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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: Angiomyxoma;   Angiomyxomas;   Myxomas
 primary_id: MESH:D009232;   RDO:0000784
For additional species annotation, visit the Alliance of Genome Resources.


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 chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
JBrowse link
Atrial Myxoma, Familial 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 ClinVar Annotator: match by OMIM:255960 OMIM
ClinVar
PMID:1263542, PMID:10973256 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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:22464252, PMID:23043190, PMID:23425300, PMID:24170103, PMID:25741868, PMID:28492532 NCBI chr10:97,962,467...98,017,171
Ensembl chr10:97,962,693...98,018,014
JBrowse link
G Myh8 myosin heavy chain 8 ISS OMIM:160980 | OMIM:605244 | OMIM:608837 MouseDO NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Carney complex, type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:160980
OMIM
ClinVar
CTD
PMID:10973256, PMID:10974026, PMID:11115848, PMID:12424709, PMID:15371594, PMID:15992699, PMID:16569736, PMID:17396442, PMID:18056771, PMID:18241045, PMID:19293268, PMID:20358582, PMID:21850686, PMID:22112814, PMID:22259056, PMID:22341669, PMID:22464252, PMID:22785148, PMID:23043190, PMID:23425300, PMID:23942052, PMID:24033266, PMID:24170103, PMID:24728327, PMID:25637381, PMID:25741868, PMID:26822237, PMID:27825928, PMID:27854218, PMID:27930734, PMID:28051113, PMID:28492532, PMID:28640241, PMID:29264456 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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 ClinVar Annotator: match by term: Carney complex variant OMIM
ClinVar
PMID:1600999, PMID:4443857, PMID:4837286, PMID:12800911, PMID:15282353, PMID:15590965, PMID:17041932, PMID:18049072, PMID:20949528, PMID:25741868 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
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 chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
X-linked cardiac valvular dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked
DNA:missense mutations, deletion:cds, exons, introns:multiple (human)
ClinVar Annotator: match by OMIM:314400
OMIM
ClinVar
PMID:240645, PMID:1854572, PMID:8230166, PMID:9497244, PMID:16299064, PMID:17190868, PMID:17632775, PMID:24088041, PMID:25741868, PMID:26633545, PMID:26686323, PMID:26804200, PMID:27739212, PMID:28492532, PMID:29237676, PMID:30986657, PMID:17190868 RGD:11565121 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        connective tissue disease 4096
          Connective Tissue Neoplasms 1391
            Myxoma 5
              Atrial Myxoma, Familial 1
              Carney complex + 3
              Neurothekeoma 0
              Odontogenic Myxoma 1
              X-linked cardiac valvular dysplasia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.