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ONTOLOGY REPORT - ANNOTATIONS


Term:alpha 1-antitrypsin deficiency
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Accession:DOID:13372 term browser browse the term
Definition:Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.
Synonyms:exact_synonym: A1ATD;   AAT deficiency;   Alpha-1 Protease Inhibitor Deficiency;   Alpha-1 Related Emphysema;   Genetic Emphysema;   Hereditary Pulmonary Emphysema;   Inherited Emphysema;   alpha 1-Antitrypsin Deficiencies;   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;   RDO:0000032;   RDO:0014672;   RDO:9001322
 xref: GARD:5784;   ICD10CM:E88.01;   ICD9CM:273.4;   NCI:C84397
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alpha 1-antitrypsin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpina1 serpin family A member 1 JBrowse link 6 127,610,241 127,632,265 RGD:7240710
RGD:8554872
RGD:11554173
RGD:14695047
RGD:14695049

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  disease 15849
    disease of anatomical entity 15241
      endocrine system disease 4920
        liver disease 2362
          alpha 1-antitrypsin deficiency 1
Path 2
Term Annotations click to browse term
  disease 15849
    Developmental Diseases 9271
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8086
        genetic disease 7599
          inherited metabolic disorder 2172
            plasma protein metabolism disease 8
              alpha 1-antitrypsin deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.