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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:von Hippel-Lindau disease
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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;   Lindau's Diseases;   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
 primary_id: MESH:D006623
 alt_id: OMIM:193300
 xref: GARD:7855;   ICD10CM:Q85.8;   NCI:C3105
For additional species annotation, visit the Alliance of Genome Resources.



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von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF OMIM
ClinVar
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr16:20,653,268...20,687,051
Ensembl chr16:20,653,508...20,687,051
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:193300
OMIM
ClinVar
CTD
PMID:982991 PMID:1056348 PMID:7553625 PMID:7563486 PMID:7660122 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    syndrome 8170
      Neurocutaneous Syndromes 254
        von Hippel-Lindau disease 5
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        sensory system disease 5678
          skin disease 2992
            Skin Neoplasms 251
              skin benign neoplasm 73
                skin hemangioma 16
                  capillary hemangioma 14
                    hemangioblastoma 7
                      von Hippel-Lindau disease 5
paths to the root