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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 1
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Accession:DOID:9003821 term browser browse the term
Synonyms:exact_synonym: HKLLS1
 primary_id: MIM:235510


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: Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 More... NCBI chr 1:16,597,389...16,819,888
Ensembl chr 1:16,597,334...16,819,894 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1 ClinVar PMID:25741868 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15728
    syndrome 10503
      Hennekam syndrome 3
        Hennekam Lymphangiectasia-Lymphedema Syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 15728
    disease of anatomical entity 15372
      Immune & Inflammatory Diseases 5204
        immune system disease 4611
          lymphatic system disease 1692
            Lymphangiectasis 4
              Intestinal Lymphangiectasis 3
                Hennekam syndrome 3
                  Hennekam Lymphangiectasia-Lymphedema Syndrome 1 2
paths to the root