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ONTOLOGY REPORT - ANNOTATIONS


Term:lymphedema-distichiasis syndrome
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Accession:DOID:0111509 term browser browse the term
Definition:An autosomal dominant disease 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: Hereditary lymphedema-distichiasis syndrome;   LPHDST;   lymphedema with distichiasis
 narrow_synonym: LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS
 primary_id: MESH:C537710
 alt_id: DOID:9002260;   OMIM:153400
 xref: GARD:333;   ORDO:33001
For additional species annotation, visit the Alliance of Genome Resources.


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lymphedema-distichiasis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc2 forkhead box C2 JBrowse link 19 53,044,379 53,047,081 RGD:7240710
RGD:8554872
RGD:11554173
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc2 forkhead box C2 JBrowse link 19 53,044,379 53,047,081 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      lymphedema-distichiasis syndrome 1
        Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 1
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            autosomal genetic disease 3674
              autosomal dominant disease 2170
                lymphedema-distichiasis syndrome 1
                  Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.