|
1
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
4
|
(HPO:0000704)
|
Periodontitis |
|
|
|
|
24 / 7739
|
|
5
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
|
|
78 / 7739
|
|
6
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
|
7
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
8
|
(HPO:0002588)
|
Duodenal ulcer |
|
|
|
|
15 / 7739
|
|
9
|
(HPO:0002788)
|
Recurrent upper respiratory tract infections |
|
|
|
|
31 / 7739
|
|
10
|
(OMIM)
|
Pseudomembranous inflammation of the middle ear |
|
|
|
|
2 / 7739
|
|
11
|
(MedDRA:10071570)
|
Ligneous conjunctivitis |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Chronic tearing |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Redness of the conjunctivae |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Formation of mucosal pseudomembranes that progress to plaques |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
16
|
(OMIM)
|
Ligneous gingivitis |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Pseudomembranous inflammation of the oral mucosa |
|
|
|
|
2 / 7739
|
|
18
|
(MedDRA:10044044)
|
Tooth loss |
|
|
|
|
6 / 7739
|
|
19
|
(OMIM)
|
Gingivitis, severe |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
No increased risk of thrombotic vascular events |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Pseudomembranous inflammation of the sinuses |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Pseudomembranous inflammation of the nasopharynx |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Pseudomembranous inflammation of the larynx |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Pseudomembranous inflammation of the bronchi |
|
|
|
|
2 / 7739
|
|
25
|
(HPO:0006510)
|
Chronic obstructive pulmonary disease |
|
|
|
|
19 / 7739
|
|
26
|
(HPO:0006536)
|
Obstructive lung disease |
|
|
|
|
7 / 7739
|
|
27
|
(OMIM)
|
Pseudomembranous inflammation of the lung |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Pseudomembranous inflammation of the gastrointestinal mucosa |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Pseudomembranous inflammation of the vaginal mucosa or cervix |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Pseudomembranous, calcified plaques in the renal collecting system (rare) |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Acute nephritis (rare) |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Juvenile colloid milium |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Small papules on sun-exposed areas |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Occlusive hydrocephalus, congenital |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Decreased plasminogen antigen |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Decreased plasminogen activity |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Subepithelial fibrin deposition with inflammation (pseudomembranous inflammation) of mucosal tissues |
|
|
|
|
2 / 7739
|