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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:Intestinal Lymphangiectasis
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Accession:DOID:9005821 term browser browse the term
Definition:Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by DIARRHEA; HYPOPROTEINEMIA; peripheral and/or abdominal EDEMA; and PROTEIN-LOSING ENTEROPATHIES.
Synonyms:exact_synonym: intestinal lymphangiectases;   intestinal lymphangiectasia
 primary_id: MESH:D008201
 alt_id: MIM:152800



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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 IAGP ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 More... NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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 IAGP ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 2 OMIM
ClinVar
PMID:2624276 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 More... NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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 IAGP ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28985353 PMID:30450763 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221
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 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED
CTD
ClinVar
PMID:19911200 PMID:19935664 PMID:25741868 PMID:25814692 PMID:28492532 More... NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
JBrowse link
G FAT4 FAT atypical cadherin 4 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97337
    disease of anatomical entity 90962
      immune system disease 14966
        lymphatic system disease 3154
          Lymphatic Abnormalities 252
            Intestinal Lymphangiectasis 3
              Aplasia Cutis Congenita with Intestinal Lymphangiectasia 0
              Hennekam syndrome + 3
              Waldmann Disease 0
Path 2
Term Annotations click to browse term
  disease 97337
    disease of anatomical entity 90962
      Immune & Inflammatory Diseases 18480
        immune system disease 14966
          lymphatic system disease 3154
            Lymphangiectasis 4
              Intestinal Lymphangiectasis 3
                Aplasia Cutis Congenita with Intestinal Lymphangiectasia 0
                Hennekam syndrome + 3
                Waldmann Disease 0
paths to the root