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


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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: Multicentric osteolysis, nodulosis and arthropathy ClinVar NCBI chr19:15,470,177...15,540,704
Ensembl chr19:15,469,303...15,540,773
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis and arthropathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders
ClinVar Annotator: match by OMIM:259600
OMIM
ClinVar
CTD
PMID:2625626 PMID:6525336 PMID:10356396 PMID:11431697 PMID:15691365 PMID:16458924 PMID:16542393 PMID:17059372 PMID:17400654 PMID:19019335 PMID:20617897 PMID:20673868 PMID:21421877 PMID:23313298 PMID:23378725 PMID:25600631 PMID:25704319 PMID:25741868 PMID:27182040 PMID:28492532 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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: Multicentric carpo-tarsal osteolysis with or without nephropathy
ClinVar Annotator: match by term: Multicentric osteolysis nephropathy
ClinVar Annotator: match by OMIM:166300
OMIM
ClinVar
PMID:20436469 PMID:22387013 PMID:24989131 PMID:25741868 PMID:28492532 PMID:30208859 NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        bone disease 2997
          bone resorption disease 350
            Osteolysis 23
              Osteolysis Hereditary Multicentric 3
                multicentric carpotarsal osteolysis syndrome 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        connective tissue disease 3651
          bone disease 2997
            bone remodeling disease 432
              bone resorption disease 350
                Osteolysis 23
                  Osteolysis Hereditary Multicentric 3
                    multicentric carpotarsal osteolysis syndrome 1
paths to the root