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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
For additional species annotation, visit the Alliance of Genome Resources.



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Maffucci syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      Maffucci syndrome 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      musculoskeletal system disease 7179
        connective tissue disease 4971
          bone disease 3636
            bone development disease 1810
              osteochondrodysplasia 609
                Maffucci syndrome 1
paths to the root