Foot Deformities
group
Musculoskeletal Diseases
Anatomical Abnormality
66
5
0.100
None
0
2
Abnormality of the dorsal column of the spinal cord
phenotype
Anatomical Abnormality
2
0.100
None
0
Congenital clubfoot
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
285
44
0.100
None
0
2
Hypoplasia of corpus callosum
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
385
49
0.100
None
0
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
disease
Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
4
19
0.780
None
1.000
18
19
2007
2019
Leukoencephalopathy
group
Nervous System Diseases
Disease or Syndrome
189
17
0.200
None
1.000
11
2011
2018
spinal cord involvement
disease
Disease or Syndrome
9
0.100
None
0.900
10
2010
2019
Cerebellar Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
441
120
0.010
None
1.000
1
2013
2013
Diabetes Mellitus, Non-Insulin-Dependent
disease
Nutritional and Metabolic Diseases; Endocrine System Diseases
Disease or Syndrome
3134
2672
0.100
None
1.000
1
1
2007
2007
Leukodystrophy
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
190
27
0.010
None
1.000
1
2017
2017
Multiple Sclerosis
disease
Immune System Diseases; Nervous System Diseases
Disease or Syndrome
1800
1022
0.010
None
1.000
1
2010
2010
nervous system disorder
group
Nervous System Diseases
Disease or Syndrome
977
39
0.010
None
1.000
1
2015
2015
Respiratory Tract Infections
group
Infections; Respiratory Tract Diseases
Disease or Syndrome
187
10
0.010
None
1.000
1
2015
2015
Tuberculosis
disease
Infections
Disease or Syndrome
1256
328
0.010
None
1.000
1
2018
2018
Alpers Syndrome (disorder)
disease
Immune System Diseases; Nervous System Diseases
Disease or Syndrome
28
128
0.010
None
1.000
1
2012
2012
Progressive cerebellar ataxia
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
136
23
0.110
None
1.000
1
2012
2012
Neurodegenerative Disorders
group
Nervous System Diseases
Disease or Syndrome
1515
85
0.010
None
1.000
1
2018
2018
Mitochondrial Respiratory Chain Deficiencies
disease
Nutritional and Metabolic Diseases
Disease or Syndrome
49
3
0.010
None
1.000
1
2017
2017
Episodic Ataxia
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
36
9
0.010
None
1.000
1
2011
2011
Trichohepatoenteric Syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
Disease or Syndrome
424
28
0.010
None
1.000
1
2011
2011
Multiple Chronic Conditions
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
929
42
0.010
None
1.000
1
2019
2019
Mitochondrial cardiomyopathy
disease
Disease or Syndrome
23
7
0.010
None
1.000
1
2016
2016
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
disease
Disease or Syndrome
2
10
0.010
None
1.000
1
2013
2013
Blepharoptosis
disease
Eye Diseases
Disease or Syndrome
595
57
0.100
None
0
×
CUI:
C0018099
Disease:
Gout
Gout
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
Disease or Syndrome
205
2354
0.100
None
0
2