Concept information
...
disease
Disorder of immune function (disorder)
Immunodeficiency disorder
Primary immune deficiency disorder
...
Congenital malformation
Congenital malformation syndrome (disorder)
Multiple system malformation syndrome
Multiple malformation syndrome with facial defects as major feature
Preferred term
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (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/778023004
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