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RGD uses the Human Disease Ontology (DO, 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:Birk-Landau-Perez Syndrome
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Accession:DOID:9007774 term browser browse the term
Synonyms:exact_synonym: BILAPES
 primary_id: OMIM:617595
For additional species annotation, visit the Alliance of Genome Resources.

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Birk-Landau-Perez Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a9 solute carrier family 30 member 9 ISO ClinVar Annotator: match by term: Birk-Landau-Perez syndrome ClinVar
PMID:25741868 PMID:28334855 NCBI chr14:40,816,284...40,870,992
Ensembl chr14:40,816,290...40,870,929
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Birk-Landau-Perez Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Multiple Abnormalities 2447
            Birk-Landau-Perez Syndrome 1
paths to the root