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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
 alt_id: 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      SIFRIM-HITZ-WEISS SYNDROME 1
Path 2
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  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    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.