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
Accession: DOID:9005510
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
broad_synonym: FH-RELATED CONDITION
primary_id: MESH:C535516
alt_id: MIM:150800
xref: EFO:0000766 ; MONDO:0007888 ; ORDO:523
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Chml
CHM like Rab escort protein
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:90,141,880...90,152,097
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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
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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
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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
OMIM CTD ClinVar RGD
PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 PMID:15663510 PMID:15761418 PMID:15937070 PMID:15987702 PMID:16029320 PMID:16151915 PMID:16199547 PMID:16237213 PMID:16309500 PMID:16403393 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:16757530 PMID:16881969 PMID:17270241 PMID:17392716 PMID:17576681 PMID:17908262 PMID:17960613 PMID:18176756 PMID:18313410 PMID:18366737 PMID:18414213 PMID:18514489 PMID:19183174 PMID:19939761 PMID:19967458 PMID:20109171 PMID:20231875 PMID:20301679 PMID:20549362 PMID:20618355 PMID:21051878 PMID:21304509 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21447597 PMID:21520333 PMID:21560188 PMID:21630274 PMID:21733559 PMID:21929734 PMID:22069215 PMID:22086304 PMID:22127509 PMID:22243733 PMID:22473397 PMID:22528940 PMID:22561013 PMID:22565324 PMID:22595425 PMID:22677546 PMID:22703879 PMID:22764886 PMID:22982371 PMID:23203078 PMID:23211287 PMID:23612258 PMID:23707781 PMID:24182348 PMID:24334767 PMID:24346898 PMID:24419633 PMID:24441663 PMID:24625422 PMID:24684806 PMID:24728327 PMID:25004247 PMID:25292446 PMID:25477250 PMID:25525159 PMID:25741868 PMID:25750977 PMID:25790038 PMID:25852058 PMID:25923021 PMID:25985877 PMID:26023681 PMID:26113603 PMID:26173633 PMID:26237645 PMID:26296701 PMID:26323704 PMID:26457356 PMID:26467025 PMID:26556299 PMID:26900816 PMID:26945337 PMID:27037871 PMID:27097334 PMID:27454940 PMID:27541980 PMID:28266706 PMID:28289076 PMID:28300276 PMID:28371217 PMID:28400895 PMID:28492532 PMID:28518168 PMID:28592321 PMID:28748451 PMID:28825054 PMID:28873162 PMID:29052812 PMID:29174943 PMID:29423582 PMID:29456767 PMID:29530542 PMID:29625052 PMID:29641532 PMID:29797630 PMID:29893455 PMID:29909963 PMID:29978187 PMID:30013182 PMID:30050099 PMID:30171332 PMID:30548481 PMID:30741757 PMID:30761759 PMID:30877234 PMID:30967997 PMID:31162287 PMID:31299266 PMID:31444830 PMID:31524643 PMID:31636096 PMID:31746132 PMID:31794323 PMID:31831373 PMID:31844177 PMID:32008151 PMID:32012241 PMID:32154112 PMID:32461654 PMID:32612247 PMID:32782288 PMID:32808982 PMID:32999401 PMID:33052056 PMID:33063682 PMID:33166576 PMID:33167498 PMID:33397043 PMID:33402335 PMID:33439686 PMID:33442023 PMID:33606809 PMID:33789101 PMID:33858029 PMID:33927380 PMID:34196900 PMID:34308104 PMID:34337822 PMID:34604083 PMID:34654685 PMID:34994643 PMID:35163394 PMID:35216667 PMID:35251648 PMID:35441217 PMID:35626031 PMID:35806449 PMID:35874919 PMID:35993574 PMID:36315513 PMID:36451132 PMID:36773955 PMID:36777509 PMID:37053010 PMID:38002934 PMID:38279137 PMID:15937070 More...
RGD:1598939
NCBI chr13:90,056,565...90,082,450
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Fmn2
formin 2
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:86,454,256...86,771,437
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Grem2
gremlin 2, DAN family BMP antagonist
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:86,778,543...86,871,509
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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
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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
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Pld5
phospholipase D family, member 5
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr13:87,895,694...88,232,868
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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
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Ryr2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr17:58,389,925...58,975,641
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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
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Zp4
zona pellucida glycoprotein 4
ISO
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar
PMID:29909963
NCBI chr17:59,005,649...59,012,202
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