Concept information
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Genetic disease
Hereditary disease
Autosomal hereditary disorder
Dominant 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
...
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
...
Neurodevelopmental disorder
Developmental mental disorder
Intellectual disability
BMRS - blepharophimosis, mental retardation syndrome
...
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-mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Associated morphology
Finding site
Is a
- 363070008
- 363104002
- 363343008
- 367506006
- BMRS - blepharophimosis, mental retardation syndrome
- Congenital hypothyroidism
- Dominant hereditary disorder, NOS
Occurrence
Pathological process
In other languages
URI
http://www.irandoc.acir/onto/irandoc/699298009
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