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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

MESH:C536232

OMIM:249620

OMIM:300895

ORDO:2728

SNOMEDCT_US_2023_03_01:412787009

UMLS_CUI:C0796094

Subsets

DO_rare_slim

Synonyms

Ohdo blepharophimosis syndrome [EXACT]

Parent Relationships

is_a syndrome

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