|
1
|
(HPO:0003326)
|
Myalgia |
Occasional [Orphanet]
|
|
|
|
143 / 7739
|
|
2
|
(HPO:0002105)
|
Hemoptysis |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
3
|
(HPO:0000790)
|
Hematuria |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
4
|
(HPO:0012089)
|
Arteritis |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
5
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
7
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
8
|
(HPO:0000541)
|
Retinal detachment |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
9
|
(MedDRA:10037394)
|
Pulmonary haemorrhage |
|
|
|
|
2 / 7739
|
|
10
|
(HPO:0005059)
|
Arthralgia/arthritis |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
|
11
|
(HPO:0100769)
|
Synovitis |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
|
12
|
(HPO:0002960)
|
Autoimmunity |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
13
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
14
|
(HPO:0000093)
|
Proteinuria |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
15
|
(HPO:0001945)
|
Fever |
Occasional [Orphanet]
|
|
|
|
218 / 7739
|
|
16
|
(HPO:0100749)
|
Chest pain |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
17
|
(HPO:0100820)
|
Glomerulopathy |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
18
|
(HPO:0002113)
|
Pulmonary infiltrates |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
19
|
(HPO:0000099)
|
Glomerulonephritis |
|
|
|
|
13 / 7739
|
|
20
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
|
21
|
(OMIM)
|
Circulating antibodies to alpha-3 chain of type IV collagen |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0002088)
|
Abnormality of lung morphology |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
23
|
([DEL]MedDRA:10011224)
|
Cough |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|