Ohdo syndrome

Term ID

DOID:0060289

Synonyms

• Ohdo blepharophimosis syndrome

Definition

A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2489&Disease_Disease_Search_diseaseGroup=Ohdo-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&title=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&search=Disease_Search_Simple

References

• MESH:C536232
• OMIM:249620
• OMIM:300895
• ORDO:2728
• SNOMEDCT_US_2023_03_01:412787009
• UMLS_CUI:C0796094

Ontology

Human Disease   ( DOID:0060289 )