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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:alpha 1-antitrypsin deficiency
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Accession:DOID:13372 term browser browse the term
Definition:A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. (DO)
Synonyms:exact_synonym: A1ATD;   AAT deficiency;   Alpha-1 Related Emphysema;   Genetic Emphysema;   Hereditary Pulmonary Emphysema;   Inherited Emphysema;   alpha 1-antitrypsin deficiencies;   alpha-1 protease inhibitor deficiency;   alpha-1-antitrypsin deficiency, autosomal recessive
 narrow_synonym: Emphysema due to AAT deficiency;   Emphysema-cirrhosis, due to AAT deficiency;   HEMORRHAGIC DISEASE DUE TO ALPHA-1-ANTITRYPSIN PITTSBURGH MUTATION;   Hemorrhagic diathesis due to antithrombin Pittsburgh
 related_synonym: 'ANTITHROMBIN' PITTSBURGH;   PI M(HEERLEN);   PI M(NICHINAN);   PI NULL(BELLINGHAM);   PI NULL(CARDIFF);   PI NULL(DEVON);   PI NULL(ISOLA DI PROCIDA);   PI NULL(LUDWIGSHAFEN);   PI NULL(NEWPORT);   PI NULL(PROCIDA);   PI P(DUARTE);   PI P(LOWELL);   PI PITTSBURGH;   PI Q0(BELLINGHAM);   PI Q0(CARDIFF);   PI Q0(DEVON);   PI Q0(GRANITE FALLS);   PI Q0(LUDWIGSHAFEN);   PI Q0(NEWPORT);   PI Q0(PROCIDA);   PI S(iiyama);   PI W(Bethesda);   PI Z(Bristol)
 primary_id: MESH:D019896
 alt_id: MESH:C566273;   OMIM:613490
 xref: GARD:5784;   ICD10CM:E88.01;   ICD9CM:273.4;   NCI:C84397;   ORDO:60
For additional species annotation, visit the Alliance of Genome Resources.



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alpha 1-antitrypsin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpina1 serpin family A member 1 treatment ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:
ClinVar Annotator: match by term: AAT deficiency | ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency | ClinVar Annotator: match by term: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | ClinVar Annotator: match by term: PI M(HEERLEN) | ClinVar Annotator: match by term: PI NULL(PROCIDA) | ClinVar Annotator: match by term: PI Q0(BELLINGHAM) | ClinVar Annotator: match by term: PI Q0(CARDIFF) | ClinVar Annotator: match by term: PI Q0(GRANITE FALLS) | ClinVar Annotator: match by term: PI Q0(LUDWIGSHAFEN) | ClinVar Annotator: match by term: PI Q0(NEWPORT) | ClinVar Annotator: match by term: PI S(IIYAMA) | ClinVar Annotator: match by term: PI W(BETHESDA) | ClinVar Annotator: match by term: PI Z(BRISTOL)
OMIM
CTD
ClinVar
RGD
PMID:301355 PMID:412531 PMID:1082356 PMID:1504305 PMID:1552539 More... RGD:14695047, RGD:14695049 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      endocrine system disease 0
        liver disease 2632
          alpha 1-antitrypsin deficiency 1
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          inherited metabolic disorder 4671
            plasma protein metabolism disease 8
              alpha 1-antitrypsin deficiency 1
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