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visceral heterotaxy 6 - Ontology Report - Rat Genome Database

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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:visceral heterotaxy 6
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Accession:DOID:0051020 term browser browse the term
Definition:A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21. (DO)
Synonyms:exact_synonym: HTX6;   Visceral Heterotaxy 6, Autosomal
 broad_synonym: CFAP53-related condition
 alt_id: DOID:9003212
 xref: MIM:614779;   MONDO:0013887

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visceral heterotaxy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap53 cilia and flagella associated protein 53 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22577226 PMID:25504577 More... NCBI chr18:67,884,651...67,955,873
Ensembl chr18:67,869,855...67,952,318 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    syndrome 11406
      visceral heterotaxy 98
        Visceroatrial Heterotaxy, Autosomal Recessive 10
          visceral heterotaxy 6 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      respiratory system disease 5247
        thoracic disease 4048
          heart disease 3474
            congenital heart disease 1407
              visceral heterotaxy 98
                Visceroatrial Heterotaxy, Autosomal Recessive 10
                  visceral heterotaxy 6 1
paths to the root