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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 ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome
ClinVar Annotator: match by term: Bosley Salih Alorainy syndrome
ClinVar Annotator: match by term: Athabaskan Brainstem Dysgenesis Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by synonym: Bosley-Salih-Alorainy syndrome
ClinVar Annotator: match by OMIM:601536
DNA:mutations:cds:185delG,175-176insG,76C>T(human)
ClinVar
CTD
OMIM
PMID:16155570, PMID:18412118, PMID:24239177, PMID:25741868, PMID:28492532, PMID:18412118 RGD:11553818 NCBI chr 4:82,124,358...82,127,182
Ensembl chr 4:82,125,406...82,127,066
JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome ClinVar NCBI chr 4:82,130,441...82,134,846
Ensembl chr 4:82,131,329...82,133,605
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    sensory system disease 5232
      eye disease 2665
        ocular motility disease 175
          Athabaskan brainstem dysgenesis syndrome 2
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        sensory system disease 5232
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              Hearing Disorders 623
                Hearing Loss 618
                  sensorineural hearing loss 493
                    Athabaskan brainstem dysgenesis syndrome 2
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.