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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:Myxoma
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Accession:DOID:9003253 term browser browse the term
Definition:A benign neoplasm derived from connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix, thereby resembling primitive mesenchymal tissue. It occurs frequently intramuscularly where it may be mistaken for a sarcoma. It appears also in the jaws and the skin. (From Stedman, 25th ed)
Synonyms:exact_synonym: Myxomas
 narrow_synonym: Angiomyxoma;   Angiomyxomas
 primary_id: MESH:D009232
 xref: EFO:1000087


show annotations for term's descendants           Sort by:
Myxoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO RGD PMID:10973256 RGD:1581267 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
Carney complex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 ClinVar PMID:11115848 PMID:19293268 PMID:24170103 PMID:25741868 PMID:28492532 NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO
ISS		 ClinVar Annotator: match by term: CARNEY MYXOMA-ENDOCRINE COMPLEX | ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 | ClinVar Annotator: match by term: Carney myxoma-endocrine complex | ClinVar Annotator: match by term: Myxoma, spotty pigmentation, and endocrine overactivity
OMIM:160980 | OMIM:605244 | OMIM:608837
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10973256 PMID:10974026 PMID:11115848 PMID:12213893 More... NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
Carney Complex Variant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh8 myosin heavy chain 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carney complex variant		 OMIM
CTD
ClinVar		 PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More... NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232 		JBrowse link
Familial Atrial Myxoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial atrial myxoma		 OMIM
CTD
ClinVar		 PMID:1263542 PMID:10973256 PMID:25741868 PMID:28492532 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
Odontogenic Myxoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO DNA:hypomethylation:promotor: RGD PMID:22011900 RGD:8547808 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
X-linked cardiac valvular dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked ClinVar PMID:10330348 PMID:12815592 PMID:19691550 PMID:21665257 PMID:23807571 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, deletion:cds, exons, introns:multiple (human)		 OMIM
ClinVar
CTD
RGD		 PMID:240645 PMID:1854572 PMID:8230166 PMID:9071288 PMID:9497244 More... RGD:11565121 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      musculoskeletal system disease 8463
        connective tissue disease 5917
          Connective Tissue Neoplasms 1738
            Myxoma 6
              Carney complex + 3
              Familial Atrial Myxoma 1
              Neurothekeoma 0
              Odontogenic Myxoma 1
              X-linked cardiac valvular dysplasia 2
paths to the root