loading...| Preferred Name |
Hereditary Angioedema Types I and II |
| Synonyms |
Angioedema, Hereditary, Type II |
| Definitions |
Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein. |
| ID |
http://purl.bioontology.org/ontology/MESH/D056829 |
| altLabel |
Angioedema, Hereditary, Type II Hereditary Angioedema Type II C1 Esterase Inhibitor, Deficiency Of Angioedema, Hereditary, Types I and II Hereditary Angioedema Type I Angioedema, Hereditary, Type I Deficiency of C1 Esterase Inhibitor Hereditary Angioedema Type 1 |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C1862892 C2717906 C2717905 |
| DC |
1 |
| definition |
Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein. |
| DX |
20100101 |
| FX |
D050718 |
| HN |
2010 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Inverse of SIB | |
| Machine permutation |
2010 |
| MDA |
20090706 |
| MMR |
20120703 |
| MN |
C14.907.079.500.750 C20.543.480.904.066.500.750 C17.800.862.945.066.500.750 |
| notation |
D056829 |
| prefLabel |
Hereditary Angioedema Types I and II |
| TERMUI |
T734802 T816747 T734801 T816748 T734800 T734804 T734803 T734799 T811608 |
| TH |
NLM (2013) NLM (2010) ORD (2010) OMIM (2013) |
| tui |
T047 |
| subClassOf |