LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
1
|
1
|
0.500 |
limited |
1.000 |
2 |
1
|
2006 |
2012 |
EPILEPSY, PROGRESSIVE MYOCLONIC, 9
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.700 |
limited |
1.000 |
2 |
1
|
2006 |
2015 |
Progressive loss of facial adipose tissue
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Loss of subcutaneous adipose tissue from upper limbs
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Loss of truncal subcutaneous adipose tissue
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Acquired partial lipodystrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
7
|
1
|
0.630 |
None |
1.000 |
3 |
1
|
2006 |
2012 |
Decreased serum complement C3
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Partial lipodystrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
14
|
11
|
0.030 |
None |
1.000 |
3 |
|
2006 |
2012 |
Progeroid facial appearance
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Microscopic hematuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
15
|
4
|
0.100 |
None |
|
0 |
|
|
|
Mandibuloacral dysostosis
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
17
|
16
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Atypical Inclusion-Body Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
|
0 |
|
|
|
Familial Progressive Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
|
0 |
|
|
|
Biotin-Responsive Encephalopathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
|
0 |
|
|
|
May-White Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
|
0 |
|
|
|
Microglossia
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
19
|
2
|
0.100 |
None |
|
0 |
|
|
|
Action Myoclonus-Renal Failure Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
20
|
0.300 |
None |
|
0 |
|
|
|
Familial partial lipodystrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
28
|
16
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Muscular Dystrophy, Emery-Dreifuss
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
44
|
18
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Myoclonic Epilepsies, Progressive
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
48
|
17
|
0.310 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hypoplasia of thumb
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
49
|
3
|
0.100 |
None |
|
0 |
|
|
|
Unverricht-Lundborg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
56
|
17
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Generalized amyotrophy
|
disease |
|
Disease or Syndrome
|
56
|
6
|
0.100 |
None |
|
0 |
|
|
|
Glomerulonephritis, Membranoproliferative
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
Disease or Syndrome
|
57
|
3
|
0.100 |
None |
|
0 |
|
|
|
ATRICHIA WITH PAPULAR LESIONS
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
70
|
3
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |