COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
disease
Disease or Syndrome
1
3
0.700
None
1.000
3
3
2014
2018
Autistic Disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
1112
395
0.010
None
1.000
1
2019
2019
MERRF Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
51
13
0.010
None
1.000
1
2014
2014
Ki-1+ Anaplastic Large Cell Lymphoma
disease
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
Neoplastic Process
300
10
0.010
None
1.000
1
2002
2002
Epileptic encephalopathy
disease
Nervous System Diseases
Disease or Syndrome
187
126
0.110
None
1.000
1
2015
2015
Myoclonic Epilepsies, Progressive
disease
Nervous System Diseases
Disease or Syndrome
48
17
0.010
None
1.000
1
2014
2014
Unverricht-Lundborg Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
56
17
0.010
None
1.000
1
2014
2014
Autism Spectrum Disorders
disease
Mental Disorders
Mental or Behavioral Dysfunction
1071
331
0.010
None
1.000
1
2019
2019
Multiple Chronic Conditions
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
929
42
0.010
None
1.000
1
2019
2019
Failure to Thrive
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
842
10
0.100
None
0
Status Epilepticus
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
533
12
0.100
None
0
Cerebral atrophy
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
454
44
0.100
None
0
Cerebellar Hypoplasia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
Congenital Abnormality
226
26
0.100
None
0
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
Hydrops Fetalis, Non-Immune
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
Disease or Syndrome
51
22
0.100
None
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0
Autistic behavior
disease
Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
261
78
0.100
None
0
Developmental regression
disease
Mental Disorders
Disease or Syndrome
333
80
0.100
None
0
Generalized myoclonic seizures
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
105
8
0.100
None
0
Hypoplastic hippocampus
disease
Congenital Abnormality
7
1
0.100
None
0
Chorea
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
168
20
0.100
None
0
Dystonia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
453
97
0.100
None
0
Myoclonus
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
265
34
0.100
None
0
×
CUI:
C0030193
Disease:
Pain
Pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1554
196
0.100
None
0
Opisthotonus
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Sign or Symptom
32
2
0.100
None
0