Mitochondrial DNA Depletion Syndrome 1
|
disease |
|
Disease or Syndrome
|
4
|
78
|
0.100 |
None |
1.000 |
11 |
50
|
1999 |
2011 |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
6
|
8
|
0.700 |
None |
1.000 |
13 |
8
|
1999 |
2016 |
MYOPIA 6 (disorder)
|
disease |
Eye Diseases
|
Disease or Syndrome
|
3
|
6
|
0.700 |
strong |
1.000 |
4 |
6
|
2013 |
2016 |
Corpuscular Hemoglobin Concentration Mean
|
phenotype |
|
Laboratory or Test Result
|
401
|
4389
|
0.100 |
None |
1.000 |
1 |
3
|
2012 |
2012 |
Red Blood Cell Count measurement
|
phenotype |
|
Laboratory Procedure
|
717
|
1599
|
0.100 |
None |
1.000 |
1 |
3
|
2009 |
2009 |
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.540 |
definitive |
0.917 |
12 |
2
|
1999 |
2016 |
RDW - Red blood cell distribution width result
|
phenotype |
|
Laboratory or Test Result
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
2
|
2019 |
2019 |
Red cell distribution width determination
|
phenotype |
|
Laboratory Procedure
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
2
|
2019 |
2019 |
Peripheral Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
351
|
81
|
0.010 |
None |
1.000 |
1 |
2
|
2009 |
2009 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.932 |
73 |
1
|
1995 |
2018 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.100 |
None |
1.000 |
27 |
1
|
1996 |
2019 |
Malignant neoplasm of colon and/or rectum
|
disease |
|
Neoplastic Process
|
3669
|
502
|
0.100 |
None |
1.000 |
15 |
1
|
1999 |
2019 |
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
disease |
|
Disease or Syndrome
|
4
|
2
|
0.090 |
None |
1.000 |
9 |
1
|
2001 |
2019 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.380 |
None |
1.000 |
8 |
1
|
2001 |
2015 |
Malignant neoplasm of gastrointestinal tract
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
423
|
55
|
0.040 |
None |
1.000 |
4 |
1
|
2004 |
2015 |
Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
484
|
110
|
0.010 |
None |
1.000 |
1 |
1
|
2001 |
2001 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.100 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Stridor
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
31
|
7
|
0.010 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Severe global developmental delay
|
phenotype |
|
Finding
|
130
|
50
|
0.100 |
None |
|
0 |
1
|
|
|
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
1.000 |
28 |
|
1994 |
2019 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.100 |
None |
1.000 |
26 |
|
1994 |
2019 |
Cytochrome-c Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
65
|
44
|
0.600 |
None |
1.000 |
25 |
|
1999 |
2019 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.100 |
None |
0.952 |
21 |
|
1996 |
2019 |