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ONTOLOGY REPORT - ANNOTATIONS


Term:Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect
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Accession:DOID:9006808 term browser browse the term
Definition:An autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period. LMPHM7 is caused by heterozygous mutation in the EPHB4 gene on chromosome 7q22. (OMIM)
Synonyms:exact_synonym: CENTRAL CONDUCTION LYMPHATIC ANOMALY;   HFASD;   LMPHM7;   LYMPHATIC MALFORMATION 7
 related_synonym: susceptibility to nonimmune hydrops fetalis and/or atrial septal defect
 primary_id: OMIM:617300;   RDO:9001595
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Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ephb4 EPH receptor B4 JBrowse link 12 22,393,338 22,418,332 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      immune system disease 2518
        fetal erythroblastosis 26
          Hydrops Fetalis 21
            Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Hemic and Lymphatic Diseases 1723
        hematopoietic system disease 1451
          anemia 376
            normocytic anemia 175
              hemolytic anemia 175
                congenital hemolytic anemia 125
                  hemoglobinopathy 94
                    thalassemia 63
                      alpha thalassemia 30
                        Hydrops Fetalis 21
                          Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.