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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;   HOXA1-RELATED CONDITION;   Navajo brainstem syndrome
 related_synonym: BSAS;   Bosley-Salih-Alorainy syndrome
 primary_id: MESH:C535397
 alt_id: OMIM:601536
 xref: ORDO:69739


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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
ISS		 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: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome
OMIM:601536		 CTD
OMIM
ClinVar
MouseDO
RGD		 PMID:16155570 PMID:18412118 PMID:24239177 PMID:25741868 PMID:28492532 More... RGD:11553818 NCBI chr 4:81,255,814...81,258,587
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 PMID:25741868 NCBI chr 4:81,262,668...81,266,970
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 21126
    sensory system disease 6948
      eye disease 3480
        ocular motility disease 243
          Athabaskan brainstem dysgenesis syndrome 2
Path 2
Term Annotations click to browse term
  disease 21126
    Pathological Conditions, Signs and Symptoms 13335
      Signs and Symptoms 10811
        Neurologic Manifestations 10043
          sensory system disease 6948
            Otorhinolaryngologic Diseases 1736
              auditory system disease 993
                Hearing Disorders 820
                  Hearing Loss 815
                    sensorineural hearing loss 625
                      Athabaskan brainstem dysgenesis syndrome 2
paths to the root