Heart Failure, Diastolic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
55
|
9
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mitral Valve Insufficiency
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
94
|
11
|
0.100 |
None |
|
0 |
|
|
|
Sprengel deformity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
29
|
4
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathy, Hypertrophic, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
83
|
355
|
0.100 |
None |
|
0 |
1
|
|
|
Hirschsprung Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
384
|
162
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Complement Factor H Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
Disease or Syndrome
|
5
|
9
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Congenital kyphosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
54
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
272
|
36
|
0.100 |
None |
|
0 |
|
|
|
Brachyturricephaly
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
9
|
2
|
0.100 |
None |
|
0 |
|
|
|
Congenital Dysplasia Of The Hip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
147
|
27
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
11
|
0.780 |
None |
1.000 |
12 |
11
|
2008 |
2018 |
Muscular Dystrophy, Emery-Dreifuss
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
44
|
18
|
0.400 |
strong |
0.900 |
10 |
|
2009 |
2016 |
Scapuloperoneal myopathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
1
|
0.350 |
None |
1.000 |
6 |
1
|
2008 |
2015 |
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
30
|
12
|
0.710 |
None |
1.000 |
4 |
1
|
2008 |
2018 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.030 |
None |
1.000 |
3 |
|
2011 |
2013 |
Eichsfeld type congenital muscular dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
24
|
0.030 |
None |
1.000 |
3 |
|
2008 |
2015 |
Muscular Dystrophy, Duchenne
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
375
|
170
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Muscular Dystrophy, Facioscapulohumeral
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
143
|
3
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Distal Muscular Dystrophies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
31
|
18
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.100 |
None |
|
0 |
|
|
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
33
|
0.300 |
None |
|
0 |
|
|
|
Myopathy, Reducing Body, X-Linked, Childhood-Onset
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Emery-Dreifuss Muscular Dystrophy 6, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.400 |
limited |
|
0 |
2
|
|
|