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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:Baralle-Macken Syndrome
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Accession:DOID:9005123 term browser browse the term
Synonyms:exact_synonym: BARMACS;   neurodevelopmental disorder with cataracts and variable microcephaly
 primary_id: OMIM:619255
For additional species annotation, visit the Alliance of Genome Resources.


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Baralle-Macken Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb1 COPI coat complex subunit beta 1 ISO OMIM NCBI chr 1:183,695,480...183,729,569
Ensembl chr 1:183,695,481...183,729,569
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      Baralle-Macken Syndrome 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
                      Baralle-Macken Syndrome 1
paths to the root