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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:Kaya-Barakat-Masson Syndrome
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Accession:DOID:9003570 term browser browse the term
Synonyms:exact_synonym: KABAMAS
 primary_id: OMIM:619125
For additional species annotation, visit the Alliance of Genome Resources.


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Kaya-Barakat-Masson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yif1b Yip1 interacting factor homolog B, membrane trafficking protein ISO ClinVar Annotator: match by term: KAYA-BARAKAT-MASSON SYNDROME OMIM
ClinVar
PMID:32006098 PMID:33103737 NCBI chr 1:88,182,379...88,192,568
Ensembl chr 1:88,182,155...88,192,969
Ensembl chr 1:88,182,155...88,192,969
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        Kaya-Barakat-Masson Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              Neurodevelopmental Disorders 5572
                Kaya-Barakat-Masson Syndrome 1
paths to the root