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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:Lymphatic Malformation 11
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Accession:DOID:9004103 term browser browse the term
Definition:Characterized by lower extremity edema, with onset in the second or third decade of life. Caused by heterozygous mutation in the TIE1 gene on chromosome 1p34. (OMIM)
Synonyms:exact_synonym: LMPHM11
 primary_id: OMIM:619401


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Lymphatic Malformation 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tie1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 ISO ClinVar Annotator: match by term: Lymphatic malformation 11 OMIM
ClinVar		 PMID:32947856 NCBI chr 5:132,000,013...132,019,658
Ensembl chr 5:132,000,015...132,019,592 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          hereditary lymphedema 17
            Lymphatic Malformation 11 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Immune & Inflammatory Diseases 5564
        immune system disease 4771
          lymphatic system disease 1667
            lymphedema 152
              hereditary lymphedema 17
                Lymphatic Malformation 11 1
paths to the root