disease 8202
        connective tissue disease 5695
          bone disease 4209
            bone development disease 2248
              osteochondrodysplasia 847
                Maffucci syndrome 6
paths to the root