| Metadata | |
|---|---|
| ID | DOID:0111706 |
| Name | oblique facial clefting 1 |
| 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. https://en.wikipedia.org/wiki/Craniofacial_cleft#Tessier_classification, https://www.ncbi.nlm.nih.gov/pubmed/21703590, https://www.ncbi.nlm.nih.gov/pubmed/820824 |
| Xrefs | |
| Synonyms |
Tessier number 4 facial cleft [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a orofacial cleft |