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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: MIM:617595


show annotations for term's descendants           Sort by:
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 OMIM
ClinVar		 PMID:25741868 PMID:28334855 PMID:28638141 PMID:34433664 PMID:34716203 NCBI chr14:41,170,164...41,224,861
Ensembl chr14:41,170,166...41,224,788 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    syndrome 11394
      Birk-Landau-Perez Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19154
    Developmental Disease 14697
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13758
        Congenital Abnormalities 7923
          Multiple Abnormalities 3817
            Birk-Landau-Perez Syndrome 1
paths to the root