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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:Lymphangiectasis
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Accession:DOID:9002335 term browser browse the term
Definition:A transient dilatation of the lymphatic vessels.
Synonyms:exact_synonym: Lymphangiectases
 primary_id: MESH:D008200;   RDO:0003619
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Lymphangiectasis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO DNA:point mutation:exon :p.S259A (mouse) RGD PMID:23391722 RGD:12910710 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM
ClinVar
PMID:19911200 PMID:19935664 PMID:24033266 PMID:25741868 PMID:27323140 PMID:28492532 PMID:28985353 NCBI chr18:61,758,754...62,013,194
Ensembl chr18:61,759,289...61,788,863
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
Ensembl chr 2:125,752,130...125,879,387
JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2
ClinVar Annotator: match by OMIM:616006
OMIM
ClinVar
PMID:2624276 PMID:22473091 PMID:24056717 PMID:24913602 PMID:25741868 PMID:28492532 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
Ensembl chr 2:125,752,130...125,879,387
JBrowse link
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts3 ADAM metallopeptidase with thrombospondin type 1, motif 3 ISO ClinVar Annotator: match by term: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 ClinVar
OMIM
PMID:28985353 PMID:30450763 NCBI chr14:19,866,278...20,072,896
Ensembl chr14:19,866,408...20,070,994
JBrowse link
Hennekam syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccbe1 collagen and calcium binding EGF domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19911200 PMID:19935664 NCBI chr18:61,758,754...62,013,194
Ensembl chr18:61,759,289...61,788,863
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
Ensembl chr 2:125,752,130...125,879,387
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      immune system disease 3053
        lymphatic system disease 1186
          Lymphangiectasis 4
            Intestinal Lymphangiectasis + 3
            Pulmonary Lymphangiectasia, Congenital 0
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Immune & Inflammatory Diseases 3691
        immune system disease 3053
          lymphatic system disease 1186
            Lymphangiectasis 4
              Intestinal Lymphangiectasis + 3
              Pulmonary Lymphangiectasia, Congenital 0
paths to the root