FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term oblique facial clefting 1 ID (Ontology) DOID:0111706 (Human Disease)
Definition 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 the SPECC1L gene on chromosome 22q11.23.
Also Known As "Tessier number 4 facial cleft"
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 Genes
 oblique facial clefting 1       1
 for disease ribbon | oblique facial clefting 1       1
 model of | oblique facial clefting 1       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
physical disorder               |
 |__orofacial cleft_____________|
syndrome                        |
 |__orofacial cleft_____________|
                                oblique facial clefting 1  1 rec.
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Is a orofacial cleft
autosomal dominant disease
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Synonyms
  • "Tessier number 4 facial cleft" EXACT
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MIM:600251