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Ontology Browser

Term:
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect (DOID:9006808)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
atrial heart septal defect 1  
atrial heart septal defect 2  
atrial heart septal defect 3  
atrial heart septal defect 4  
atrial heart septal defect 5  
atrial heart septal defect 6  
atrial heart septal defect 7  
atrial heart septal defect 8  
atrial heart septal defect 9  
Atrial Septal Defect Ostium Primum 
Atrial Septal Defect Sinus Venosus 
Atrial Septal Defect with Atrioventricular Conduction Defects +   
Atrial Septal Defect, Secundum Type 
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 
atrioventricular septal defect +   
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Ciuffo Syndrome 
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema  
Dursun Syndrome  
Greenberg Dysplasia  
Holt-Oram syndrome  
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect  
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)
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA  
Irons Bhan Syndrome 
Lutembacher's syndrome 
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Nuchal Bleb, Familial 
Oculootofacial Dysplasia +   
patent foramen ovale  
Radial Ray Deficiency, X-Linked 
rapadilino syndrome  
Ritscher-Schinzel syndrome +   
Tel Hashomer Camptodactyly Syndrome 

Synonyms
Exact Synonyms: CENTRAL CONDUCTION LYMPHATIC ANOMALY ;   HFASD ;   LMPHM7 ;   LYMPHATIC MALFORMATION 7
Related Synonyms: susceptibility to nonimmune hydrops fetalis and/or atrial septal defect
Primary IDs: OMIM:617300 ;   RDO:9001595

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.