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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
Status:
This term is obsolete. We suggest searching for the text of the ontology term or for a keyword rather than searching for the ontology ID. For more information, please contact us.
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
 replaced_by: DOID:0081030
For additional species annotation, visit the Alliance of Genome Resources.



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