loading...| Preferred Name |
ANGIOEDEMA, HEREDITARY, TYPE III |
| Synonyms |
ESTROGEN-RELATED HAE |
| ID |
http://purl.bioontology.org/ontology/OMIM/610618 |
| altLabel |
ESTROGEN-RELATED HAE ESTROGEN-SENSITIVE HAE ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION HAE III HEREDITARY ANGIOEDEMA WITH NORMAL C1 INHIBITOR ACTIVITY HAE3 |
| cui |
C1857728 |
| Gene Locus |
5q33-qter |
| Gene Symbol |
F12 HAF HAE3 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU043010 http://purl.bioontology.org/ontology/OMIM/MTHU043014 http://purl.bioontology.org/ontology/OMIM/MTHU043012 http://purl.bioontology.org/ontology/OMIM/MTHU043007 http://purl.bioontology.org/ontology/OMIM/MTHU043009 http://purl.bioontology.org/ontology/OMIM/MTHU043013 http://purl.bioontology.org/ontology/OMIM/MTHU043011 http://purl.bioontology.org/ontology/OMIM/MTHU043015 http://purl.bioontology.org/ontology/OMIM/MTHU006743 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
300268 |
| notation |
610618 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
ANGIOEDEMA, HEREDITARY, TYPE III |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D056828 | Medical Subject Headings | CUI |