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:Aminoacylase 1 Deficiency
go back to main search page
Accession:DOID:9003016 term browser browse the term
Synonyms:exact_synonym: ACY1D;   Deficiency of the aminoacylase-1 enzyme
 primary_id: MESH:C538246;   RDO:0004197
 alt_id: OMIM:609924
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Aminoacylase 1 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acy1 aminoacylase 1 ISO ClinVar Annotator: match by term: Aminoacylase 1 deficiency
ClinVar Annotator: match by term: Deficiency of the aminoacylase-1 enzyme
ClinVar
OMIM
PMID:16274666 PMID:16465618 PMID:17562838 PMID:21414403 PMID:24117009 PMID:25741868 PMID:28492532 NCBI chr 8:115,134,792...115,140,171
Ensembl chr 8:115,134,765...115,140,080
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          amino acid metabolic disorder 448
            Aminoacylase 1 Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            amino acid metabolic disorder 448
              Aminoacylase 1 Deficiency 1
paths to the root