ONTOLOGY REPORT - ANNOTATIONS


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
 narrow_synonym: VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF
 related_synonym: von Hippel-Lindau Syndrome, Modifier of
 primary_id: MESH:D006623;   RDO:0005808
 alt_id: OMIM:193300
 xref: GARD:7855
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von Hippel-Lindau disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex JBrowse link 4 145,559,206 145,574,438 RGD:8554872
G Ccnd1 cyclin D1 JBrowse link 1 218,090,750 218,100,447 RGD:7240710
RGD:8554872
G Epas1 endothelial PAS domain protein 1 JBrowse link 6 10,306,508 10,385,239 RGD:11041600
G Fancd2 FA complementation group D2 JBrowse link 4 145,489,869 145,551,479 RGD:8554872
G Fancd2os FANCD2 opposite strand JBrowse link 4 145,549,248 145,556,054 RGD:8554872
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:7241233
G Slc18a1 solute carrier family 18 member A1 JBrowse link 16 22,358,646 22,395,183 RGD:5131200
G Vhl von Hippel-Lindau tumor suppressor JBrowse link 4 145,580,869 145,587,835 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
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  disease 14920
    syndrome 4714
      Neurocutaneous Syndromes 65
        von Hippel-Lindau disease 8
Path 2
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  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        sensory system disease 4265
          skin disease 2268
            Skin Neoplasms 193
              skin benign neoplasm 45
                skin hemangioma 18
                  capillary hemangioma 16
                    hemangioblastoma 10
                      von Hippel-Lindau disease 8
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.