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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:Meacham Winn Culler Syndrome
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Accession:DOID:9007195 term browser browse the term
Synonyms:exact_synonym: Meacham syndrome
 primary_id: MESH:C538162
 alt_id: MIM:608978


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Meacham Winn Culler Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meacham Winn Culler syndrome | ClinVar Annotator: match by term: Meacham syndrome		 OMIM
CTD
ClinVar		 PMID:1302008 PMID:1317572 PMID:1327525 PMID:1338906 PMID:1655284 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    syndrome 11179
      Meacham Winn Culler Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19055
    Developmental Disease 14526
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13539
        Congenital Abnormalities 7759
          Urogenital Abnormalities 452
            disorder of sexual development 234
              46, XY Disorders of Sex Development 82
                46,XY sex reversal 18
                  Meacham Winn Culler Syndrome 1
paths to the root