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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:Bjornstad syndrome
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Accession:DOID:0050677 term browser browse the term
Definition:A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. (DO)
Synonyms:exact_synonym: BJS;   PTD;   deafness and pili torti, Bjornstad type;   deafness-pili torti-hypogonadism syndrome;   pili torti and nerve deafness;   pili torti-deafness syndrome;   pili torti-sensorineural hearing loss
 narrow_synonym: BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
 broad_synonym: BCS1L-related disorder
 primary_id: MESH:C537633
 alt_id: OMIM:262000
 xref: GARD:22;   ORDO:123


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Bjornstad syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      Bjornstad syndrome 1
Path 2
Term Annotations click to browse term
  disease 21112
    Pathological Conditions, Signs and Symptoms 13291
      Signs and Symptoms 10731
        Neurologic Manifestations 9971
          sensory system disease 6867
            Otorhinolaryngologic Diseases 1692
              auditory system disease 946
                Hearing Disorders 776
                  Hearing Loss 772
                    sensorineural hearing loss 588
                      Bjornstad syndrome 1
paths to the root