Concept information
...
Genetic disease
Hereditary disease
Autosomal hereditary disorder
Dominant hereditary disorder, NOS
...
Congenital malformation
Congenital malformation syndrome (disorder)
Multiple system malformation syndrome
Multiple malformation syndrome with facial defects as major feature
Preferred term
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Associated morphology
Finding site
Is a
Occurrence
Pathological process
In other languages
URI
http://www.irandoc.acir/onto/irandoc/782736007
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