Hypertrichosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
92
|
27
|
0.100 |
None |
|
0 |
|
|
|
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.100 |
None |
|
0 |
|
|
|
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.100 |
None |
|
0 |
|
|
|
Increased CSF lactate
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|
Increased serum pyruvate
|
phenotype |
|
Finding
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Invasive carcinoma of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
473
|
21
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Invasive Ductal Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
414
|
16
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Kyphoscoliosis deformity of spine
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
155
|
17
|
0.100 |
None |
|
0 |
|
|
|
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.640 |
moderate |
1.000 |
13 |
2
|
1998 |
2018 |
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
8
|
0.500 |
moderate |
1.000 |
10 |
|
1998 |
2018 |
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
moderate |
1.000 |
10 |
|
1998 |
2018 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
1
|
0.300 |
moderate |
1.000 |
10 |
|
1998 |
2018 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
37
|
12
|
0.300 |
moderate |
1.000 |
10 |
|
1998 |
2018 |
Leigh Syndrome due to Mitochondrial Complex V Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
moderate |
1.000 |
10 |
|
1998 |
2018 |
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
160
|
6
|
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 |
|
|
|
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.100 |
None |
|
0 |
|
|
|
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.310 |
None |
1.000 |
2 |
|
2011 |
2013 |
Mammary Carcinoma, Human
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
545
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Mammary Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
2780
|
385
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Mammary Neoplasms, Human
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
527
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Metabolic Syndrome X
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1125
|
591
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Mild cognitive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
430
|
96
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |