Congenital Generalized Lipodystrophy Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
9
|
30
|
1.000 |
None |
1.000 |
25 |
29
|
2001 |
2019 |
Spastic paraplegia 17
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
12
|
3
|
0.800 |
None |
1.000 |
21 |
3
|
2001 |
2019 |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
12
|
16
|
0.760 |
None |
1.000 |
10 |
4
|
2000 |
2019 |
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
|
disease |
|
Disease or Syndrome
|
2
|
4
|
0.720 |
None |
1.000 |
6 |
3
|
2004 |
2019 |
Familial generalized lipodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
49
|
15
|
0.700 |
strong |
0.971 |
34 |
4
|
2001 |
2019 |
Lipodystrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
226
|
28
|
0.700 |
None |
1.000 |
23 |
1
|
2002 |
2019 |
Congenital Generalized Lipodystrophy Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
25
|
0.310 |
None |
1.000 |
1 |
|
2009 |
2009 |
Mood Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
580
|
308
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Delayed Puberty
|
phenotype |
Endocrine System Diseases
|
Pathologic Function
|
196
|
21
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Oligospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
217
|
72
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Asthenozoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
164
|
17
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Insulin Resistance
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
162
|
53
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Male infertility
|
phenotype |
Male Urogenital Diseases
|
Disease or Syndrome
|
516
|
146
|
0.210 |
None |
1.000 |
1 |
|
2015 |
2015 |
Lipodystrophy, not elsewhere classified
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
|
0.200 |
None |
1.000 |
5 |
|
2011 |
2014 |
Azoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
254
|
70
|
0.200 |
None |
1.000 |
1 |
|
2015 |
2015 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.160 |
None |
1.000 |
6 |
1
|
2015 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.130 |
None |
0.667 |
3 |
|
2004 |
2009 |
Hereditary Motor and Sensory-Neuropathy Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
144
|
0.120 |
None |
1.000 |
19 |
6
|
2004 |
2016 |
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.120 |
None |
1.000 |
2 |
|
2004 |
2004 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.120 |
None |
1.000 |
2 |
|
2014 |
2019 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.120 |
None |
1.000 |
2 |
|
2002 |
2019 |
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.120 |
None |
1.000 |
2 |
1
|
2005 |
2007 |
Fatty Liver
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
875
|
35
|
0.120 |
None |
1.000 |
2 |
|
2014 |
2019 |
Pyramidal sign
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
155
|
10
|
0.110 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Lipoatrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
106
|
6
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |