Contracture of tendo achilles
|
disease |
|
Anatomical Abnormality
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hip Dysplasia
|
disease |
Musculoskeletal Diseases; Wounds and Injuries
|
Anatomical Abnormality
|
128
|
16
|
0.100 |
None |
|
0 |
|
|
|
Sclerosis of finger phalanx
|
phenotype |
|
Anatomical Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
|
0 |
1
|
|
|
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.110 |
None |
1.000 |
7 |
1
|
2001 |
2017 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
186
|
20
|
0.100 |
None |
|
0 |
|
|
|
Congenital Dysplasia Of The Hip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
147
|
27
|
0.100 |
None |
|
0 |
|
|
|
NGLY1 deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
3
|
19
|
0.770 |
definitive |
1.000 |
16 |
19
|
2012 |
2020 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
6 |
1
|
2001 |
2017 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cytomegalovirus Infections
|
group |
Infections
|
Disease or Syndrome
|
462
|
26
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Gastritis, Atrophic
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
203
|
61
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Peripheral Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
351
|
81
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hypocholesterolemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
113
|
22
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
484
|
110
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
JC virus infection
|
disease |
Infections
|
Disease or Syndrome
|
18
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Multiple Chronic Conditions
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
929
|
42
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Central visual impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
158
|
1
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hyperkinesia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
80
|
6
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Anhidrosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
37
|
2
|
0.100 |
None |
|
0 |
|
|
|
Athetosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.100 |
None |
|
0 |
|
|
|