ONTOLOGY REPORT - ANNOTATIONS


Term:Athabaskan brainstem dysgenesis syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        Nervous System Malformations 663
          Athabaskan brainstem dysgenesis syndrome 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          Otorhinolaryngologic Diseases 1038
            auditory system disease 662
              Hearing Disorders 551
                Hearing Loss 547
                  sensorineural hearing loss 428
                    Athabaskan brainstem dysgenesis syndrome 2
paths to the root

NHLBI Logo

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