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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:Osteolysis Hereditary Multicentric
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Accession:DOID:9006569 term browser browse the term
Synonyms:exact_synonym: Al-Aqeel Sewairi syndrome;   MONA;   MULTICENTRIC OSTEOLYSIS-NODULOSIS-ARTHROPATHY (MONA) SPECTRUM DISORDERS;   Multicentric Osteolysis, Nodulosis, and Arthropathy;   NAO SYNDROME;   Nodulosis-Arthropathy-Osteolysis Syndrome;   Torg Syndrome;   Torg osteolysis syndrome;   Torg-Winchester syndrome
 primary_id: MESH:C536051
 alt_id: OMIM:259600
 xref: ORDO:371428


show annotations for term's descendants           Sort by:
Osteolysis Hereditary Multicentric term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPCAT2 lysophosphatidylcholine acyltransferase 2 ISO ClinVar Annotator: match by term: Osteolysis, hereditary multicentric ClinVar NCBI chr 2:60,401,317...60,469,177
Ensembl chr 2:60,388,557...60,469,199 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders | ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis, and arthropathy | ClinVar Annotator: match by term: Osteolysis, hereditary multicentric OMIM
ClinVar		 PMID:2625626 PMID:6525336 PMID:9536098 PMID:10356396 PMID:11431697 More... NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
multicentric carpotarsal osteolysis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAFB MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: MAFB-related condition | ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy OMIM
ClinVar		 PMID:20436469 PMID:22387013 PMID:24989131 PMID:25741868 PMID:28492532 More... NCBI chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      musculoskeletal system disease 7742
        bone disease 3826
          bone resorption disease 185
            Osteolysis 36
              Osteolysis Hereditary Multicentric 3
                multicentric carpotarsal osteolysis syndrome 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      musculoskeletal system disease 7742
        connective tissue disease 5279
          bone disease 3826
            bone remodeling disease 294
              bone resorption disease 185
                Osteolysis 36
                  Osteolysis Hereditary Multicentric 3
                    multicentric carpotarsal osteolysis syndrome 1
paths to the root