Nephritis, Interstitial
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
24
|
|
0.300 |
strong |
|
0 |
|
|
|
Nephritis, Tubulointerstitial
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
21
|
1
|
0.300 |
strong |
|
0 |
|
|
|
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
261
|
181
|
0.400 |
None |
1.000 |
1 |
|
2003 |
2003 |
Metabolic Bone Disorder
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
14
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Liver Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
103
|
20
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
15
|
23
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
37
|
13
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
Disorders of Sex Development
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
447
|
6
|
0.450 |
None |
1.000 |
1 |
|
2000 |
2016 |
Smith-Lemli-Opitz Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
92
|
1.000 |
definitive |
0.987 |
35 |
92
|
1987 |
2018 |
Smith-Lemli-Opitz Syndrome, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
11 |
|
2001 |
2018 |
Smith-Lemli-Opitz Syndrome, Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
11 |
|
2001 |
2018 |
7-Dehydrocholesterol Reductase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
|
0.310 |
None |
1.000 |
11 |
|
2001 |
2018 |
Fibrosis, Liver
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
105
|
1
|
0.340 |
None |
1.000 |
1 |
|
2012 |
2018 |