pathologic fistula
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
71
|
8
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Anorectal Malformations
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
112
|
6
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Foot Deformities
|
group |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
66
|
5
|
0.100 |
None |
|
0 |
|
|
|
Structural foot deformity
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Mitochondrial Swelling
|
phenotype |
|
Cell or Molecular Dysfunction
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
285
|
44
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Low anorectal malformation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cleft Lip with or without Cleft Palate
|
disease |
|
Congenital Abnormality
|
99
|
50
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.320 |
definitive |
1.000 |
9 |
|
2004 |
2017 |
Deafness, Autosomal Dominant 4
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
6
|
0.710 |
None |
1.000 |
5 |
6
|
2004 |
2019 |
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.710 |
None |
1.000 |
4 |
1
|
2011 |
2018 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.030 |
None |
1.000 |
3 |
|
2002 |
2017 |
Hypertrophic obstructive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
90
|
0.030 |
None |
1.000 |
3 |
|
2003 |
2019 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2008 |
Peripheral Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
351
|
81
|
0.020 |
None |
0.500 |
2 |
1
|
2011 |
2019 |
MYOPATHY, MYOSIN STORAGE (disorder)
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
15
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2017 |
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.120 |
None |
0.500 |
2 |
1
|
2011 |
2019 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.010 |
None |
< 0.001 |
1 |
|
2008 |
2008 |
Cerebrovascular accident
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1658
|
591
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Vascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
688
|
40
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Peripheral motor neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
64
|
20
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |