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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:Hydranencephaly with Renal Aplasia-Dysplasia
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Accession:DOID:9001099 term browser browse the term
Synonyms:primary_id: MESH:C565507;   RDO:0014123
For additional species annotation, visit the Alliance of Genome Resources.


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Hydranencephaly with Renal Aplasia-Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia ClinVar PMID:25741868, PMID:28264986, PMID:28295209 NCBI chr 1:256,745,251...256,760,794
Ensembl chr 1:256,745,288...256,760,796
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    physical disorder 982
      neural tube defect 116
        anencephaly 14
          hydranencephaly 3
            Hydranencephaly with Renal Aplasia-Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4793
          Nervous System Malformations 1082
            neural tube defect 116
              anencephaly 14
                hydranencephaly 3
                  Hydranencephaly with Renal Aplasia-Dysplasia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.