Preferred Name |
ALPHA-1-ANTITRYPSIN DEFICIENCY |
|
Synonyms |
A1ATD |
|
ID |
http://purl.bioontology.org/ontology/OMIM/613490 |
|
altLabel |
A1ATD |
|
cui |
C0221757 |
|
Gene Locus |
14q32.1 |
|
Gene Symbol |
PI SERPINA1 AAT |
|
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU043230 http://purl.bioontology.org/ontology/OMIM/MTHU043229 http://purl.bioontology.org/ontology/OMIM/MTHU009985 http://purl.bioontology.org/ontology/OMIM/MTHU019506 http://purl.bioontology.org/ontology/OMIM/MTHU019508 http://purl.bioontology.org/ontology/OMIM/MTHU039470 http://purl.bioontology.org/ontology/OMIM/MTHU019514 http://purl.bioontology.org/ontology/OMIM/MTHU019513 http://purl.bioontology.org/ontology/OMIM/MTHU043231 http://purl.bioontology.org/ontology/OMIM/MTHU002081 |
|
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
notation |
613490 |
|
OMIM Entry Type |
3 |
|
OMIM MimType Value |
pound |
|
prefLabel |
ALPHA-1-ANTITRYPSIN DEFICIENCY |
|
Scope Statement |
Caused by mutation in the protease inhibitor 1 gene (PI, 107400.0001) [MOLECULAR BASIS] Z allele most common, only in Caucasians [MISCELLANEOUS] Secondary prevention, avoid smoking, alcohol, and oxidants [MISCELLANEOUS] |
|
tui |
T047 |