Oblique Facial Clefting 1
Disease ID: disease_node_14031
Connections displayed (default: 10).
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| Dbxref | MIM:600251 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050567 |
| Data Source | DOID |
| Synonyms | Tessier number 4 facial cleft |
| Doid Label | oblique facial clefting 1 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_14031 |
| Doid Id | DOID_0111706 |
| Label | Oblique Facial Clefting 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Orofacial Cleft(ID:disease_node_14023) (Disease)