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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 congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator.
Synonyms:exact_synonym: Angio Osteohypertrophy Syndrome;   Angio-Osteohypertrophy Syndromes;   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
 primary_id: MESH:D007715
 alt_id: OMIM:149000;   RDO:0002606
 xref: NCI:C84801
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Klippel-Trenaunay syndrome 0
        Weber Klippel Trenaunay 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        vascular disease 3386
          Angiomatosis 13
            Klippel-Trenaunay syndrome 0
              Weber Klippel Trenaunay 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.