Mondo Description Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.
Uniprot Description Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.
Disease Ontology Description An autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb.
Mondo Term and Equivalent IDs
MONDO:0007732: Holt-Oram syndrome