Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060381 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models