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
-
- MESH:C557821
- MIM:612913
- ORDO:141000
- SNOMEDCT_US_2023_03_01:718681002
- UMLS_CUI:C2752048
- Ontology
- Human Disease ( DOID:0060381 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models