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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.


show annotations for term's descendants           Sort by:
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 PMID:28492532 PMID:30622327 More... NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394 		JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Hydranencephaly with renal aplasia-dysplasia ClinVar PMID:25741868 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    physical disorder 5116
      neural tube defect 128
        anencephaly 19
          hydranencephaly 4
            Hydranencephaly with Renal Aplasia-Dysplasia 2
Path 2
Term Annotations click to browse term
  disease 20983
    Developmental Disease 18229
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18059
        Congenital Abnormalities 7481
          Nervous System Malformations 2533
            neural tube defect 128
              anencephaly 19
                hydranencephaly 4
                  Hydranencephaly with Renal Aplasia-Dysplasia 2
paths to the root