Abetalipoproteinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
65
|
19
|
0.100 |
None |
|
0 |
|
|
|
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
102
|
8
|
0.100 |
None |
|
0 |
|
|
|
Broad-based gait
|
phenotype |
|
Finding
|
75
|
24
|
0.100 |
None |
|
0 |
|
|
|
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
|
|
|
Schistocytosis
|
phenotype |
|
Laboratory or Test Result
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Anisopoikilocytosis
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Brain atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
182
|
46
|
0.100 |
None |
|
0 |
|
|
|
Renal tubular acidosis
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
52
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormal glycosylation
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
533
|
12
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
|
|
|
Liver Neoplasms, Experimental
|
phenotype |
Digestive System Diseases; Neoplasms
|
Neoplastic Process; Experimental Model of Disease
|
152
|
|
0.200 |
None |
1.000 |
1 |
|
1959 |
1959 |
Mammary Neoplasms, Experimental
|
phenotype |
Neoplasms
|
Neoplastic Process; Experimental Model of Disease
|
218
|
|
0.200 |
None |
1.000 |
1 |
|
1967 |
1967 |
Hyperlipidemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
472
|
83
|
0.070 |
None |
0.714 |
7 |
|
1975 |
2019 |
Hemoglobin F Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
27
|
|
0.300 |
None |
1.000 |
1 |
|
1979 |
1979 |
Thalassemia Intermedia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
53
|
8
|
0.300 |
None |
1.000 |
1 |
|
1979 |
1979 |
Acute Erythroblastic Leukemia
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
302
|
5
|
0.300 |
None |
1.000 |
1 |
|
1979 |
1979 |
Congenital hypoplastic anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
1979 |
1979 |
beta Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
198
|
103
|
0.300 |
None |
1.000 |
1 |
|
1979 |
1979 |
Thalassemia Minor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
18
|
1
|
0.300 |
None |
1.000 |
1 |
|
1979 |
1979 |
Anemia, Sickle Cell
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
434
|
138
|
0.300 |
None |
1.000 |
1 |
|
1979 |
1979 |
Cooley's anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
144
|
19
|
0.300 |
None |
1.000 |
1 |
|
1979 |
1979 |
Hereditary spherocytosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
53
|
13
|
0.300 |
None |
1.000 |
1 |
|
1979 |
1979 |