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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:0070529 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31. (DO)
Synonyms:exact_synonym: CHD4 neurodevelopmental disorder;   CHD4-related neurodevelopmental disorder;   CHD4-related neurodevelopmental syndrome;   SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME;   SIHIWES
 broad_synonym: CHD4-related disorder
 alt_id: DOID:9008154
 xref: MIM:617159;   MONDO:0014946;   NCI:C201595;   ORDO:653712


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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:9536098 PMID:17576681 PMID:21743468 PMID:22575888 PMID:25741868 More... NCBI chr 4:159,584,623...159,617,867
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 19143
    syndrome 11406
      Sifrim-Hitz-Weiss syndrome 2
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        central nervous system disease 12645
          brain disease 11865
            disease of mental health 8477
              developmental disorder of mental health 5660
                specific developmental disorder 4628
                  intellectual disability 4396
                    autosomal dominant intellectual developmental disorder 466
                      Sifrim-Hitz-Weiss syndrome 2
paths to the root