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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:262000
ClinVar Annotator: match by term: BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
ClinVar Annotator: match by term: Pili torti-deafness syndrome
ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency
OMIM
ClinVar
PMID:9545407, PMID:11528392, PMID:12215968, PMID:12547234, PMID:12910490, PMID:17314340, PMID:17403714, PMID:18386115, PMID:19389488, PMID:19508421, PMID:20518024, PMID:21274865, PMID:22277166, PMID:24172246, PMID:25741868, PMID:25895478, PMID:25914718, PMID:28492532 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Bjornstad syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  sensorineural hearing loss 489
                    Bjornstad syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.