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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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.
Synonyms:exact_synonym: CHD4-RELATED DISORDER;   SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME;   SIHIWES
 primary_id: OMIM:617159


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SIFRIM-HITZ-WEISS SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome ClinVar NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: CHD4-Related Disorder | ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome OMIM
ClinVar		 PMID:25741868 PMID:27616479 PMID:28492532 PMID:31388190 NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      SIFRIM-HITZ-WEISS SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        central nervous system disease 12287
          brain disease 11531
            disease of mental health 8203
              developmental disorder of mental health 5446
                specific developmental disorder 4430
                  intellectual disability 4243
                    SIFRIM-HITZ-WEISS SYNDROME 2
paths to the root