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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 FOXC2 on chromosome 16q24.1. (DO)
Synonyms:exact_synonym: 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: OMIM:153400
 xref: GARD:333;   NCI:C128191;   ORDO:33001
For additional species annotation, visit the Alliance of Genome Resources.


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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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:153400
OMIM
ClinVar
CTD
PMID:10417285 PMID:11078474 PMID:11371511 PMID:11499682 PMID:12114478 PMID:12485195 PMID:16081467 PMID:18197197 PMID:19760751 PMID:20301630 PMID:22768468 PMID:25741868 PMID:27276711 PMID:28492532 NCBI chr19:53,044,379...53,047,081
Ensembl chr19:53,044,379...53,047,081
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 null ClinVar PMID:15523639 NCBI chr19:53,044,379...53,047,081
Ensembl chr19:53,044,379...53,047,081
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      lymphedema-distichiasis syndrome 1
        Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal dominant disease 3709
                lymphedema-distichiasis syndrome 1
                  Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 1
paths to the root