Progeria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
118
|
41
|
1.000 |
None |
0.967 |
213 |
34
|
2003 |
2020 |
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
1.000 |
None |
0.989 |
88 |
55
|
1999 |
2020 |
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
19
|
0.920 |
None |
1.000 |
7 |
19
|
2002 |
2017 |
Charcot-Marie-Tooth disease, Type 2B1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
3
|
6
|
0.900 |
None |
1.000 |
8 |
4
|
1999 |
2017 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
74
|
0.800 |
None |
1.000 |
63 |
74
|
1991 |
2018 |
Familial Partial Lipodystrophy, Type 2
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
16
|
23
|
0.800 |
None |
1.000 |
42 |
22
|
2000 |
2020 |
Mandibuloacral dysostosis
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
17
|
16
|
0.800 |
None |
1.000 |
23 |
13
|
2002 |
2018 |
Malouf syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
4
|
0.710 |
None |
1.000 |
5 |
4
|
2003 |
2017 |
Muscular Dystrophy, Emery-Dreifuss
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
44
|
18
|
0.700 |
None |
0.963 |
81 |
16
|
2000 |
2019 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.700 |
strong |
1.000 |
23 |
1
|
1997 |
2019 |
Lethal tight skin contracture syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
10
|
0.700 |
None |
1.000 |
5 |
4
|
2002 |
2017 |
Emery-Dreifuss Muscular Dystrophy 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
4
|
0.700 |
strong |
1.000 |
4 |
4
|
2010 |
2017 |
Heart-hand syndrome, Slovenian type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
3 |
3
|
2008 |
2017 |
Familial partial lipodystrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
28
|
16
|
0.600 |
limited |
0.978 |
89 |
12
|
2000 |
2020 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
2
|
0.530 |
None |
1.000 |
6 |
2
|
2000 |
2018 |
Congenital Fiber Type Disproportion
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
33
|
49
|
0.520 |
strong |
1.000 |
3 |
|
2012 |
2015 |
Familial Partial Lipodystrophy, Type 1
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
9
|
|
0.510 |
None |
1.000 |
7 |
|
2003 |
2009 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.500 |
None |
0.994 |
163 |
55
|
1996 |
2020 |
Atrioventricular Block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
63
|
17
|
0.460 |
None |
1.000 |
7 |
2
|
1999 |
2018 |
Polycystic Ovary Syndrome
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
988
|
363
|
0.450 |
None |
0.833 |
6 |
2
|
2008 |
2018 |
Monogenic diabetes
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
30
|
19
|
0.410 |
None |
1.000 |
17 |
2
|
1990 |
2013 |
Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
316
|
5
|
0.410 |
None |
1.000 |
2 |
1
|
2005 |
2009 |
Left ventricular noncompaction
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
35
|
26
|
0.410 |
None |
1.000 |
1 |
2
|
2004 |
2004 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.400 |
None |
0.938 |
16 |
6
|
1999 |
2016 |
Atypical Werner syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
4
|
4
|
0.400 |
None |
1.000 |
15 |
4
|
2003 |
2020 |