Severe global developmental delay
|
phenotype |
|
Finding
|
130
|
50
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Disorder of the optic nerve
|
group |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
112
|
2
|
0.100 |
None |
|
0 |
|
|
|
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.100 |
None |
|
0 |
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Nerve Degeneration
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
165
|
17
|
0.100 |
None |
|
0 |
|
|
|
Decreased activity of mitochondrial complex I
|
phenotype |
|
Finding
|
41
|
3
|
0.100 |
None |
|
0 |
|
|
|
Dysautonomia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
148
|
18
|
0.100 |
None |
|
0 |
|
|
|
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Osteosarcoma of bone
|
disease |
Neoplasms
|
Neoplastic Process
|
2247
|
151
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Childhood Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2208
|
151
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2283
|
178
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Complications of Diabetes Mellitus
|
group |
Endocrine System Diseases
|
Disease or Syndrome
|
240
|
35
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Myocardial Reperfusion Injury
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Pathologic Function
|
226
|
|
0.200 |
None |
1.000 |
1 |
|
2008 |
2008 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Neural Tube Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
304
|
122
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Status Dysraphicus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
12
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Reperfusion Injury
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Injury or Poisoning
|
300
|
|
0.200 |
None |
1.000 |
1 |
|
2009 |
2009 |
Spina Bifida
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
179
|
61
|
0.310 |
None |
1.000 |
1 |
|
2009 |
2009 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.010 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Rachischisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Diabetes Mellitus, Experimental
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Experimental Model of Disease
|
522
|
|
0.200 |
None |
1.000 |
2 |
|
2004 |
2010 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |