Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:9005510 term browser browse the term
Synonyms:exact_synonym: Cutaneous leiomyomata with uterine leiomyomata;   HLRCC;   LRCC;   Leiomyoma, hereditary multiple, of skin;   Leiomyoma, multiple cutaneous;   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
 primary_id: MESH:C535516
 alt_id: OMIM:150800
 xref: ORDO:523
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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: Leiomyoma, multiple cutaneous
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
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: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:27037871, PMID:28289076, PMID:28492532, PMID:29423582, PMID:29909963, PMID:30013182, PMID:30967997, PMID:31444830, 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 16045
    syndrome 6991
      Hereditary Neoplastic Syndromes 815
        Hereditary Leiomyomatosis and Renal Cell Cancer 13
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        peripheral nervous system disease 2476
          neuropathy 2297
            neuromuscular disease 1778
              muscular disease 1201
                muscle tissue disease 813
                  Muscle Tissue Neoplasms 134
                    leiomyoma 66
                      leiomyomatosis 14
                        Hereditary Leiomyomatosis and Renal Cell Cancer 13
paths to the root

NHLBI Logo

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