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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:female-restricted Wieacker-Wolff syndrome
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Accession:DOID:0061015 term browser browse the term
Definition:A syndromic X-linked intellectual disability that has_material_basis_in heterozygous mutation in the ZC4H2 gene on chromosome Xq11. (DO)
Synonyms:exact_synonym: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED;   WRWFFR
 alt_id: DOID:9008262
 xref: MIM:301041;   NCI:C198578


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female-restricted Wieacker-Wolff syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted OMIM
ClinVar		 PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972 NCBI chr  X:64,525,725...64,556,037
Ensembl chr  X:64,535,241...64,556,042 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Neurodevelopmental Disorders 2634
        intellectual disability 1376
          X-Linked Intellectual Developmental Disorders 193
            syndromic X-linked intellectual disability 68
              female-restricted Wieacker-Wolff syndrome 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            disease of mental health 3944
              developmental disorder of mental health 2218
                specific developmental disorder 1593
                  intellectual disability 1376
                    X-Linked Intellectual Developmental Disorders 193
                      syndromic X-linked intellectual disability 68
                        female-restricted Wieacker-Wolff syndrome 1
paths to the root