1
|
(HPO:0000076)
|
Vesicoureteral reflux |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
2
|
(HPO:0000217)
|
Xerostomia |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
4
|
(HPO:0000453)
|
Choanal atresia |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
5
|
(HPO:0000492)
|
Abnormality of the eyelid |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
6
|
(HPO:0000574)
|
Thick eyebrow |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
7
|
(HPO:0000613)
|
Photophobia |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
8
|
(HPO:0000632)
|
Lacrimation abnormality |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
9
|
(HPO:0000670)
|
Carious teeth |
Very frequent [Orphanet]
|
|
|
|
145 / 7739
|
10
|
(HPO:0000679)
|
Taurodontia |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
11
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
12
|
(HPO:0000691)
|
Microdontia |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
13
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
14
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
15
|
(HPO:0009380)
|
Aplasia of the fingers |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
16
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
17
|
(HPO:0002208)
|
Coarse hair |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
18
|
(HPO:0002213)
|
Fine hair |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
19
|
(HPO:0002217)
|
Slow-growing hair |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
20
|
(HPO:0002665)
|
Lymphoma |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
21
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
22
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
23
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
24
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
25
|
(HPO:0001010)
|
Hypopigmentation of the skin |
Frequent [Orphanet]
|
|
|
|
46 / 7739
|
26
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
27
|
(HPO:0000356)
|
Abnormality of the outer ear |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
28
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
29
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
30
|
(HPO:0009623)
|
Proximal placement of thumb |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
31
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
32
|
(HPO:0010515)
|
Aplasia/Hypoplasia of the thymus |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
33
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
34
|
(HPO:0100783)
|
Breast aplasia |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
35
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
36
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
37
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
38
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
39
|
(HPO:0011390)
|
Morphological abnormality of the inner ear |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
40
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
41
|
(HPO:0010760)
|
Absent toe |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
42
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
43
|
(HPO:0000202)
|
Oral cleft |
Frequent [Orphanet]
|
|
|
|
120 / 7739
|
44
|
(HPO:0004452)
|
Abnormality of the middle ear ossicles |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
45
|
(HPO:0000795)
|
Abnormality of the urethra |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
46
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
47
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
48
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
49
|
(HPO:0040075)
|
Hypopituitarism |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
50
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
51
|
(HPO:0000015)
|
Bladder diverticulum |
|
|
|
|
15 / 7739
|
52
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
53
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
54
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
|
|
56 / 7739
|
55
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
56
|
(HPO:0000070)
|
Ureterocele |
|
|
|
|
5 / 7739
|
57
|
(HPO:0000081)
|
Duplicated collecting system |
|
|
|
|
16 / 7739
|
58
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
59
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
60
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
61
|
(HPO:0000143)
|
Rectovaginal fistula |
|
|
|
|
18 / 7739
|
62
|
(HPO:0000145)
|
Transverse vaginal septum |
|
|
|
|
4 / 7739
|
63
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
64
|
(HPO:0000198)
|
Absence of Stensen duct |
|
|
|
|
4 / 7739
|
65
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
66
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
67
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
68
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
69
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
70
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
71
|
(HPO:0000437)
|
Depressed nasal tip |
|
|
|
|
17 / 7739
|
72
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
73
|
(HPO:0000498)
|
Blepharitis |
|
|
|
|
27 / 7739
|
74
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
75
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
76
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
77
|
(HPO:0000620)
|
Dacryocystitis |
|
|
|
|
4 / 7739
|
78
|
(HPO:0000635)
|
Blue irides |
|
|
|
|
25 / 7739
|
79
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
80
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
81
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
82
|
(HPO:0000863)
|
Central diabetes insipidus |
|
|
|
|
7 / 7739
|
83
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
84
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
85
|
(HPO:0001161)
|
Hand polydactyly |
|
|
|
|
71 / 7739
|
86
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
87
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
88
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
89
|
(HPO:0001592)
|
Selective tooth agenesis |
|
|
|
|
16 / 7739
|
90
|
(HPO:0001739)
|
Abnormality of the nasopharynx |
|
|
|
|
16 / 7739
|
91
|
(HPO:0001803)
|
Nail pits |
|
|
|
|
17 / 7739
|
92
|
(HPO:0001839)
|
Split foot |
|
|
|
|
28 / 7739
|
93
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
94
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
95
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
96
|
(HPO:0002215)
|
Sparse axillary hair |
|
|
|
|
21 / 7739
|
97
|
(HPO:0002225)
|
Sparse pubic hair |
|
|
|
|
76 / 7739
|
98
|
(HPO:0002286)
|
Fair hair |
|
|
|
|
20 / 7739
|
99
|
(HPO:0002507)
|
Semilobar holoprosencephaly |
|
|
|
|
6 / 7739
|
100
|
(HPO:0007513)
|
Generalized hypopigmentation |
|
|
|
|
12 / 7739
|
101
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|