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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:BOCKENHEIMER SYNDROME
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Accession:DOID:9000388 term browser browse the term
Definition:This is a very rare condition characterized by extensive, circumscribed venous malformations (phlebectasias) involving all veins, including the smallest ones, on the arms and legs. It is present at birth (congenital) and is progressive during life. The venous dilatation can be seen beneath the skin on the arms and legs. It may occur on one or both sides.
Synonyms:exact_synonym: genuine diffuse phlebectasia
 primary_id: ORPHA:217008


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BOCKENHEIMER SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tek TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Bockenheimer syndrome ClinVar PMID:25741868 NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      skin disease 3968
        BOCKENHEIMER SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              BOCKENHEIMER SYNDROME 1
paths to the root