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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;   SERPINA1-RELATED CONDITION;   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: EFO:0002946;   GARD:5784;   ICD10CM:E88.01;   ICD9CM:273.4;   MONDO:0013282;   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 IAGP
EXP
IMP		 ClinVar Annotator: match by term: PI Q0(NEWPORT)
ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
ClinVar Annotator: match by term: AAT deficiency
ClinVar Annotator: match by term: PI NULL(PROCIDA)
ClinVar Annotator: match by term: PI S(IIYAMA)
ClinVar Annotator: match by term: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
ClinVar Annotator: match by term: PI Q0(LUDWIGSHAFEN)
ClinVar Annotator: match by term: PI W(BETHESDA)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:
ClinVar Annotator: match by term: SERPINA1-related condition
ClinVar Annotator: match by term: PI Z(BRISTOL)
ClinVar Annotator: match by term: PI Q0(GRANITE FALLS)
ClinVar Annotator: match by term: PI Q0(BELLINGHAM)
ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency | ClinVar Annotator: match by term: SERPINA1-related condition		 ClinVar
OMIM
CTD
RGD		 PMID:301355 PMID:412531 PMID:1082356 PMID:1504305 PMID:1552539 More... RGD:14695047, RGD:14695049 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      endocrine system disease 7704
        liver disease 3104
          alpha 1-antitrypsin deficiency 1
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          inherited metabolic disorder 7856
            plasma protein metabolism disease 10
              alpha 1-antitrypsin deficiency 1
paths to the root