OBO ID: DOID:0060289
Term Name: Ohdo syndrome Search Ontology:
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:
Ontology: Human Disease   ( DOID:0060289 )
OTHER Ohdo syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MED12 Ohdo syndrome, X-linked 300895
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None