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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:central conducting lymphatic anomaly
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Accession:DOID:0081030 term browser browse the term
Definition:A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22. (DO)
Synonyms:exact_synonym: HFASD;   LMPHM7;   central conduction lymphatic anomaly;   lymphatic malformation 7;   nonimmune hydrops fetalis and/or atrial septal defect
 broad_synonym: EPHB4-RELATED CONDITION;   EPHB4-RELATED DISORDERS
 related_synonym: susceptibility to nonimmune hydrops fetalis and/or atrial septal defect
 primary_id: OMIM:617300
 alt_id: DOID:9006808


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central conducting lymphatic anomaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 More... NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314 		JBrowse link
G Mdfic MyoD family inhibitor domain containing ISS
ISO		 OMIM:617300
ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY		 MouseDO
ClinVar		 PMID:25741868 PMID:35235341 NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161 		JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      congenital heart disease 1346
        heart septal defect 215
          atrial heart septal defect 121
            central conducting lymphatic anomaly 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          anemia 778
            normocytic anemia 416
              hemolytic anemia 416
                congenital hemolytic anemia 347
                  hemoglobinopathy 241
                    thalassemia 209
                      alpha thalassemia 73
                        Hydrops Fetalis 59
                          central conducting lymphatic anomaly 3
paths to the root