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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 chr13:93,740,759...93,742,624 JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:63,990,599...64,463,222
Ensembl chr17:63,990,599...63,994,169
JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:93,936,989...93,962,749
Ensembl chr13:93,939,022...93,960,342
JBrowse link
G Fh fumarate hydratase ISO DNA:mutations:multiple (human)
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
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:9635293 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 PMID:15663510 PMID:15761418 PMID:15937070 PMID:16029320 PMID:16199547 PMID:16288654 PMID:16403393 PMID:16575891 PMID:16597677 PMID:16757530 PMID:16881969 PMID:17270241 PMID:17392716 PMID:17908262 PMID:17960613 PMID:18176756 PMID:18313410 PMID:18414213 PMID:19939761 PMID:19967458 PMID:20549362 PMID:20618355 PMID:21051878 PMID:21304509 PMID:21340633 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21520333 PMID:21630274 PMID:21733559 PMID:21929734 PMID:22069215 PMID:22127509 PMID:22243733 PMID:22528940 PMID:22561013 PMID:22565324 PMID:22595425 PMID:22703879 PMID:22764886 PMID:22982371 PMID:23211287 PMID:24419633 PMID:24441663 PMID:24625422 PMID:24684806 PMID:24728327 PMID:25292446 PMID:25477250 PMID:25525159 PMID:25741868 PMID:25750977 PMID:25852058 PMID:25923021 PMID:26023681 PMID:26173633 PMID:26296701 PMID:26323704 PMID:26457356 PMID:26556299 PMID:26900816 PMID:26945337 PMID:27037871 PMID:28289076 PMID:28300276 PMID:28492532 PMID:28873162 PMID:29423582 PMID:29909963 PMID:30013182 PMID:30548481 PMID:30761759 PMID:30967997 PMID:31444830 PMID:31831373, PMID:15937070 RGD:1598939 NCBI chr13:93,651,486...93,677,371
Ensembl chr13:93,651,484...93,677,377
JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:92,569,256...92,887,302 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 chr13:92,894,431...92,988,137
Ensembl chr13:92,894,431...92,988,137
JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:93,684,324...93,715,378
Ensembl chr13:93,684,437...93,716,227
JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:93,716,481...93,746,994
Ensembl chr13:93,716,481...93,746,994
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 chr13:94,025,696...94,355,219
Ensembl chr13:94,025,369...94,355,219
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 chr13:93,095,659...93,534,452
Ensembl chr13:93,095,200...93,307,199
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:93,751,754...93,874,149
Ensembl chr13:93,751,759...93,874,105
JBrowse link
G Zp4 zona pellucida glycoprotein 4 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:65,497,359...65,503,912
Ensembl chr17:65,497,359...65,503,912
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      Hereditary Neoplastic Syndromes 912
        Hereditary Leiomyomatosis and Renal Cell Cancer 13
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        peripheral nervous system disease 2516
          neuropathy 2316
            neuromuscular disease 1829
              muscular disease 1229
                muscle tissue disease 820
                  Muscle Tissue Neoplasms 139
                    leiomyoma 65
                      leiomyomatosis 14
                        Hereditary Leiomyomatosis and Renal Cell Cancer 13
paths to the root