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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 impaired intellectual development syndrome
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Accession:DOID:0112321 term browser browse the term
Definition:A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35. (DO)
Synonyms:exact_synonym: AAMR;   alacrima, achalasia, and mental retardation syndrome
 primary_id: MIM:615510
 alt_id: DOID:9004427
 xref: NCI:C202544


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alacrima, achalasia, and impaired intellectual development syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppa GDP-mannose pyrophosphorylase A ISO
ISS 		OMIM:615510 OMIM
MouseDO		 NCBI chr 9:84,375,373...84,382,917
Ensembl chr 9:84,375,425...84,382,916 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      alacrima, achalasia, and impaired intellectual development syndrome 1
Path 2
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Signs and Symptoms 6804
        Neurologic Manifestations 5934
          sensory system disease 4800
            Otorhinolaryngologic Diseases 1186
              Pharyngeal Diseases 206
                Deglutition Disorders 30
                  dyskinesia of esophagus 22
                    achalasia 10
                      Familial Esophageal Achalasia 1
                        alacrima, achalasia, and impaired intellectual development syndrome 1
paths to the root