Hereditary angioedema

Disease Term Disease ID Gene Symbol Classification References Source
F12-RELATED HEREDITARY ANGIOEDEMA WITH NORMAL C1INH
100054
F12 Unknown
20384613
Orphanet
HEREDITARY ANGIOEDEMA TYPE 1
100050MONDO:0015053
SERPING1 Causal
24456027
ClinVar GWAS catalog Orphanet
HEREDITARY ANGIOEDEMA TYPE 2
100051MONDO:0015054
SERPING1 Unknown
24456027
GWAS catalog Orphanet
HEREDITARY ANGIOEDEMA TYPE 3
MONDO:0012526
F12 Causal
16638441 17186468
ClinGen ClinVar GWAS catalog
HEREDITARY ANGIOEDEMA TYPE I
C2717906
C1S Unknown — Disgenet
SERPING1 Unknown — Disgenet
HEREDITARY ANGIOEDEMA TYPE III
C1857728MESH:D056828
ANGPT1 Unknown — Disgenet
F12 Unknown — CTD Disgenet
HEREDITARY ANGIOEDEMA TYPES I AND II
MESH:D056829C2717905
C1S Unknown
3184114
CTD
SERPING1 Unknown
15806011 1644161 18387221
CTD Disgenet
HEREDITARY ANGIOEDEMA WITH C1INH DEFICIENCY
C4552294MONDO:0033946
SERPING1 Causal
12402344 17137866 2118657 2723063 30059156 31982983 34354123 35386643 3587308 35958943 7883978 9234243
Disgenet
HEREDITARY ANGIOEDEMA WITH NORMAL C1INH NOT RELATED TO F12 OR PLG VARIANT
599418C5681601
ANGPT1 Unknown
28601681
Disgenet Orphanet
HS3ST6 Unknown
33799813
Disgenet Orphanet
KNG1 Unknown
33059692
Disgenet Orphanet
MYOF Unknown
33508266
Disgenet Orphanet