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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:Klippel-Trenaunay syndrome
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Accession:DOID:2926 term browser browse the term
Definition:A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. (DO)
Synonyms:exact_synonym: Angio Osteohypertrophy Syndrome;   Angioosteohypertrophy Syndrome;   Angioosteohypertrophy Syndromes;   Congenital Dysplastic Angiopathies;   Congenital Dysplastic Angiopathy;   Haemangiectatic hypertrophy;   KTS;   KTW Syndrome;   KTW syndromes;   Klippel Trenaunay Disease;   Klippel Trénaunay Weber Syndrome;   Klippel-Trenaunay Syndromes;   Klippel-Trenaunay-Weber syndrome;   Weber Klippel Trenaunay;   angio-osteohypertrophy syndromes
 primary_id: MESH:D007715
 alt_id: MESH:C536889;   OMIM:149000
 xref: NCI:C84801
For additional species annotation, visit the Alliance of Genome Resources.


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Klippel-Trenaunay syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome ClinVar NCBI chr 2:15,834,833...15,855,643
Ensembl chr 2:15,834,833...15,855,819
JBrowse link
G Gnaq G protein subunit alpha q ISO ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome ClinVar PMID:23656586 PMID:25188413 PMID:25741868 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome ClinVar PMID:25741868 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome ClinVar NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Klippel-Trenaunay syndrome 4
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      cardiovascular system disease 4514
        vascular disease 3434
          Angiomatosis 14
            Klippel-Trenaunay syndrome 4
paths to the root