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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



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 21128
    physical disorder 4950
      neural tube defect 135
        anencephaly 21
          hydranencephaly 5
            Hydranencephaly with Renal Aplasia-Dysplasia 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        Congenital Abnormalities 7567
          Nervous System Malformations 2371
            neural tube defect 135
              anencephaly 21
                hydranencephaly 5
                  Hydranencephaly with Renal Aplasia-Dysplasia 2
paths to the root