NADH cytochrome B5 reductase deficiency
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
7
|
45
|
0.710 |
None |
1.000 |
13 |
11
|
1991 |
2018 |
Methemoglobinemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
12
|
3
|
0.700 |
strong |
1.000 |
12 |
2
|
1979 |
2008 |
Congenital Methemoglobinemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
6
|
8
|
0.500 |
None |
1.000 |
22 |
4
|
1980 |
2011 |
Methemoglobinemia, Type I
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
8
|
0.470 |
None |
1.000 |
7 |
8
|
1991 |
2011 |
Methemoglobinemia, Type Ii
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
10
|
0.440 |
None |
1.000 |
4 |
10
|
1994 |
2011 |
Cyanosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
54
|
2
|
0.430 |
None |
1.000 |
4 |
|
2005 |
2011 |
Nadh-Cytochrome B5 Reductase Deficiency, Type I
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Nadh-Cytochrome B5 Reductase Deficiency, Type Ii
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.120 |
None |
1.000 |
2 |
|
1987 |
2018 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
|
2012 |
2012 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
656
|
1178
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
disease |
|
Finding
|
578
|
1158
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Blue sclera
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
70
|
13
|
0.100 |
None |
|
0 |
|
|
|
Opisthotonus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
32
|
2
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Dyspnea on exertion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
102
|
3
|
0.100 |
None |
|
0 |
|
|
|
Lip discoloration
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Small for gestational age (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
181
|
34
|
0.100 |
None |
|
0 |
|
|
|
Dystonia, Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
42
|
9
|
0.100 |
None |
|
0 |
|
|
|
Global brain atrophy
|
phenotype |
|
Pathologic Function
|
41
|
6
|
0.100 |
None |
|
0 |
|
|
|
Spastic Quadriplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
86
|
7
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Small for gestational age fetus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
156
|
|
0.100 |
None |
|
0 |
|
|
|
Nail abnormality
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|