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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: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
 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 ClinVar Annotator: match by OMIM:613490
ClinVar Annotator: match by term: Alpha-1 Antitrypsin Deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
ClinVar Annotator: match by term: PI Q0(LUDWIGSHAFEN)
DNA:polymorphisms:cds:
ClinVar Annotator: match by term: PI M(NICHINAN)
ClinVar Annotator: match by term: PI Q0(BELLINGHAM)
ClinVar Annotator: match by term: PI Q0(CARDIFF)
ClinVar Annotator: match by term: AAT deficiency
ClinVar Annotator: match by term: PI M(HEERLEN)
OMIM
ClinVar
CTD
PMID:301355 PMID:412531 PMID:1082356 PMID:1504305 PMID:1552539 PMID:1569192 PMID:1608473 PMID:1730596 PMID:1889260 PMID:1905728 PMID:1967187 PMID:1969347 PMID:1975477 PMID:2035534 PMID:2185272 PMID:2227940 PMID:2240842 PMID:2254451 PMID:2309708 PMID:2339709 PMID:2390072 PMID:2394452 PMID:2481421 PMID:2539391 PMID:2567291 PMID:2575668 PMID:2606478 PMID:2642408 PMID:2696185 PMID:2700304 PMID:2784123 PMID:2787118 PMID:2807278 PMID:2831367 PMID:2901226 PMID:2904702 PMID:2989709 PMID:3038256 PMID:3040726 PMID:3257351 PMID:3262617 PMID:3264419 PMID:3484754 PMID:3484755 PMID:3484756 PMID:3485249 PMID:3496639 PMID:3500183 PMID:3527273 PMID:3537008 PMID:3875547 PMID:6093867 PMID:6306478 PMID:6602622 PMID:6604220 PMID:7045697 PMID:7227484 PMID:7706910 PMID:7977369 PMID:7980208 PMID:8182727 PMID:8340361 PMID:8358043 PMID:8364536 PMID:8364590 PMID:8499914 PMID:8520784 PMID:8912354 PMID:8970361 PMID:9041988 PMID:9070606 PMID:9195389 PMID:9459000 PMID:9569237 PMID:9635295 PMID:10194472 PMID:10234508 PMID:10878477 PMID:10954248 PMID:11214903 PMID:11334395 PMID:11474657 PMID:11524735 PMID:12034572 PMID:12935698 PMID:14522813 PMID:14551891 PMID:14767073 PMID:14985567 PMID:15115878 PMID:15454649 PMID:15486938 PMID:15711957 PMID:15744045 PMID:15949707 PMID:15978931 PMID:15994391 PMID:16608528 PMID:17559149 PMID:17906067 PMID:17964515 PMID:18024524 PMID:18294358 PMID:18340647 PMID:18353624 PMID:18414213 PMID:18515255 PMID:18565211 PMID:18566672 PMID:18682522 PMID:19083091 PMID:19280649 PMID:19398551 PMID:19437508 PMID:19444872 PMID:19654085 PMID:19738092 PMID:19956452 PMID:20301692 PMID:20453271 PMID:20981092 PMID:21067581 PMID:21228398 PMID:21474916 PMID:21637600 PMID:21752289 PMID:21960536 PMID:22016686 PMID:22078084 PMID:22215832 PMID:22426792 PMID:22723858 PMID:22735536 PMID:22912357 PMID:22912729 PMID:22933512 PMID:22971141 PMID:22975760 PMID:23632999 PMID:23837941 PMID:23858502 PMID:23907436 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24328305 PMID:24428606 PMID:24518491 PMID:24713750 PMID:25098359 PMID:25181470 PMID:25391508 PMID:25425243 PMID:25454901 PMID:25741868 PMID:26141072 PMID:26243289 PMID:26304913 PMID:26310624 PMID:26321041 PMID:26604020 PMID:26672964 PMID:26831755 PMID:26987331 PMID:27296815 PMID:27465791 PMID:28492532 PMID:30585791, PMID:18515255, PMID:29641323 RGD:14695047, RGD:14695049 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      endocrine system disease 5713
        liver disease 2423
          alpha 1-antitrypsin 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
            plasma protein metabolism disease 8
              alpha 1-antitrypsin deficiency 1
paths to the root