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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:Hennekam Lymphangiectasia-Lymphedema Syndrome 3
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Accession:DOID:9004748 term browser browse the term
Definition:HKLLS3 is a disease characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity. HKLLS3 is caused by homozygous or compound heterozygous mutation in the ADAMTS3 gene on chromosome 4q13. (OMIM)
Synonyms:exact_synonym: HKLLS3
 primary_id: MIM:618154


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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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    syndrome 29825
      Hennekam syndrome 3
        Hennekam Lymphangiectasia-Lymphedema Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      Immune & Inflammatory Diseases 18495
        immune system disease 15091
          lymphatic system disease 3164
            Lymphangiectasis 4
              Intestinal Lymphangiectasis 3
                Hennekam syndrome 3
                  Hennekam Lymphangiectasia-Lymphedema Syndrome 3 1
paths to the root