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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:Infantile Myofibromatosis 2
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Accession:DOID:9002746 term browser browse the term
Synonyms:exact_synonym: IMF2
 primary_id: OMIM:615293
 alt_id: RDO:9000897


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Infantile Myofibromatosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Myofibromatosis, infantile, 2 OMIM
ClinVar		 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More... NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15289
    disease of cellular proliferation 7230
      benign neoplasm 2124
        organ system benign neoplasm 1241
          musculoskeletal system benign neoplasm 120
            connective tissue benign neoplasm 67
              infantile myofibromatosis 2
                Infantile Myofibromatosis 2 1
Path 2
Term Annotations click to browse term
  disease 15289
    disease of anatomical entity 14926
      nervous system disease 13021
        peripheral nervous system disease 4008
          neuropathy 3815
            neuromuscular disease 2988
              muscular disease 2097
                muscle tissue disease 1270
                  Muscle Tissue Neoplasms 177
                    musculoskeletal system benign neoplasm 120
                      connective tissue benign neoplasm 67
                        infantile myofibromatosis 2
                          Infantile Myofibromatosis 2 1
paths to the root