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
Accession: DOID:2926
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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: EFO:0007334 ; NCI:C84801 ; ORDO:90308
For additional species annotation, visit the
Alliance of Genome Resources .
G
Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome
ClinVar
NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
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
G
Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Angio-osteohypertrophy syndrome
ClinVar
PMID:18829572 PMID:22228622 PMID:22729224 PMID:22949682 PMID:23246288 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27631024 PMID:28151489 PMID:28492532 PMID:28502725 PMID:30231930 PMID:32595695 PMID:33077954 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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
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