ONTOLOGY REPORT - ANNOTATIONS


Term:SIFRIM-HITZ-WEISS SYNDROME
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Accession:DOID:9008154 term browser browse the term
Definition:An autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. (OMIM)
Synonyms:exact_synonym: SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME;   SIHIWES
 primary_id: OMIM:617159;   RDO:9001556
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SIFRIM-HITZ-WEISS SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd4 chromodomain helicase DNA binding protein 4 JBrowse link 4 157,612,531 157,645,660 RGD:8554872
RGD:7240710

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Path 1
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  disease 14875
    syndrome 4220
      SIFRIM-HITZ-WEISS SYNDROME 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    SIFRIM-HITZ-WEISS SYNDROME 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.