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Statements

Subject Item

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n3:ECO_0007645 n3:ECO_0007638

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n3:IAO_0000115

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An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in SPECC1L on chromosome 22q11.23.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/21703590 url:https://en.wikipedia.org/wiki/Craniofacial_cleft#Tessier_classification url:https://www.ncbi.nlm.nih.gov/pubmed/820824