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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:leiomyomatosis
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Accession:DOID:5138 term browser browse the term
Definition:A leiomyoma that is multiple and diffuse. (DO)
Synonyms:exact_synonym: leiomyomatoses
 primary_id: MESH:D018231
 xref: ICDO:8890/1;   NCI:C3748
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
leiomyomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd44 CD44 molecule ISO RGD PMID:15762960 RGD:2296043 NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:89,157,058...89,244,620
JBrowse link
Hereditary Leiomyomatosis and Renal Cell Cancer term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chml CHM like Rab escort protein ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:87,609,647...87,619,868
Ensembl chr13:87,589,298...87,619,862
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:64,696,549...65,158,622
Ensembl chr17:60,005,202...60,467,278
JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:90,341,947...90,366,861
Ensembl chr13:87,809,810...87,834,654
JBrowse link
G Fh fumarate hydratase ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FH-related condition | ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer | ClinVar Annotator: match by term: Leiomyoma, multiple cutaneous | ClinVar Annotator: match by term: MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA
OMIM
CTD
ClinVar
RGD
PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 More... RGD:1598939 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:88,986,863...89,303,789
Ensembl chr13:86,453,926...86,771,411
JBrowse link
G Grem2 gremlin 2, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:89,310,897...89,403,856
Ensembl chr13:86,778,500...86,871,615
JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:90,089,340...90,121,108
Ensembl chr13:87,557,286...87,588,881
JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:87,589,333...87,619,847
Ensembl chr13:87,589,333...87,619,847
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:90,426,689...90,765,072
Ensembl chr13:87,896,369...88,232,868
JBrowse link
G Rgs7 regulator of G-protein signaling 7 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:86,979,269...87,408,834
Ensembl chr13:86,979,279...87,408,888
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:63,081,527...63,667,141
Ensembl chr17:58,389,925...58,975,142
JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:87,624,588...87,746,749
Ensembl chr13:87,624,607...87,747,327
JBrowse link
G Zp4 zona pellucida glycoprotein 4 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:63,697,147...63,703,700
Ensembl chr17:59,005,649...59,012,202
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    disease of cellular proliferation 7892
      benign neoplasm 2223
        cell type benign neoplasm 1960
          leiomyoma 75
            leiomyomatosis 14
              Hereditary Leiomyomatosis and Renal Cell Cancer 13
              LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME 0
              Leiomyoma of Vulva and Esophagus 0
              diffuse peritoneal leiomyomatosis 0
              intravenous leiomyomatosis 0
              uterine corpus leiomyomatosis + 0
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        peripheral nervous system disease 4387
          neuropathy 4175
            neuromuscular disease 3222
              muscular disease 2230
                muscle tissue disease 1355
                  Muscle Tissue Neoplasms 188
                    leiomyoma 75
                      leiomyomatosis 14
                        Hereditary Leiomyomatosis and Renal Cell Cancer 13
                        LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME 0
                        Leiomyoma of Vulva and Esophagus 0
                        diffuse peritoneal leiomyomatosis 0
                        intravenous leiomyomatosis 0
                        uterine corpus leiomyomatosis + 0
paths to the root