Concept information
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Genetic disease
Hereditary disease
Autosomal hereditary disorder
Recessive hereditary disorder, NOS
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Congenital malformation syndrome (disorder)
Multiple system malformation syndrome
Multiple malformation syndrome with facial defects as major feature
BMRS - blepharophimosis, mental retardation syndrome
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Congenital malformation syndrome (disorder)
Multiple system malformation syndrome
Multiple malformation syndrome with facial defects as major feature
BMRS - blepharophimosis, mental retardation syndrome
...
mental disorder
Developmental mental disorder
Intellectual disability
BMRS - blepharophimosis, mental retardation syndrome
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Neurodevelopmental disorder
Developmental mental disorder
Intellectual disability
BMRS - blepharophimosis, mental retardation syndrome
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Eyelid finding
Disorder of eyelid
Deformity of eyelid (disorder)
BMRS - blepharophimosis, mental retardation syndrome
...
Eyelid finding
Disorder of eyelid
Deformity of eyelid (disorder)
BMRS - blepharophimosis, mental retardation syndrome
Preferred term
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Finding site
Is a
Occurrence
Pathological process
In other languages
URI
http://www.irandoc.acir/onto/irandoc/778009001
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