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Bjornstad syndrome - Ontology Report - Rat Genome Database

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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: MIM:262000
 xref: GARD:22;   ORDO:123

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Path 1
Term Annotations click to browse term
  disease 14641
    syndrome 10018
      Bjornstad syndrome 1
Path 2
Term Annotations click to browse term
  disease 14641
    Pathological Conditions, Signs and Symptoms 11556
      Signs and Symptoms 9740
        Neurologic Manifestations 9431
          sensory system disease 6685
            Otorhinolaryngologic Diseases 1653
              auditory system disease 968
                Hearing Disorders 760
                  Hearing Loss 755
                    sensorineural hearing loss 570
                      Bjornstad syndrome 1
paths to the root