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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 2
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Accession:DOID:9001947 term browser browse the term
Synonyms:exact_synonym: HKLLS2
 broad_synonym: FAT4-RELATED CONDITION
 primary_id: MIM:616006
 alt_id: RDO:9000431


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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 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    syndrome 11181
      Hennekam syndrome 3
        Hennekam Lymphangiectasia-Lymphedema Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      Immune & Inflammatory Diseases 5742
        immune system disease 4931
          lymphatic system disease 1749
            Lymphangiectasis 4
              Intestinal Lymphangiectasis 3
                Hennekam syndrome 3
                  Hennekam Lymphangiectasia-Lymphedema Syndrome 2 1
paths to the root