Mitochondrial DNA mutation
|
disease |
|
Congenital Abnormality
|
25
|
7
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
RHYNS syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3
|
|
0.050 |
None |
1.000 |
5 |
|
1997 |
2017 |
Optic Atrophy, Hereditary, Leber
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
100
|
46
|
0.020 |
None |
1.000 |
2 |
|
1997 |
2008 |
MELAS Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
80
|
53
|
0.030 |
None |
0.667 |
3 |
|
1998 |
2012 |
Neuropathy ataxia and retinis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
2
|
0.060 |
None |
1.000 |
6 |
|
1999 |
2019 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Maternally Inherited Leigh Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
12
|
1
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2019 |
Autosomal Dominant Neurohypophyseal Diabetes Insipidus
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
5
|
1
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2005 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Malignant neoplasm of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2667
|
277
|
0.060 |
None |
1.000 |
6 |
|
2003 |
2013 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Endometriosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1188
|
274
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.050 |
None |
1.000 |
5 |
|
2006 |
2019 |
Central Diabetes Insipidus
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
105
|
21
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2006 |
Pancreatic carcinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2689
|
322
|
0.040 |
None |
1.000 |
4 |
|
2007 |
2013 |
Pancreatic Neoplasm
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
764
|
20
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2013 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Malignant Glioma
|
disease |
Neoplasms
|
Neoplastic Process
|
724
|
22
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
216
|
49
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Polycystic Kidney Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
276
|
54
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Polycystic Kidney - body part
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
54
|
1
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Withdrawal Symptoms
|
phenotype |
Chemically-Induced Disorders; Mental Disorders
|
Sign or Symptom
|
126
|
10
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Substance Withdrawal Syndrome
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
80
|
5
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |