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Ontology Browser

Term:
Lymphatic Malformation 7 (DOID:9006808)
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Parent Terms Term With Siblings Child Terms
Lymphatic Malformation 7 
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 Synonyms: HFASD ;   LMPHM7 ;   central conduction lymphatic anomaly ;   nonimmune hydrops fetalis and/or atrial septal defect
Related Synonyms: susceptibility to nonimmune hydrops fetalis and/or atrial septal defect
Replaced By: DOID:0081030

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