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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 10, Autosomal
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Accession:DOID:9008028 term browser browse the term
Definition:Characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Caused by homozygous mutation in the CFAP52 gene on chromosome 17p13.
Synonyms:exact_synonym: HTX10;   autosomal visceral heterotaxy 10 with male infertility
 primary_id: OMIM:619607


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Visceral Heterotaxy 10, Autosomal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap52 cilia and flagella associated protein 52 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 10, autosomal, with male infertility OMIM
ClinVar		 PMID:25469542 PMID:25741868 PMID:33139725 NCBI chr10:52,613,761...52,654,922
Ensembl chr10:52,613,762...52,654,934 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      visceral heterotaxy 111
        Visceral Heterotaxy 10, Autosomal 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        Female Urogenital Diseases and Pregnancy Complications 2432
          Female Urogenital Diseases 1981
            female reproductive system disease 1978
              infertility 362
                male infertility 269
                  Visceral Heterotaxy 10, Autosomal 1
paths to the root