loading...| Preferred Name |
ANTITHROMBIN III DEFICIENCY |
| Synonyms |
AT3D |
| ID |
http://purl.bioontology.org/ontology/OMIM/613118 |
| altLabel |
AT3D THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY THPH7 |
| cui |
C0272375 |
| Gene Locus |
1q23-q25 |
| Gene Symbol |
AT3D SERPINC1 AT3 THPH7 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU001757 http://purl.bioontology.org/ontology/OMIM/MTHU019523 http://purl.bioontology.org/ontology/OMIM/MTHU026780 http://purl.bioontology.org/ontology/OMIM/MTHU019519 http://purl.bioontology.org/ontology/OMIM/MTHU019521 http://purl.bioontology.org/ontology/OMIM/MTHU019520 http://purl.bioontology.org/ontology/OMIM/MTHU019526 http://purl.bioontology.org/ontology/OMIM/MTHU019524 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
613118 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
ANTITHROMBIN III DEFICIENCY |
| Scope Statement |
Caused by mutation in the antithrombin III gene (AT3, 107300.0001) [MOLECULAR BASIS] |
| tui |
T047 |