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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.


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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 chr10:11,835,472...11,845,833
Ensembl chr10:11,835,582...11,845,804
JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr14:51,818,625...52,363,662
Ensembl chr14:51,828,052...51,830,077
JBrowse link
G EXO1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr10:15,317,555...15,360,593
Ensembl chr10:15,317,581...15,359,839
JBrowse link
G FH fumarate hydratase ISO OMIM NCBI chr10:12,404,143...12,431,843
Ensembl chr10:12,404,176...12,431,801
JBrowse link
G FMN2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963
G GREM2 gremlin 2, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr10:11,884,198...11,904,249
Ensembl chr10:11,885,280...11,885,780
JBrowse link
G KMO kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr10:12,442,877...12,489,417
Ensembl chr10:12,431,982...12,490,409
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 chr10:15,371,182...15,379,067
Ensembl chr10:15,372,879...15,382,939
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 chr10:15,420,600...15,723,890
Ensembl chr10:15,419,652...15,723,241
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 chr10:11,950,897...12,322,382
Ensembl chr10:11,950,900...12,322,360
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,245...54,406,355
JBrowse link
G WDR64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr10:11,745,830...11,835,287
Ensembl chr10:11,746,559...11,835,219
JBrowse link
G ZP4 zona pellucida glycoprotein 4 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr14:53,577,138...53,584,544
Ensembl chr14:53,577,135...53,584,546
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13616
    syndrome 7173
      Hereditary Neoplastic Syndromes 854
        Hereditary Leiomyomatosis and Renal Cell Cancer 13
Path 2
Term Annotations click to browse term
  disease 13616
    disease of anatomical entity 13281
      nervous system disease 10996
        peripheral nervous system disease 2406
          neuropathy 2228
            neuromuscular disease 1762
              muscular disease 1180
                muscle tissue disease 785
                  Muscle Tissue Neoplasms 137
                    leiomyoma 64
                      leiomyomatosis 14
                        Hereditary Leiomyomatosis and Renal Cell Cancer 13
paths to the root