.
von Hippel-Lindau disease - Ontology Report - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:von Hippel-Lindau disease
go back to main search page
Accession:DOID:14175 term browser browse the term
Definition:An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions.
Synonyms:exact_synonym: Angiomatosis Retinae;   Familial Cerebello Retinal Angiomatosis;   Familial Cerebello-Retinal Angiomatoses;   Familial Cerebelloretinal Angiomatoses;   Familial Cerebelloretinal Angiomatosis;   Hippel-Lindau disease;   Hippel-Lindau syndrome;   Lindau Disease;   Lindau's Disease;   Lindaus Disease;   VHL;   VHL Syndrome;   VHL Syndromes;   von Hippel Lindau Syndrome;   von Hippel-Lindau
 related_synonym: von Hippel-Lindau syndrome, modifier of;   von Hippel-Lindau syndrome, modifiers of
 xref: GARD:7855;   ICD10CM:Q85.8;   ICD10CM:Q85.83;   MESH:D006623;   MIM:193300;   MONDO:0008667;   NCI:C3105
For additional species annotation, visit the Alliance of Genome Resources.

1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
X
Y

show annotations for term's descendants           Sort by:
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190 		JBrowse link
G CCND1 cyclin D1 susceptibility IAGP
EXP 		ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 IEP protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,164,919...10,243,745
Ensembl chr 3:10,164,919...10,243,745 		JBrowse link
G LOC107303339 3p25 BRK1 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,120,032...10,138,833 JBrowse link
G LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome 		ClinVar PMID:982991 PMID:1056348 PMID:2844285 PMID:4843792 PMID:7553625 More... NCBI chr 3:10,142,339...10,160,352 JBrowse link
G MMP3 matrix metallopeptidase 3 onset IAGP RGD PMID:19551141 RGD:7241233 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SLC18A1 solute carrier family 18 member A1 IEP mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:20,144,855...20,183,136
Ensembl chr 8:20,144,855...20,183,206 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP
ISS
EXP 		ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
OMIM:193300
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 147117
    syndrome 38797
      Neurocutaneous Syndromes 471
        von Hippel-Lindau disease 10
Path 2
Term Annotations click to browse term
  disease 147117
    disease of anatomical entity 134156
      nervous system disease 71651
        peripheral nervous system disease 7683
          neuropathy 7130
            neuromuscular disease 5440
              muscular disease 3804
                muscle tissue disease 2579
                  Muscle Tissue Neoplasms 742
                    musculoskeletal system benign neoplasm 683
                      connective tissue benign neoplasm 631
                        bone benign neoplasm 34
                          capillary hemangioma 31
                            hemangioblastoma 16
                              von Hippel-Lindau disease 10
paths to the root