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Metadata
ID	DOID:0060374
Name	orofaciodigital syndrome IV
Definition	An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4
Xrefs	MESH:C537133 OMIM:258860 ORDO:2753 SNOMEDCT_US_2023_03_01:239031000 UMLS_CUI:C0406727
Subsets	DO_rare_slim
Synonyms	Baraitser-Burn syndrome [EXACT] OFD4 [EXACT]
Parent Relationships	is_a orofaciodigital syndrome is_a autosomal recessive disease