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ONTOLOGY REPORT - ANNOTATIONS


Term:Athabaskan brainstem dysgenesis syndrome
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Accession:DOID:0050682 term browser browse the term
Definition:An autosomal recessive disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. (DO)
Synonyms:exact_synonym: ABDS;   Athabaskan Brainstem Dysgenesis;   Bosley-Salih-Alorainy Syndrome;   Navajo brainstem syndrome
 narrow_synonym: BSAS
 primary_id: MESH:C535397
 alt_id: OMIM:601536;   RDO:0000498
 xref: ORDO:69739
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Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa1 homeobox A1 JBrowse link 4 82,124,358 82,127,182 RGD:8554872
RGD:11554173
RGD:11553818
RGD:7240710
G Hoxa2 homeobox A2 JBrowse link 4 82,130,441 82,134,846 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        Nervous System Malformations 741
          Athabaskan brainstem dysgenesis syndrome 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          Otorhinolaryngologic Diseases 1075
            auditory system disease 684
              Hearing Disorders 569
                Hearing Loss 565
                  sensorineural hearing loss 459
                    Athabaskan brainstem dysgenesis syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.