Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Lymphatic Malformation 7 (DOID:9006808)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0)
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)

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

paths to the root