Myotonic Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
155
|
4
|
0.100 |
None |
1.000 |
10 |
|
1997 |
2003 |
Branchio-Oto-Renal Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
14
|
|
0.530 |
disputed |
1.000 |
8 |
|
2000 |
2014 |
MYOTONIC DYSTROPHY 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
179
|
14
|
0.040 |
None |
1.000 |
4 |
|
1997 |
2002 |
Bronchiolitis Obliterans
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
93
|
5
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2018 |
Congenital Myotonic Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2010 |
Branchiootorenal Syndrome 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
4
|
4
|
0.700 |
None |
1.000 |
2 |
4
|
1999 |
2007 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
13
|
0.300 |
moderate |
1.000 |
1 |
|
1999 |
1999 |
Hyperandrogenism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
108
|
24
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Bilateral cataracts (disorder)
|
disease |
Eye Diseases
|
Disease or Syndrome
|
166
|
37
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2542
|
757
|
0.010 |
None |
< 0.001 |
1 |
|
2000 |
2000 |
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Branchioma
|
disease |
Neoplasms
|
Congenital Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.100 |
None |
|
0 |
|
|
|
Facial paralysis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
182
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hydronephrosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
253
|
18
|
0.100 |
None |
|
0 |
|
|
|
Vesico-Ureteral Reflux
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
187
|
23
|
0.100 |
None |
|
0 |
|
|
|
Renal Cell Dysplasia
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
81
|
3
|
0.100 |
None |
|
0 |
|
|
|
Branchio-Oculo-Facial Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
9
|
16
|
0.300 |
None |
|
0 |
|
|
|
Stenosis of external auditory canal
|
disease |
|
Disease or Syndrome
|
25
|
4
|
0.100 |
None |
|
0 |
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the outer ear
|
disease |
|
Anatomical Abnormality
|
95
|
8
|
0.100 |
None |
|
0 |
|
|
|
Atresia of the external auditory canal
|
disease |
|
Anatomical Abnormality
|
44
|
3
|
0.100 |
None |
|
0 |
|
|
|
Retrognathia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Anatomical Abnormality
|
191
|
11
|
0.100 |
None |
|
0 |
|
|
|
Renal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
95
|
3
|
0.100 |
None |
|
0 |
|
|
|