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Disease Ontology Browser
orofaciodigital syndrome XI (DOID:0060381)
Alliance: disease page
Alt IDs: OMIM:612913, MESH:C557821, ORDO:141000, UMLS_CUI:C2752048
Definition: An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory