Thiamine responsive megaloblastic anemia syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
3
|
11
|
1.000 |
None |
1.000 |
35 |
11
|
1997 |
2019 |
Thiamine-responsive megaloblastic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
|
0.500 |
limited |
1.000 |
16 |
|
1999 |
2019 |
Neonatal diabetes mellitus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
42
|
33
|
0.310 |
strong |
1.000 |
2 |
|
2007 |
2012 |
Liver Cirrhosis, Experimental
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Experimental Model of Disease
|
870
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.200 |
None |
1.000 |
10 |
1
|
1998 |
2019 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Anemia, Megaloblastic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
26
|
2
|
0.170 |
None |
1.000 |
7 |
|
2002 |
2018 |
QT interval feature (observable entity)
|
phenotype |
|
Clinical Attribute
|
75
|
226
|
0.100 |
None |
1.000 |
2 |
1
|
2014 |
2019 |
Venous Thrombosis
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
117
|
218
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Skin Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
106
|
16
|
0.100 |
None |
|
0 |
|
|
|
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
160
|
6
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Pallor
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
124
|
4
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.100 |
None |
|
0 |
|
|
|
Paroxysmal atrial tachycardia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
125
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cerebrovascular accident
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1658
|
591
|
0.100 |
None |
|
0 |
|
|
|
Aminoaciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
68
|
1
|
0.100 |
None |
|
0 |
|
|
|
Paresthesia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
121
|
8
|
0.100 |
None |
|
0 |
|
|
|
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.100 |
None |
|
0 |
|
|
|
Hoarseness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
84
|
3
|
0.100 |
None |
|
0 |
|
|
|
Anorexia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
242
|
10
|
0.100 |
None |
|
0 |
|
|
|