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Term:Lujan Fryns Syndrome
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Accession:DOID:9001908 term browser browse the term
Definition:Lujan-Fryns syndrome is caused by mutation in the MED12 gene on chromosome Xq13. (OMIM)
Synonyms:exact_synonym: Lujan Syndrome;   Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies;   X-LINKED MENTAL RETARDATION WITH MARFANOID HABITUS SYNDROME;   X-Linked Intellectual Deficit with Marfanoid Habitus;   X-Linked Mental Retardation with Marfanoid Habitus;   XLMR with Marfanoid Features
 primary_id: MESH:C537724;   RDO:0003614
 alt_id: OMIM:309520
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Lujan Fryns Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      Lujan Fryns Syndrome 1
Path 2
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  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        central nervous system disease 8136
          brain disease 7608
            disease of mental health 5547
              developmental disorder of mental health 2725
                specific developmental disorder 1893
                  intellectual disability 1718
                    syndromic intellectual disability 677
                      Mental Retardation, X-Linked 658
                        Lujan Fryns Syndrome 1
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