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Metadata
ID	DOID:0060381
Name	orofaciodigital syndrome XI
Definition	An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects. https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11
Xrefs	MESH:C557821 OMIM:612913 ORDO:141000 SNOMEDCT_US_2023_03_01:718681002 UMLS_CUI:C2752048
Subsets	DO_rare_slim
Parent Relationships	is_a orofaciodigital syndrome