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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:Hereditary Leiomyomatosis and Renal Cell Cancer
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Accession:DOID:9005510 term browser browse the term
Synonyms:exact_synonym: Cutaneous leiomyomata with uterine leiomyomata;   HLRCC;   LRCC;   Leiomyoma, hereditary multiple, of skin;   MCL;   MCUL1;   MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA;   Multiple cutaneous and uterine leiomyomata 1;   Multiple cutaneous and uterine leiomyomatosis;   Reed's syndrome;   multiple cutaneous leiomyoma
 primary_id: MESH:C535516
 alt_id: OMIM:150800
 xref: ORDO:523
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
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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 chrNW_004955406:10,455,367...10,461,934 JBrowse link
G Chrm3 cholinergic receptor muscarinic 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004955492:958,347...1,429,832
Ensembl chrNW_004955492:958,949...960,721
JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004955406:10,248,981...10,276,207
Ensembl chrNW_004955406:10,245,886...10,275,522
JBrowse link
G Fh fumarate hydratase ISO OMIM NCBI chrNW_004955406:10,535,801...10,558,649
Ensembl chrNW_004955406:10,535,323...10,561,627
JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004955406:11,358,585...11,666,102 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 chrNW_004955406:11,245,960...11,343,677
Ensembl chrNW_004955406:11,245,960...11,343,677
JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004955406:10,496,102...10,527,181
Ensembl chrNW_004955406:10,493,379...10,527,201
JBrowse link
G Map1lc3c microtubule associated protein 1 light chain 3 gamma ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004955406:5,769,894...5,774,806 JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004955406:10,450,810...10,493,958
Ensembl chrNW_004955406:10,450,768...10,493,958
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 chrNW_004955406:5,810,286...5,994,601
Ensembl chrNW_004955406:5,816,926...6,138,579
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 chrNW_004955406:10,669,127...11,127,564
Ensembl chrNW_004955406:10,670,009...11,127,757
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004955492:2,647,597...3,275,512
Ensembl chrNW_004955492:2,648,956...3,076,509
JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004955406:10,317,674...10,439,077
Ensembl chrNW_004955406:10,318,124...10,438,890
JBrowse link
G Zp4 zona pellucida glycoprotein 4 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004955492:2,599,579...2,606,837 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12744
    syndrome 6820
      Hereditary Neoplastic Syndromes 813
        Hereditary Leiomyomatosis and Renal Cell Cancer 14
Path 2
Term Annotations click to browse term
  disease 12744
    disease of anatomical entity 12425
      nervous system disease 10321
        peripheral nervous system disease 2306
          neuropathy 2137
            neuromuscular disease 1680
              muscular disease 1130
                muscle tissue disease 751
                  Muscle Tissue Neoplasms 137
                    leiomyoma 65
                      leiomyomatosis 15
                        Hereditary Leiomyomatosis and Renal Cell Cancer 14
paths to the root