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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:Athabaskan brainstem dysgenesis syndrome
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Accession:DOID:0050682 term browser browse the term
Definition:A brain 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
 xref: ORDO:69739
For additional species annotation, visit the Alliance of Genome Resources.



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Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:185delG,175-176insG,76C>T(human)
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome
CTD
OMIM
ClinVar
RGD
PMID:16155570 PMID:18412118 PMID:24239177 PMID:25741868 PMID:28492532 More... RGD:11553818 NCBI chr 4:81,255,814...81,258,504
Ensembl chr 4:81,255,883...81,258,504
JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome ClinVar Ensembl chr 4:81,262,768...81,265,044 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    sensory system disease 6435
      eye disease 2964
        ocular motility disease 165
          Athabaskan brainstem dysgenesis syndrome 2
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        sensory system disease 6435
          Otorhinolaryngologic Diseases 1667
            auditory system disease 1070
              Hearing Disorders 808
                Hearing Loss 804
                  sensorineural hearing loss 662
                    Athabaskan brainstem dysgenesis syndrome 2
paths to the root