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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: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
OMIM
PMID:28334855 NCBI chr14:42,464,814...42,519,760
Ensembl chr14:42,465,807...42,520,020
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Birk-Landau-Perez Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          Multiple Abnormalities 1757
            Birk-Landau-Perez Syndrome 1
paths to the root