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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

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show annotations for term's descendants           Sort by:
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:25741868 PMID:33632302 NCBI chr 1:50,380,971...50,426,019
Ensembl chr 1:50,380,892...50,425,701 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15273
    syndrome 9981
      Baralle-Macken Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15273
    Developmental Disease 13265
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12391
        genetic disease 12047
          monogenic disease 10078
            autosomal genetic disease 9302
              autosomal dominant disease 6141
                complex cortical dysplasia with other brain malformations 1582
                  Malformations of Cortical Development, Group I 1363
                    microcephaly 1120
                      Baralle-Macken Syndrome 1
paths to the root