COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
|
disease |
|
Disease or Syndrome
|
1
|
11
|
0.700 |
None |
1.000 |
6 |
11
|
2012 |
2019 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.040 |
None |
1.000 |
4 |
|
2006 |
2013 |
DEAFNESS, AUTOSOMAL RECESSIVE 70
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.600 |
None |
1.000 |
4 |
1
|
2012 |
2019 |
Adenocarcinoma of prostate
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
342
|
108
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Chronic Obstructive Airway Disease
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
1428
|
852
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2509
|
386
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Pancreatic carcinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2689
|
322
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Adenocarcinoma of colon
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
406
|
10
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Malignant neoplasm of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2667
|
277
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.300 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Central neuroblastoma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
2419
|
231
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Oxidative Phosphorylation Deficiencies
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
18
|
1
|
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 |
|
2012 |
2012 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
38
|
4
|
0.300 |
limited |
1.000 |
1 |
|
2012 |
2012 |
Congenital sensorineural hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
68
|
17
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.010 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Childhood Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2420
|
231
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Dyskinetic syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
316
|
42
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Hip Contracture
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
190
|
27
|
0.100 |
None |
|
0 |
|
|
|