|
1
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0001305)
|
Dandy-Walker malformation |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
|
3
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
4
|
(HPO:0002250)
|
Abnormality of the large intestine |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
5
|
(HPO:0000951)
|
Abnormality of the skin |
Occasional [Orphanet]
|
|
|
|
147 / 7739
|
|
6
|
(HPO:0004452)
|
Abnormality of the middle ear ossicles |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
|
7
|
(HPO:0000137)
|
Abnormality of the ovary |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
8
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
9
|
(HPO:0000787)
|
Nephrolithiasis |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
10
|
(HPO:0000123)
|
Nephritis |
rare [HPO:skoehler]
|
|
|
|
18 / 7739
|
|
11
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
12
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
|
13
|
(HPO:0000230)
|
Gingivitis |
|
|
|
|
31 / 7739
|
|
14
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
15
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
|
16
|
(HPO:0000598)
|
Abnormality of the ear |
|
|
|
|
98 / 7739
|
|
17
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
18
|
(HPO:0000704)
|
Periodontitis |
|
|
|
|
24 / 7739
|
|
19
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
20
|
(HPO:0001600)
|
Abnormality of the larynx |
|
|
|
|
15 / 7739
|
|
21
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
|
|
73 / 7739
|
|
22
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
23
|
(HPO:0002588)
|
Duodenal ulcer |
|
|
|
|
15 / 7739
|
|
24
|
(HPO:0002788)
|
Recurrent upper respiratory tract infections |
|
|
|
|
31 / 7739
|
|
25
|
(OMIM)
|
Pseudomembranous inflammation of the middle ear |
|
|
|
|
2 / 7739
|
|
26
|
(MedDRA:10071570)
|
Ligneous conjunctivitis |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Chronic tearing |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Redness of the conjunctivae |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Formation of mucosal pseudomembranes that progress to plaques |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
31
|
(OMIM)
|
Ligneous gingivitis |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Pseudomembranous inflammation of the oral mucosa |
|
|
|
|
2 / 7739
|
|
33
|
(MedDRA:10044044)
|
Tooth loss |
|
|
|
|
6 / 7739
|
|
34
|
(OMIM)
|
Gingivitis, severe |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
No increased risk of thrombotic vascular events |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Pseudomembranous inflammation of the sinuses |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Pseudomembranous inflammation of the nasopharynx |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Pseudomembranous inflammation of the larynx |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
Pseudomembranous inflammation of the bronchi |
|
|
|
|
2 / 7739
|
|
40
|
(HPO:0006510)
|
Chronic obstructive pulmonary disease |
|
|
|
|
19 / 7739
|
|
41
|
(HPO:0006536)
|
Obstructive lung disease |
|
|
|
|
7 / 7739
|
|
42
|
(OMIM)
|
Pseudomembranous inflammation of the lung |
|
|
|
|
2 / 7739
|
|
43
|
(OMIM)
|
Pseudomembranous inflammation of the gastrointestinal mucosa |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
Pseudomembranous inflammation of the vaginal mucosa or cervix |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
Pseudomembranous, calcified plaques in the renal collecting system (rare) |
|
|
|
|
2 / 7739
|
|
46
|
(OMIM)
|
Acute nephritis (rare) |
|
|
|
|
2 / 7739
|
|
47
|
(OMIM)
|
Juvenile colloid milium |
|
|
|
|
2 / 7739
|
|
48
|
(OMIM)
|
Small papules on sun-exposed areas |
|
|
|
|
2 / 7739
|
|
49
|
(OMIM)
|
Occlusive hydrocephalus, congenital |
|
|
|
|
2 / 7739
|
|
50
|
(OMIM)
|
Decreased plasminogen antigen |
|
|
|
|
2 / 7739
|
|
51
|
(OMIM)
|
Decreased plasminogen activity |
|
|
|
|
2 / 7739
|
|
52
|
(OMIM)
|
Subepithelial fibrin deposition with inflammation (pseudomembranous inflammation) of mucosal tissues |
|
|
|
|
2 / 7739
|
|
53
|
(HPO:0012252)
|
Abnormal respiratory system morphology |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
54
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
55
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|