Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 GMPPA on chromosome 2q35. (DO)
Synonyms:exact_synonym: AAMR;   alacrima, achalasia, and mental retardation syndrome
 primary_id: OMIM:615510
 alt_id: DOID:9004427
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 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 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      alacrima, achalasia, and impaired intellectual development syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          Otorhinolaryngologic Diseases 1349
            Pharyngeal Diseases 184
              Deglutition Disorders 31
                dyskinesia of esophagus 21
                  achalasia 10
                    Familial Esophageal Achalasia 1
                      alacrima, achalasia, and impaired intellectual development syndrome 1
paths to the root