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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:Congenital Heart Defects, X-Linked
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Accession:DOID:9006385 term browser browse the term
Synonyms:primary_id: MESH:C567444
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by OMIM:306955
ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked
ClinVar Annotator: match by term: Heterotaxy, visceral, X-linked
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
OMIM
PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 PMID:17295247 PMID:17764085 PMID:18716025 PMID:23427188 PMID:23872418 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      congenital heart disease 1062
        Congenital Heart Defects, X-Linked 1
          Congenital Heart Defects, Multiple Types, 1, X-Linked 1
Path 2
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5728
            X-linked monogenic disease 1032
              Congenital Heart Defects, X-Linked 1
                Congenital Heart Defects, Multiple Types, 1, X-Linked 1
paths to the root