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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 lymphangiectasia
 xref: MESH:D008201;   MIM:152800;   MONDO:0018178;   ORDO:36204


show annotations for term's descendants           Sort by:
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: CCBE1-related condition | ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 More... NCBI chr18:61,849,821...62,093,876
Ensembl chr18:61,853,149...62,094,075 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716 		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 OMIM
ClinVar		 PMID:2624276 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 More... NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716 		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: ADAMTS3-related condition | ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28985353 PMID:30450763 NCBI chr14:18,515,249...18,721,887
Ensembl chr14:18,515,249...18,721,887 		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
ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome | ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED 		CTD
ClinVar		 PMID:19911200 PMID:19935664 PMID:25741868 PMID:25814692 PMID:28492532 More... NCBI chr18:61,849,821...62,093,876
Ensembl chr18:61,853,149...62,094,075 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      immune system disease 5094
        lymphatic system disease 1751
          Lymphatic Abnormalities 98
            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 19167
    disease of anatomical entity 18473
      Immune & Inflammatory Diseases 5781
        immune system disease 5094
          lymphatic system disease 1751
            Lymphangiectasis 4
              Intestinal Lymphangiectasis 3
                Aplasia Cutis Congenita with Intestinal Lymphangiectasia 0
                Hennekam syndrome + 3
                Waldmann Disease 0
paths to the root