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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:Bardet-Biedl syndrome 17
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Accession:DOID:0110139 term browser browse the term
Definition:A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21. (DO)
Synonyms:exact_synonym: BBS17;   LZTFL1-RELATED CONDITION
 primary_id: MIM:615994


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Bardet-Biedl syndrome 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 ClinVar NCBI chr 8:132,273,581...132,287,651
Ensembl chr 8:132,273,544...132,287,883 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO
ISS 		OMIM:615994
ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 | ClinVar Annotator: match by term: LZTFL1-related condition 		OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:17163542 PMID:17576681 PMID:22510444 PMID:23692385 More... NCBI chr 8:132,222,339...132,237,757
Ensembl chr 8:132,222,342...132,237,684 		JBrowse link
G Stx3 syntaxin 3 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 1:217,940,697...218,114,865
Ensembl chr 1:217,909,169...218,110,466 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:36,474,428...36,536,058 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Bardet-Biedl syndrome 237
        Bardet-Biedl syndrome 17 4
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                Bardet-Biedl syndrome 237
                  Bardet-Biedl syndrome 17 4
paths to the root