PERRAULT SYNDROME 2
|
disease |
|
Disease or Syndrome
|
2
|
7
|
0.700 |
limited |
1.000 |
4 |
7
|
2011 |
2020 |
Gonadal dysgenesis XX type deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
14
|
11
|
0.350 |
None |
1.000 |
5 |
3
|
2011 |
2020 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.130 |
None |
1.000 |
3 |
|
2011 |
2020 |
Amenorrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
37
|
2
|
0.100 |
None |
|
0 |
|
|
|
Myositis
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
254
|
43
|
0.060 |
None |
1.000 |
6 |
|
1989 |
2014 |
Idiopathic Inflammatory Myopathies
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
106
|
4
|
0.030 |
None |
1.000 |
3 |
|
1997 |
2020 |
Lung Diseases, Interstitial
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
144
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2018 |
Premature Menopause
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
299
|
90
|
0.020 |
None |
1.000 |
2 |
|
2020 |
2020 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2007 |
USHER SYNDROME, TYPE IIIB
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.010 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Glioblastoma Multiforme
|
disease |
Neoplasms
|
Neoplastic Process
|
3197
|
186
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Peripheral axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
94
|
12
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.010 |
None |
1.000 |
1 |
1
|
2020 |
2020 |
Ovarian dysgenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
6
|
2
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Antisynthetase syndrome
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Polymyositis
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
183
|
22
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Rheumatoid Arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
2723
|
2387
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.010 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3177
|
281
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Peripheral Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
351
|
81
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Rheumatic Fever
|
disease |
Infections; Musculoskeletal Diseases
|
Disease or Syndrome
|
94
|
5
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Ovarian Failure, Premature
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
333
|
115
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |