Biotin deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2019 |
Biotin deficiency disease
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.300 |
None |
1.000 |
2 |
|
2017 |
2018 |
Chronic diarrhea
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
62
|
9
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Fasting blood glucose measurement
|
phenotype |
|
Laboratory Procedure
|
96
|
212
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2542
|
757
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Malignant neoplasm of ovary
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2563
|
315
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Hormone refractory prostate cancer
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
683
|
29
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Childhood Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
1740
|
140
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abnormal corpus callosum morphology
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
70
|
10
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abnormal immunoglobulin level
|
phenotype |
|
Finding
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Benign Mastocytoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
26
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abnormality of metabolism/homeostasis
|
phenotype |
|
Finding
|
171
|
5
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mast Cell Neoplasm
|
disease |
Neoplasms
|
Neoplastic Process
|
33
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Arthritis, Gouty
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
206
|
2356
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Choriocarcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
431
|
2
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Gastrointestinal Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Pathologic Function
|
122
|
24
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |