Metadata | |
---|---|
ID | DOID:0060289 |
Name | Ohdo 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 |
Xrefs |
SNOMEDCT_US_2023_03_01:412787009 |
Subsets |
DO_rare_slim |
Synonyms |
Ohdo blepharophimosis syndrome [EXACT] |
Parent Relationships |
is_a syndrome |