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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: OMIM: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 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:615994
ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 | ClinVar Annotator: match by term: LZTFL1-related condition		 OMIM
CTD
MouseDO
ClinVar		 PMID:22510444 PMID:23692385 PMID:25741868 PMID:25741916 PMID:28492532 NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192 		JBrowse link
G Stx3 syntaxin 3 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO protein:increased expression:photoreceptor outer segment layer RGD PMID:26216965 RGD:11532386 NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Bardet-Biedl syndrome 233
        Bardet-Biedl syndrome 17 4
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                Bardet-Biedl syndrome 233
                  Bardet-Biedl syndrome 17 4
paths to the root