1
|
(HPO:0000071)
|
Ureteral stenosis |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
2
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
3
|
(HPO:0000100)
|
Nephrotic syndrome |
Occasional [Orphanet]
|
|
|
|
83 / 7739
|
4
|
(HPO:0000221)
|
Furrowed tongue |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
5
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
6
|
(HPO:0000498)
|
Blepharitis |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
7
|
(HPO:0000632)
|
Lacrimation abnormality |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
8
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
9
|
(HPO:0000682)
|
Abnormality of dental enamel |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
10
|
(HPO:0000964)
|
Eczema |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
11
|
(HPO:0000987)
|
Atypical scarring of skin |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
12
|
(HPO:0001053)
|
Hypopigmented skin patches |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
13
|
(HPO:0001155)
|
Abnormality of the hand |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
14
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
15
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
16
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
17
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
18
|
(HPO:0002024)
|
Malabsorption |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
19
|
(HPO:0002091)
|
Restrictive ventilatory defect |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
20
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
21
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
22
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
23
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
24
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
25
|
(HPO:0100326)
|
Immunologic hypersensitivity |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
26
|
(HPO:0100587)
|
Abnormality of the preputium |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
27
|
(HPO:0100758)
|
Gangrene |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
28
|
(HPO:0100820)
|
Glomerulopathy |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
29
|
(HPO:0100825)
|
Cheilitis |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
30
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
31
|
(HPO:0004378)
|
Abnormality of the anus |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
32
|
(HPO:0002664)
|
Neoplasm |
Frequent [Orphanet]
|
|
|
|
111 / 7739
|
33
|
(HPO:0001760)
|
Abnormality of the foot |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
34
|
(HPO:0001602)
|
Laryngeal stenosis |
Frequent [Orphanet]
|
|
|
|
21 / 7739
|
35
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
36
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
37
|
(HPO:0001597)
|
Abnormality of the nail |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
38
|
(HPO:0002140)
|
Ischemic stroke |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
39
|
(HPO:0000389)
|
Chronic otitis media |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
40
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
41
|
(HPO:0001804)
|
Hypoplastic fingernail |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
42
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
43
|
(HPO:0010161)
|
Abnormality of the phalanges of the toes |
Frequent [Orphanet]
|
|
|
|
3 / 7739
|
44
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
45
|
(HPO:0001171)
|
Split hand |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
46
|
(HPO:0030350)
|
Erythematous papule |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
47
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
48
|
(HPO:0000492)
|
Abnormality of the eyelid |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
49
|
(HPO:0011037)
|
Decreased urine output |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|