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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:lymphedema-distichiasis syndrome
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Accession:DOID:0111509 term browser browse the term
Definition:A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1. (DO)
Synonyms:exact_synonym: FOXC2-RELATED CONDITION;   LPHDST;   hereditary lymphedema-distichiasis syndrome;   lymphedema with distichiasis
 narrow_synonym: lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
 primary_id: MESH:C537710
 alt_id: MIM:153400
 xref: GARD:333;   NCI:C128191;   ORDO:33001

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lymphedema-distichiasis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Distichiasis-lymphedema syndrome | ClinVar Annotator: match by term: FOXC2-related condition OMIM
ClinVar		 PMID:10417285 PMID:11078474 PMID:11371511 PMID:11499682 PMID:12114478 More... NCBI chrNW_004624746:2,632,547...2,634,867
Ensembl chrNW_004624746:2,632,619...2,634,085 		JBrowse link
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus ClinVar PMID:15523639 NCBI chrNW_004624746:2,632,547...2,634,867
Ensembl chrNW_004624746:2,632,619...2,634,085 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14229
    syndrome 9724
      lymphedema-distichiasis syndrome 1
        Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 1
Path 2
Term Annotations click to browse term
  disease 14229
    Developmental Disease 12517
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11791
        genetic disease 11514
          monogenic disease 9896
            autosomal genetic disease 9504
              autosomal dominant disease 6212
                lymphedema-distichiasis syndrome 1
                  Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 1
paths to the root