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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:Lymphatic Malformation 7
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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: HFASD;   LMPHM7;   central conduction lymphatic anomaly;   nonimmune hydrops fetalis and/or atrial septal defect
 related_synonym: susceptibility to nonimmune hydrops fetalis and/or atrial septal defect
 primary_id: OMIM:617300
For additional species annotation, visit the Alliance of Genome Resources.



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Lymphatic Malformation 7 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: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
ClinVar
OMIM
PMID:25741868 PMID:27400125 PMID:29905864 NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to ClinVar PMID:25741868 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 17286
    Pathological Conditions, Signs and Symptoms 10291
      Signs and Symptoms 6532
        Edema 112
          Hydrops Fetalis 47
            Lymphatic Malformation 7 2
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      Hemic and Lymphatic Diseases 2338
        hematopoietic system disease 1914
          anemia 432
            normocytic anemia 202
              hemolytic anemia 202
                congenital hemolytic anemia 156
                  hemoglobinopathy 121
                    thalassemia 90
                      alpha thalassemia 57
                        Hydrops Fetalis 47
                          Lymphatic Malformation 7 2
paths to the root