alpha 1-antitrypsin deficiency
http://purl.obolibrary.org/obo/MONDO_0013282
Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis. [ Orphanet:60 ]
Term info
- ICD9:273.4 (MONDO:i2s)
- MedDRA:10001806 (Orphanet:60/e)
- Orphanet:60 (OMIM:613490)
- DOID:13372 (MONDO:equivalentTo)
- MESH:D019896 (Orphanet:60/e)
- NCIT:C84397 (MONDO:equivalentTo)
- SCTID:30188007 (MONDO:equivalentTo)
- GARD:0005784 (MONDO:equivalentTo)
- OMIM:613490 (Orphanet:60/e)
- ICD10CM:E88.01 (MONDO:equivalentTo)
- UMLS:C0221757 (Orphanet:60/e)
gard_rare, ordo_disease
https://github.com/monarch-initiative/mondo/issues/4521
http://identifiers.org/meddra/10001806
Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.
http://linkedlifedata.com/resource/umls/id/C0221757, http://purl.obolibrary.org/obo/Orphanet_60, http://purl.obolibrary.org/obo/DOID_13372, http://identifiers.org/mesh/D019896, https://omim.org/entry/613490, http://identifiers.org/snomedct/30188007, http://purl.bioontology.org/ontology/ICD10CM/E88.01, http://purl.obolibrary.org/obo/NCIT_C84397
http://purl.obolibrary.org/obo/MONDO_0019743
A-1ATD, hemorrhagic diathesis due to antithrombin pittsburgh, emphysema-cirrhosis, due to AAT deficiency, emphysema due to AAT deficiency, AAT deficiency, deficiency in Alpa-1-proteinase inhibitor, alpha 1-antitrypsin deficiency, A1AD
Alpha-1 antitrypsin deficiency, ALPHA-1-antitrypsin deficiency, alpha-1-antitrypsin deficiency, A1ATD, Alpha 1 antitrypsin deficiency, A1AT deficiency, AATD
MONDO:0013282
https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency