| Metadata | |
|---|---|
| ID | DOID:0060381 |
| PURL | http://purl.obolibrary.org/obo/DOID_0060381 Copy |
| Name | orofaciodigital syndrome XI |
| 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. https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11 |
| Xrefs |
SNOMEDCT_US_2025_09_01:718681002 |
| Subsets |
DO_rare_slim |
| Parent Relationships |