|
#
|
Concept name
|
Type
|
Relation
|
Support
|
Score
|
|
1
|
Congenital contractures
|
Other
|
Known
|
Explain
|
125.23973
|
|
2
|
Apraxias
|
Disease
|
Known
|
Explain
|
69.53048
|
|
3
|
Oculovestibuloauditory syndrome
|
Disease
|
Known
|
Explain
|
55.62838
|
|
4
|
Contracture
|
Other
|
Known
|
Explain
|
52.74336
|
|
5
|
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
|
Disease
|
Inferred
|
Explain
|
35.45027
|
|
6
|
Foot
|
Other
|
Known
|
Explain
|
22.72696
|
|
7
|
Muscular Atrophy
|
Disease
|
Known
|
Explain
|
20.88846
|
|
8
|
Gait Apraxia
|
Disease
|
Inferred
|
Explain
|
6.99952
|
|
9
|
Psychomotor Disorders
|
Disease
|
Inferred
|
Explain
|
4.50410
|
|
10
|
Alzheimer disease, familial, type 3
|
Disease
|
Inferred
|
Explain
|
3.84990
|
|
11
|
Gait Disorders, Neurologic
|
Disease
|
Inferred
|
Explain
|
2.59805
|
|
12
|
Volkmann Contracture
|
Disease
|
Inferred
|
Explain
|
1.98577
|
|
13
|
CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA
|
Disease
|
Inferred
|
Explain
|
1.90641
|
|
14
|
Neurobehavioral Manifestations
|
Disease
|
Inferred
|
Explain
|
1.82732
|
|
15
|
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE
|
Disease
|
Inferred
|
Explain
|
1.74930
|
|
16
|
Dupuytren Contracture
|
Disease
|
Inferred
|
Explain
|
1.55638
|
|
17
|
Bethlem myopathy
|
Disease
|
Inferred
|
Explain
|
1.53055
|
|
18
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
Disease
|
Inferred
|
Explain
|
1.40945
|
|
19
|
Arthrogryposis, distal, type 2E
|
Disease
|
Inferred
|
Explain
|
1.32878
|
|
20
|
FOXP2 gene
|
Gene
|
Inferred
|
Explain
|
1.06727
|
|
21
|
ADAMTSL2 gene
|
Gene
|
Inferred
|
Explain
|
0.77381
|
|
22
|
Vestibulocochlear Nerve Diseases
|
Disease
|
Inferred
|
Explain
|
0.73829
|
|
23
|
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
|
Disease
|
Inferred
|
Explain
|
0.66356
|
|
24
|
Compartment syndromes
|
Disease
|
Inferred
|
Explain
|
0.66273
|
|
25
|
Arthropathy
|
Disease
|
Inferred
|
Explain
|
0.55906
|
|
26
|
Gait Ataxia
|
Disease
|
Inferred
|
Explain
|
0.52135
|
|
27
|
X-linked inheritance
|
Function
|
Inferred
|
Explain
|
0.43233
|
|
28
|
Vasculitis
|
Disease
|
Inferred
|
Explain
|
0.37023
|
|
29
|
Mental Retardation
|
Disease
|
Inferred
|
Explain
|
0.35843
|
|
30
|
Torticollis
|
Disease
|
Inferred
|
Explain
|
0.31876
|
|
31
|
Hand
|
Other
|
Inferred
|
Explain
|
0.31403
|
|
32
|
Myopathy
|
Disease
|
Inferred
|
Explain
|
0.24589
|
|
33
|
Russell-Silver syndrome
|
Disease
|
Inferred
|
Explain
|
0.24484
|
|
34
|
Spinal Muscular Atrophy
|
Disease
|
Inferred
|
Explain
|
0.23219
|
|
35
|
Malignant hyperpyrexia due to anesthesia
|
Disease
|
Inferred
|
Explain
|
0.21729
|
|
36
|
EIKEN SKELETAL DYSPLASIA
|
Disease
|
Inferred
|
Explain
|
0.19975
|
|
37
|
Disorder of eye
|
Disease
|
Inferred
|
Explain
|
0.19582
|
|
38
|
Cockayne-Touraine Disease
|
Disease
|
Inferred
|
Explain
|
0.18596
|
|
39
|
SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET
|
Disease
|
Inferred
|
Explain
|
0.18446
|
|
40
|
Acrokeratoelastoidosis of Costa
|
Disease
|
Inferred
|
Explain
|
0.18417
|
|
41
|
Forefoot, Human
|
Other
|
Inferred
|
Explain
|
0.17494
|
|
42
|
Lower Extremity
|
Other
|
Inferred
|
Explain
|
0.17420
|
|
43
|
ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR
|
Disease
|
Inferred
|
Explain
|
0.17239
|
|
44
|
Ulnar hypoplasia lobster claw deformity of feet
|
Disease
|
Inferred
|
Explain
|
0.16647
|
|
45
|
Neurologic Manifestations
|
Disease
|
Inferred
|
Explain
|
0.16357
|
|
46
|
ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND PREAXIAL POLYDACTYLY OF FEET
|
Disease
|
Inferred
|
Explain
|
0.14840
|
|
47
|
GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA
|
Disease
|
Inferred
|
Explain
|
0.14633
|
|
48
|
TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET
|
Disease
|
Inferred
|
Explain
|
0.14149
|
|
49
|
Jaw
|
Other
|
Inferred
|
Explain
|
0.12555
|
|
50
|
SPLIT-HAND/FOOT MALFORMATION WITH SENSORINEURAL HEARING LOSS
|
Disease
|
Inferred
|
Explain
|
0.12539
|
|
51
|
S 26308
|
Compound
|
Inferred
|
Explain
|
0.11724
|
|
52
|
Proteus Syndrome
|
Disease
|
Inferred
|
Explain
|
0.11122
|
|
53
|
Arthrogryposis
|
Other
|
Inferred
|
Explain
|
0.10118
|
|
54
|
Amyotrophy, monomelic
|
Disease
|
Inferred
|
Explain
|
0.09961
|
|
55
|
Retrocochlear Diseases
|
Disease
|
Inferred
|
Explain
|
0.08936
|
|
56
|
Scapuloperoneal Form of Spinal Muscular Atrophy
|
Disease
|
Inferred
|
Explain
|
0.08907
|
|
57
|
Muscular Atrophy, Spinal, Type II
|
Disease
|
Inferred
|
Explain
|
0.08804
|
|
58
|
Juvenile Spinal Muscular Atrophy
|
Disease
|
Inferred
|
Explain
|
0.08264
|
|
59
|
Ataxia
|
Disease
|
Inferred
|
Explain
|
0.07829
|
|
60
|
smooth muscle atrophy
|
Disease
|
Inferred
|
Explain
|
0.07682
|
|
61
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
Disease
|
Inferred
|
Explain
|
0.07546
|
|
62
|
Primrose syndrome
|
Disease
|
Inferred
|
Explain
|
0.07473
|
|
63
|
Muscular Dystrophy, Emery-Dreifuss
|
Disease
|
Inferred
|
Explain
|
0.07314
|
|
64
|
Toes
|
Other
|
Inferred
|
Explain
|
0.06893
|
|
65
|
Acoustic Neuroma
|
Disease
|
Inferred
|
Explain
|
0.06843
|
|
66
|
AMYOTROPHY, HEREDITARY NEURALGIC
|
Disease
|
Inferred
|
Explain
|
0.06819
|
|
67
|
Onychogryposis
|
Disease
|
Inferred
|
Explain
|
0.06761
|
|
68
|
Connective Tissue Diseases
|
Disease
|
Inferred
|
Explain
|
0.06665
|
|
69
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Disease
|
Inferred
|
Explain
|
0.06598
|
|
70
|
striated muscle atrophy
|
Disease
|
Inferred
|
Explain
|
0.06499
|
|
71
|
MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS
|
Other
|
Inferred
|
Explain
|
0.06300
|
|
72
|
ULNAR HYPOPLASIA
|
Disease
|
Inferred
|
Explain
|
0.06123
|
|
73
|
LAURIN-SANDROW SYNDROME
|
Disease
|
Inferred
|
Explain
|
0.06121
|
|
74
|
Agitation
|
Disease
|
Inferred
|
Explain
|
0.05997
|
|
75
|
Hyperkalemic periodic paralysis
|
Disease
|
Inferred
|
Explain
|
0.05949
|
|
76
|
Neuromuscular Manifestations
|
Disease
|
Inferred
|
Explain
|
0.05933
|
|
77
|
TRPV4 gene
|
Gene
|
Inferred
|
Explain
|
0.05852
|
|
78
|
Atrophic
|
Disease
|
Inferred
|
Explain
|
0.05842
|
|
79
|
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR
|
Disease
|
Inferred
|
Explain
|
0.05832
|
|
80
|
muscle adaptation
|
Function
|
Inferred
|
Explain
|
0.05430
|
|
81
|
Carpal Tunnel Syndrome
|
Disease
|
Inferred
|
Explain
|
0.05404
|
|
82
|
Knee
|
Other
|
Inferred
|
Explain
|
0.04901
|
|
83
|
COL6A2 gene
|
Gene
|
Inferred
|
Explain
|
0.04117
|
|
84
|
COL6A3 gene
|
Gene
|
Inferred
|
Explain
|
0.04002
|
|
85
|
Cranial nerve diseases
|
Disease
|
Inferred
|
Explain
|
0.03678
|
|
86
|
TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA (disorder)
|
Disease
|
Inferred
|
Explain
|
0.03577
|
|
87
|
Early-onset
|
Disease
|
Inferred
|
Explain
|
0.03566
|
|
88
|
COL6A1 gene
|
Gene
|
Inferred
|
Explain
|
0.03546
|
|
89
|
Paraparesis, Spastic
|
Disease
|
Inferred
|
Explain
|
0.03397
|
|
90
|
MYH7 gene
|
Gene
|
Inferred
|
Explain
|
0.02820
|
|
91
|
Limb structure
|
Other
|
Inferred
|
Explain
|
0.02612
|
|
92
|
Epidermolysis Bullosa Simplex
|
Disease
|
Inferred
|
Explain
|
0.02422
|
|
93
|
TBCE gene
|
Gene
|
Inferred
|
Explain
|
0.02257
|
|
94
|
EMD gene
|
Gene
|
Inferred
|
Explain
|
0.02243
|
|
95
|
AMPD1 gene
|
Gene
|
Inferred
|
Explain
|
0.02164
|
|
96
|
Keratoderma
|
Other
|
Inferred
|
Explain
|
0.02036
|
|
97
|
Ataxia as late effect of cerebrovascular disease
|
Disease
|
Inferred
|
Explain
|
0.01900
|
|
98
|
Nonprogressive
|
Disease
|
Inferred
|
Explain
|
0.01792
|
|
99
|
Entire toe
|
Other
|
Inferred
|
Explain
|
0.01753
|
|
100
|
Metaphyseal acroscyphodysplasia
|
Disease
|
Inferred
|
Explain
|
0.01740
|