1
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
2
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
3
|
(HPO:0000076)
|
Vesicoureteral reflux |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
4
|
(HPO:0000202)
|
Oral cleft |
Very frequent [Orphanet]
|
|
|
|
120 / 7739
|
5
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
6
|
(HPO:0000276)
|
Long face |
Frequent [Orphanet]
|
|
|
|
109 / 7739
|
7
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
8
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
9
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
10
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
11
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
12
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
13
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
14
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
15
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
16
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
17
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
18
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
|
|
185 / 7739
|
19
|
(HPO:0000600)
|
Abnormality of the pharynx |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
20
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
21
|
(HPO:0000682)
|
Abnormality of dental enamel |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
22
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
23
|
(HPO:0000765)
|
Abnormality of the thorax |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
24
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
25
|
(HPO:0000829)
|
Hypoparathyroidism |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
26
|
(HPO:0000836)
|
Hyperthyroidism |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
27
|
(HPO:0001051)
|
Seborrheic dermatitis |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
28
|
(HPO:0001061)
|
Acne |
Frequent [Orphanet]
23% [HPO:probinson]
|
|
|
|
33 / 7739
|
29
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
30
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
31
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
32
|
(HPO:0001363)
|
Craniosynostosis |
Occasional [Orphanet]
|
|
|
|
132 / 7739
|
33
|
(HPO:0001511)
|
Intrauterine growth retardation |
Occasional [Orphanet]
|
|
|
|
358 / 7739
|
34
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
35
|
(HPO:0001608)
|
Abnormality of the voice |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
36
|
(HPO:0001629)
|
Ventricular septal defect |
Very frequent [Orphanet]
|
|
|
|
316 / 7739
|
37
|
(HPO:0001631)
|
Atria septal defect |
Very frequent [Orphanet]
|
|
|
|
274 / 7739
|
38
|
(HPO:0001636)
|
Tetralogy of Fallot |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
39
|
(HPO:0001641)
|
Abnormality of the pulmonary valve |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
40
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
41
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
42
|
(HPO:0001660)
|
Truncus arteriosus |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
43
|
(HPO:0001702)
|
Abnormality of the tricuspid valve |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
44
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
45
|
(HPO:0001829)
|
Foot polydactyly |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
46
|
(HPO:0001873)
|
Thrombocytopenia |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
47
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
48
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
49
|
(HPO:0002099)
|
Asthma |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
50
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
51
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Occasional [Orphanet]
|
|
|
|
97 / 7739
|
52
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
53
|
(HPO:0002414)
|
Spina bifida |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
54
|
(HPO:0002566)
|
Intestinal malrotation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
55
|
(HPO:0002607)
|
Bowel incontinence |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
56
|
(HPO:0002901)
|
Hypocalcemia |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
57
|
(HPO:0002960)
|
Autoimmunity |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
58
|
(HPO:0002999)
|
Patellar dislocation |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
59
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
60
|
(HPO:0005293)
|
Venous insufficiency |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
61
|
(HPO:0006510)
|
Chronic obstructive pulmonary disease |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
62
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
63
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
64
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
65
|
(HPO:0010515)
|
Aplasia/Hypoplasia of the thymus |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
66
|
(HPO:0100735)
|
Hypertensive crisis |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
67
|
(HPO:0100750)
|
Atelectasis |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
68
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
69
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
70
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
71
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
72
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
|
|
|
|
355 / 7739
|
73
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
74
|
(HPO:0100769)
|
Synovitis |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
75
|
(HPO:0000272)
|
Malar flattening |
Frequent [Orphanet]
|
|
|
|
277 / 7739
|
76
|
(HPO:0000752)
|
Hyperactivity |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
77
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
78
|
(HPO:0001872)
|
Abnormality of thrombocytes |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
79
|
(HPO:0000389)
|
Chronic otitis media |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
80
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
81
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
82
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
83
|
(HPO:0000077)
|
Abnormality of the kidney |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
84
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
85
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
86
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
87
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
88
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
89
|
(HPO:0012437)
|
Abnormal gallbladder morphology |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
90
|
(HPO:0002577)
|
Abnormality of the stomach |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
91
|
(HPO:0012443)
|
Abnormality of brain morphology |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
92
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
93
|
(HPO:0008544)
|
Abnormally folded helix |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
94
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
95
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
96
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Very frequent [Orphanet]
|
|
|
|
57 / 7739
|
97
|
(HPO:0000107)
|
Renal cyst |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
98
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
99
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
100
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
101
|
(HPO:0000122)
|
Unilateral renal agenesis |
|
|
|
|
24 / 7739
|
102
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
103
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
104
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
105
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
106
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
107
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
108
|
(HPO:0000370)
|
Abnormality of the middle ear |
|
|
|
|
2 / 7739
|
109
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
110
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
111
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
112
|
(HPO:0000627)
|
Posterior embryotoxon |
|
|
|
|
15 / 7739
|
113
|
(HPO:0000646)
|
Amblyopia |
|
|
|
|
42 / 7739
|
114
|
(HPO:0000647)
|
Sclerocornea |
|
|
|
|
25 / 7739
|
115
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
116
|
(HPO:0000777)
|
Abnormality of the thymus |
|
|
|
|
9 / 7739
|
117
|
(HPO:0000860)
|
Parathyroid hypoplasia |
|
|
|
|
3 / 7739
|
118
|
(HPO:0001081)
|
Cholelithiasis |
|
|
|
|
36 / 7739
|
119
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
120
|
(HPO:0001281)
|
Tetany |
|
|
|
|
20 / 7739
|
121
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
122
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
123
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
124
|
(HPO:0002627)
|
Right aortic arch with mirror image branching |
|
|
|
|
5 / 7739
|
125
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
126
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
127
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
128
|
(HPO:0005435)
|
Impaired T cell function |
|
|
|
|
9 / 7739
|
129
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
130
|
(HPO:0007302)
|
Bipolar affective disorder |
|
|
|
|
15 / 7739
|
131
|
(HPO:0008211)
|
Parathyroid agenesis |
|
|
|
|
2 / 7739
|
132
|
(HPO:0011611)
|
Interrupted aortic arch |
|
|
|
|
10 / 7739
|
133
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|
134
|
(HPO:0100541)
|
Femoral hernia |
|
|
|
|
7 / 7739
|
135
|
(HPO:0100753)
|
Schizophrenia |
22 % [HPO:skoehler]
|
|
|
|
20 / 7739
|