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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    sensory system disease 6555
      skin disease 3762
        BOCKENHEIMER SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        sensory system disease 6555
          skin disease 3762
            BOCKENHEIMER SYNDROME 1
paths to the root