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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 14
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Accession:DOID:9005590 term browser browse the term
Definition:An autosomal dominant disorder characterized by primary lymphedema. Caused by heterozygous mutation in the ERG gene on chromosome 21q22.
Synonyms:exact_synonym: LMPHM14
 primary_id: MIM:620602

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Lymphatic Malformation 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERG ETS transcription factor ERG ISO ClinVar Annotator: match by term: Lymphatic malformation 14 OMIM
ClinVar		 PMID:36928819 NCBI chr 2:82,327,088...82,611,341
Ensembl chr 2:82,326,767...82,447,228 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15412
    Developmental Disease 13505
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12665
        genetic disease 12366
          hereditary lymphedema 16
            Lymphatic Malformation 14 1
Path 2
Term Annotations click to browse term
  disease 15412
    disease of anatomical entity 15076
      Immune & Inflammatory Diseases 5126
        immune system disease 4600
          lymphatic system disease 1642
            lymphedema 156
              hereditary lymphedema 16
                Lymphatic Malformation 14 1
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