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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:Alacrima, Achalasia, and Mental Retardation Syndrome
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Accession:DOID:9004427 term browser browse the term
Synonyms:exact_synonym: AAMR
 primary_id: OMIM:615510;   RDO:9000973
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Alacrima, Achalasia, and Mental Retardation Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by OMIM:615510
ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
OMIM
ClinVar
PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 NCBI chr 9:82,632,267...82,639,811
Ensembl chr 9:82,632,230...82,639,821
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Alacrima, Achalasia, and Mental Retardation Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          Otorhinolaryngologic Diseases 1168
            Pharyngeal Diseases 167
              Deglutition Disorders 29
                dyskinesia of esophagus 20
                  achalasia 10
                    Familial Esophageal Achalasia 1
                      Alacrima, Achalasia, and Mental Retardation Syndrome 1
paths to the root