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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:Microhydranencephaly
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Accession:DOID:9002767 term browser browse the term
Synonyms:exact_synonym: Hydranencephaly and microcephaly;   MHAC
 primary_id: MESH:C537555;   RDO:0003416
 alt_id: OMIM:605013
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Microhydranencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by OMIM:605013
ClinVar Annotator: match by term: Microhydranencephaly
OMIM
ClinVar
PMID:10762554 PMID:18414213 PMID:22526350 PMID:25326635 PMID:25741868 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    physical disorder 2960
      congenital nervous system abnormality 978
        microcephaly 873
          Microhydranencephaly 1
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        genetic disease 8408
          monogenic disease 6354
            autosomal genetic disease 5505
              autosomal dominant disease 3758
                complex cortical dysplasia with other brain malformations 1164
                  Malformations of Cortical Development, Group I 1024
                    microcephaly 873
                      Microhydranencephaly 1
paths to the root