syndromic disease heart disorder atrioventricular defect-blepharophimosis-radial and anal defect syndrome https://github.com/monarch-initiative/mondo/issues/6744 https://github.com/monarch-initiative/mondo/issues/6745 https://www.malacards.org/card/atrioventricular_defect_blepharophimosis_radial_and_anal_defect_syndrome https://www.malacards.org/card/atrioventricular_septal_defect_with_blepharophimosis_and_anal_and_radial_defects Houlston-Ironton-Temple syndrome MONDO:0010825 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. OMIM:600123 MEDGEN:374010 Orphanet:1352 GARD:0002742 MESH:C563994 UMLS:C1838606 multiple congenital anomalies/dysmorphic syndrome without intellectual disability disorder of visual system