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atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Disease Summary
Associated Targets ()
Mondo Description Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
Mondo Term and Equivalent IDs
MONDO:0010825: atrioventricular defect-blepharophimosis-radial and anal defect syndrome
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C563994
OMIM:600123
Orphanet:1352
UMLS:C1838606
MONDO:0010825
High level summary of knowledge for a disease, including descriptions and datasource references.