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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 ClinVar Annotator: match by term: Baralle-Macken syndrome OMIM
ClinVar
PMID:33632302 NCBI chr 1:168,404,334...168,438,589
Ensembl chr 1:168,404,335...168,438,416
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Baralle-Macken Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                complex cortical dysplasia with other brain malformations 1421
                  Malformations of Cortical Development, Group I 1267
                    microcephaly 1103
                      Baralle-Macken Syndrome 1
paths to the root