1
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
2
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
3
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
4
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
5
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
6
|
(HPO:0000897)
|
Rachitic rosary |
|
|
|
|
5 / 7739
|
7
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
8
|
(HPO:0001024)
|
Skin dimple over apex of long bone angulation |
|
|
|
|
3 / 7739
|
9
|
(HPO:0001250)
|
Seizures |
|
|
24276437
|
IBIS
|
1245 / 7739
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
30508915
|
IBIS
|
990 / 7739
|
11
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
12
|
(HPO:0001363)
|
Craniosynostosis |
|
|
24276437
|
IBIS
|
132 / 7739
|
13
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
14
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
15
|
(HPO:0001608)
|
Abnormality of the voice |
|
|
|
|
126 / 7739
|
16
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
17
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
18
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
19
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
20
|
(HPO:0002039)
|
Anorexia |
|
|
|
|
62 / 7739
|
21
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
22
|
(HPO:0002150)
|
Hypercalciuria |
|
|
30508915
|
IBIS
|
45 / 7739
|
23
|
(HPO:0002170)
|
Intracranial hemorrhage |
|
|
|
|
40 / 7739
|
24
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
25
|
(HPO:0002659)
|
Increased susceptibility to fractures |
|
|
|
|
110 / 7739
|
26
|
(HPO:0002979)
|
Bowing of the legs |
|
|
30508915
|
IBIS
|
28 / 7739
|
27
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
28
|
(HPO:0003021)
|
Metaphyseal cupping |
|
|
|
|
16 / 7739
|
29
|
(HPO:0003072)
|
Hypercalcemia |
|
|
|
|
36 / 7739
|
30
|
(HPO:0003239)
|
Phosphoethanolaminuria |
|
|
3174660
|
IBIS
|
3 / 7739
|
31
|
(HPO:0003491)
|
Elevated urine pyrophosphate |
|
|
|
|
2 / 7739
|
32
|
(HPO:0004492)
|
Widely patent fontanelles and sutures |
|
|
|
|
11 / 7739
|
33
|
(HPO:0004606)
|
Unossified vertebral bodies |
|
|
|
|
4 / 7739
|
34
|
(HPO:0004331)
|
Decreased skull ossification |
|
|
|
|
31 / 7739
|
35
|
(HPO:0005474)
|
Decreased calvarial ossification |
|
|
25731960; 30508915
|
IBIS
|
8 / 7739
|
36
|
(HPO:0006385)
|
Short lower limbs |
|
|
30508915
|
IBIS
|
8 / 7739
|
37
|
(HPO:0008428)
|
Vertebral clefting |
|
|
|
|
4 / 7739
|
38
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
39
|
(HPO:0011864)
|
Elevated plasma pyrophosphate |
|
|
|
|
2 / 7739
|
40
|
(MedDRA:10039117)
|
Rib fracture |
|
|
|
|
2 / 7739
|
41
|
(HPO:0010537)
|
Wide cranial sutures |
|
|
|
|
21 / 7739
|
42
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
30508915
|
IBIS
|
482 / 7739
|
43
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
44
|
(HPO:0001522)
|
Death in infancy |
|
|
25731960; 3174660
|
IBIS
|
275 / 7739
|
45
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|
46
|
(HPO:0000239)
|
Large fontanelles |
|
|
25731960; 30508915
|
IBIS
|
135 / 7739
|
47
|
(HPO:0009826)
|
Limb undergrowth |
|
|
25731960; 24276437
|
IBIS
|
8 / 7739
|
48
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
25731960
|
IBIS
|
64 / 7739
|
49
|
(HPO:0002098)
|
Respiratory distress |
|
|
25731960
|
IBIS
|
75 / 7739
|
50
|
(HPO:0002757)
|
Recurrent fractures |
|
|
24276437
|
IBIS
|
47 / 7739
|
51
|
(HPO:0002878)
|
Respiratory failure |
|
|
24276437
|
IBIS
|
57 / 7739
|
52
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
24276437
|
IBIS
|
55 / 7739
|
53
|
(HPO:0004322)
|
Short stature |
|
|
24276437
|
IBIS
|
1232 / 7739
|
54
|
(HPO:0001531)
|
Failure to thrive in infancy |
|
|
24276437
|
IBIS
|
26 / 7739
|
55
|
(HPO:0006323)
|
Premature loss of primary teeth |
|
|
24276437
|
IBIS
|
18 / 7739
|
56
|
(HPO:0001249)
|
Intellectual disability |
|
|
24276437
|
IBIS
|
1089 / 7739
|
57
|
(HPO:0000365)
|
Hearing impairment |
|
|
24276437
|
IBIS
|
539 / 7739
|
58
|
(HPO:0011314)
|
Abnormality of long bone morphology |
|
|
24276437
|
IBIS
|
3 / 7739
|
59
|
(HPO:0003015)
|
Flared metaphysis |
|
|
24276437
|
IBIS
|
44 / 7739
|
60
|
(HPO:0000774)
|
Narrow chest |
|
|
24276437
|
IBIS
|
167 / 7739
|
61
|
(HPO:0003282)
|
Low alkaline phosphatase |
|
|
24276437; 30508915
|
IBIS
|
7 / 7739
|
62
|
(HPO:0003026)
|
Short long bone |
|
|
30508915
|
IBIS
|
51 / 7739
|
63
|
(HPO:0004349)
|
Reduced bone mineral density |
|
|
3174660; 30508915
|
IBIS
|
165 / 7739
|
64
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
30508915
|
IBIS
|
410 / 7739
|
65
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
30508915
|
IBIS
|
51 / 7739
|
66
|
(HPO:0005792)
|
Short humerus |
|
|
30508915
|
IBIS
|
34 / 7739
|
67
|
(HPO:0003865)
|
Bowed humerus |
|
|
30508915
|
IBIS
|
5 / 7739
|
68
|
(HPO:0000470)
|
Short neck |
|
|
30508915
|
IBIS
|
345 / 7739
|
69
|
(HPO:0001388)
|
Joint laxity |
|
|
30508915
|
IBIS
|
117 / 7739
|
70
|
(HPO:0030148)
|
Heart murmur |
|
|
30508915
|
IBIS
|
29 / 7739
|
71
|
(HPO:0000034)
|
Hydrocele testis |
|
|
30508915
|
IBIS
|
18 / 7739
|
72
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
30508915
|
IBIS
|
79 / 7739
|
73
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
30508915
|
IBIS
|
80 / 7739
|
74
|
(HPO:0000772)
|
Abnormality of the ribs |
|
|
30508915
|
IBIS
|
146 / 7739
|
75
|
(HPO:0008250)
|
Infantile hypercalcemia |
|
|
30508915
|
IBIS
|
3 / 7739
|
76
|
(MedDRA:10058610)
|
Urine calcium/creatinine ratio increased |
|
|
30508915
|
IBIS
|
1 / 7739
|
77
|
(HPO:0003811)
|
Neonatal death |
|
|
30508915
|
IBIS
|
44 / 7739
|
78
|
(HPO:0010683)
|
Low tissue non-specific alkaline phosphatase |
|
|
3174660
|
IBIS
|
1 / 7739
|