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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
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Accession:DOID:0080109 term browser browse the term
Definition:A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. (DO)
Synonyms:exact_synonym: CGF;   congenital generalized fibromatosis;   juvenile myofibromatosis;   lipofibromatosis
 primary_id: MESH:C562978
 xref: GARD:2998;   OMIM:PS228550;   ORDO:2591


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infantile myofibromatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital generalized fibromatosis | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile
OMIM:228550 | OMIM:615293		 CTD
ClinVar
MouseDO		 PMID:9536098 PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 More... NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
Infantile Myofibromatosis 1 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, 1 ClinVar PMID:23731542 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 OMIM
ClinVar		 PMID:12181311 PMID:15054839 PMID:23731537 PMID:23731542 PMID:25292412 More... NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
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 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of cellular proliferation 7746
      benign neoplasm 2230
        organ system benign neoplasm 1302
          musculoskeletal system benign neoplasm 122
            connective tissue benign neoplasm 69
              infantile myofibromatosis 2
                Infantile Myofibromatosis 1 2
                Infantile Myofibromatosis 2 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        peripheral nervous system disease 4123
          neuropathy 3906
            neuromuscular disease 3058
              muscular disease 2147
                muscle tissue disease 1293
                  Muscle Tissue Neoplasms 179
                    musculoskeletal system benign neoplasm 122
                      connective tissue benign neoplasm 69
                        infantile myofibromatosis 2
                          Infantile Myofibromatosis 1 2
                          Infantile Myofibromatosis 2 1
paths to the root