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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: MIM: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 5:109,100,763...109,114,448
Ensembl chr 5:109,100,772...109,119,248 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:25741868 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:25741868 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:25741868 PMID:27993330 PMID:30231226 NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:74,027,892...74,049,555 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:39434542 NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:143,439,323...143,467,248 		JBrowse link
G Kdm4c lysine demethylase 4C ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:25741868 NCBI chr 5:93,146,404...93,353,040
Ensembl chr 5:93,146,969...93,353,040 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Maffucci syndrome ClinVar PMID:9067265 PMID:9663592 PMID:16884327 PMID:20151405 PMID:24728327 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      Maffucci syndrome 7
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      Skin and Connective Tissue Diseases 7795
        connective tissue disease 5931
          bone disease 4372
            bone development disease 2347
              osteochondrodysplasia 836
                Maffucci syndrome 7
paths to the root