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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. (OMIM)
Synonyms:exact_synonym: SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME;   SIHIWES
 primary_id: OMIM:617159
For additional species annotation, visit the Alliance of Genome Resources.



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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: Sifrim-Hitz-Weiss syndrome OMIM
ClinVar
PMID:25741868 PMID:27616479 PMID:28492532 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 18109
    syndrome 9634
      SIFRIM-HITZ-WEISS SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            disease of mental health 7489
              developmental disorder of mental health 4860
                specific developmental disorder 4124
                  intellectual disability 3939
                    SIFRIM-HITZ-WEISS SYNDROME 2
paths to the root