orofaciodigital syndrome XI

Term ID

DOID:0060381

Synonyms

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

References

• MESH:C557821
• OMIM:612913
• ORDO:141000
• SNOMEDCT_US_2023_03_01:718681002
• UMLS_CUI:C2752048

Ontology

Human Disease   ( DOID:0060381 )