1
|
(HPO:0010719)
|
Abnormality of hair texture |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
2
|
(HPO:0000015)
|
Bladder diverticulum |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
3
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
4
|
(HPO:0000387)
|
Absent earlobe |
|
|
|
|
5 / 7739
|
5
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
6
|
(HPO:0000563)
|
Keratoconus |
|
|
|
|
25 / 7739
|
7
|
(HPO:0002758)
|
Osteoarthritis |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
8
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
9
|
(HPO:0002315)
|
Headache |
Occasional [Orphanet]
|
|
|
|
175 / 7739
|
10
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
11
|
(HPO:0000490)
|
Deeply set eye |
Occasional [Orphanet]
|
|
|
|
131 / 7739
|
12
|
(HPO:0001654)
|
Abnormality of the heart valves |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
13
|
(HPO:0100678)
|
Premature skin wrinkling |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
14
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
15
|
(HPO:0010285)
|
Oral synechia |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
16
|
(HPO:0000822)
|
Hypertension |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
17
|
(HPO:0000995)
|
Melanocytic nevus |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
18
|
(HPO:0000233)
|
Thin vermilion border |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
19
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
20
|
(HPO:0100784)
|
Peripheral arteriovenous fistula |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
21
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
22
|
(HPO:0100585)
|
Telangiectasia of the skin |
Frequent [Orphanet]
|
|
|
|
66 / 7739
|
23
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
24
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
25
|
(HPO:0002140)
|
Ischemic stroke |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
26
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
27
|
(HPO:0100026)
|
Arteriovenous malformation |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
28
|
(HPO:0000168)
|
Abnormality of the gingiva |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
29
|
(HPO:0000912)
|
Sprengel anomaly |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
30
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
31
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
32
|
(HPO:0002104)
|
Apnea |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
33
|
(HPO:0005294)
|
Arterial dissection |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
34
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
35
|
(HPO:0002900)
|
Hypokalemia |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
36
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
147 / 7739
|
37
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
38
|
(HPO:0005293)
|
Venous insufficiency |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
39
|
(HPO:0000691)
|
Microdontia |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
40
|
(HPO:0002616)
|
Aortic root dilatation |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
41
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
42
|
(HPO:0100550)
|
Tendon rupture |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
43
|
(HPO:0002797)
|
Osteolysis |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
44
|
(HPO:0003394)
|
Muscle cramps |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
45
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
46
|
(HPO:0000670)
|
Carious teeth |
Very frequent [Orphanet]
|
|
|
|
145 / 7739
|
47
|
(HPO:0011029)
|
Internal hemorrhage |
Very frequent [Orphanet]
|
|
|
|
4 / 7739
|
48
|
(HPO:0002103)
|
Abnormality of the pleura |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
49
|
(HPO:0000978)
|
Bruising susceptibility |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
50
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
51
|
(HPO:0000615)
|
Abnormality of the pupil |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
52
|
(HPO:0000790)
|
Hematuria |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
53
|
(HPO:0002647)
|
Aortic dissection |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
54
|
(HPO:0100817)
|
Renovascular hypertension |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
55
|
(HPO:0001373)
|
Joint dislocation |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
56
|
(HPO:0003010)
|
Prolonged bleeding time |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
57
|
(HPO:0001063)
|
Acrocyanosis |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
58
|
(HPO:0001622)
|
Premature birth |
Frequent [Orphanet]
|
|
|
|
100 / 7739
|
59
|
(HPO:0000230)
|
Gingivitis |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
60
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
61
|
(HPO:0001582)
|
Redundant skin |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
62
|
(HPO:0000271)
|
Abnormality of the face |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
63
|
(HPO:0002141)
|
Gait imbalance |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
64
|
(HPO:0001238)
|
Slender finger |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
65
|
(HPO:0001596)
|
Alopecia |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
66
|
(HPO:0100718)
|
Uterine rupture |
Occasional [Orphanet]
|
|
|
|
3 / 7739
|
67
|
(HPO:0005244)
|
Gastrointestinal infarctions |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
68
|
(HPO:0100545)
|
Arterial stenosis |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
69
|
(HPO:0000767)
|
Pectus excavatum |
Very frequent [Orphanet]
|
|
|
|
244 / 7739
|
70
|
(HPO:0000446)
|
Narrow nasal bridge |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
71
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
72
|
(HPO:0000592)
|
Blue sclerae |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
73
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
74
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
75
|
(HPO:0006323)
|
Premature loss of primary teeth |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
76
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
77
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
78
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
79
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
80
|
(HPO:0012368)
|
Flat face |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
81
|
(HPO:0100645)
|
Cystocele |
Occasional [Orphanet]
|
|
|
|
2 / 7739
|
82
|
(HPO:0000079)
|
Abnormality of the urinary system |
|
|
|
|
88 / 7739
|
83
|
(HPO:0000139)
|
Uterine prolapse |
|
|
|
|
6 / 7739
|
84
|
(HPO:0000704)
|
Periodontitis |
|
|
|
|
24 / 7739
|
85
|
(HPO:0000987)
|
Atypical scarring of skin |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
86
|
(HPO:0000993)
|
Molluscoid pseudotumors |
|
|
|
|
8 / 7739
|
87
|
(HPO:0001030)
|
Fragile skin |
|
|
|
|
25 / 7739
|
88
|
(HPO:0001073)
|
Cigarette-paper scars |
|
|
|
|
7 / 7739
|
89
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
90
|
(HPO:0001842)
|
Foot acroosteolysis |
|
|
|
|
4 / 7739
|
91
|
(HPO:0002105)
|
Hemoptysis |
|
|
|
|
30 / 7739
|
92
|
(HPO:0002108)
|
Spontaneous pneumothorax |
|
|
|
|
3 / 7739
|
93
|
(HPO:0002242)
|
Abnormality of the intestine |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
94
|
(HPO:0002293)
|
Alopecia of scalp |
|
|
|
|
9 / 7739
|
95
|
(HPO:0002617)
|
Aneurysm |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
96
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
97
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
98
|
(HPO:0004944)
|
Cerebral aneurysm |
|
|
|
|
12 / 7739
|
99
|
(HPO:0005267)
|
Premature delivery because of cervical insufficiency or membrane fragility |
|
|
|
|
1 / 7739
|
100
|
(HPO:0006201)
|
Hypermobility of distal interphalangeal joints |
|
|
|
|
1 / 7739
|
101
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|
102
|
(HPO:0009771)
|
Osteolytic defects of the phalanges of the hand |
|
|
|
|
17 / 7739
|
103
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
104
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
105
|
(OMIM)
|
Pinched, thin nose |
|
|
|
|
1 / 7739
|
106
|
(OMIM)
|
Early loss of teeth |
|
|
|
|
1 / 7739
|
107
|
(OMIM)
|
Spontaneous rupture of bowel |
|
|
|
|
1 / 7739
|
108
|
(OMIM)
|
Uterine rupture associated with pregnancy |
|
|
|
|
1 / 7739
|
109
|
(MedDRA:10048475)
|
Bladder prolapse |
|
|
|
|
2 / 7739
|
110
|
(OMIM)
|
Atrophic skin over ears |
|
|
|
|
1 / 7739
|
111
|
(OMIM)
|
Prominent venous markings |
|
|
|
|
1 / 7739
|
112
|
(OMIM)
|
Absent-mild skin hyperextensibility |
|
|
|
|
1 / 7739
|
113
|
(OMIM)
|
Skin changes worse in areas of lower skin temperature |
|
|
|
|
1 / 7739
|
114
|
(OMIM)
|
Acrogeria (skin over hands and feet are thin and finely wrinkled) |
|
|
|
|
1 / 7739
|
115
|
(OMIM)
|
Type III collagen defect |
|
|
|
|
1 / 7739
|
116
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
117
|
(HPO:0100692)
|
Increased corneal curvature |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
118
|
(HPO:0012719)
|
Functional abnormality of the gastrointestinal tract |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
119
|
(HPO:0012718)
|
Morphological abnormality of the gastrointestinal tract |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
120
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
121
|
(MedDRA:10025421)
|
Macule |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
122
|
(HPO:0001031)
|
Subcutaneous lipoma |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
123
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
124
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
125
|
(HPO:0000153)
|
Abnormality of the mouth |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
126
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
127
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
128
|
(HPO:0002577)
|
Abnormality of the stomach |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
129
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|