NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.600 |
strong |
1.000 |
3 |
4
|
2017 |
2019 |
Glaucomatous retinal degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Aneurysm, Mycotic
|
disease |
Infections; Cardiovascular Diseases
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Otitis media in children
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Protanomaly
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
1
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Mild short stature
|
phenotype |
|
Finding
|
25
|
8
|
0.100 |
None |
|
0 |
|
|
|
POLYCYSTIC KIDNEY DISEASE 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
39
|
134
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Autoimmune pancreatitis
|
disease |
Digestive System Diseases; Immune System Diseases
|
Disease or Syndrome
|
49
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Pointed chin
|
phenotype |
|
Finding
|
71
|
13
|
0.100 |
None |
|
0 |
|
|
|
Delayed ability to walk
|
phenotype |
|
Finding
|
77
|
|
0.100 |
None |
|
0 |
|
|
|
Immunoglobulin G4-Related Disease
|
disease |
Immune System Diseases
|
Disease or Syndrome
|
80
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Diverticular Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
83
|
88
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Acute interstitial pneumonia
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
88
|
8
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Body Fat Distribution
|
phenotype |
|
Finding
|
90
|
119
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Tapering fingers (finding)
|
phenotype |
|
Finding
|
91
|
19
|
0.100 |
None |
|
0 |
|
|
|
Streptococcal pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
100
|
2
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Mastitis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
103
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Low Tension Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
103
|
56
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Acute intermittent porphyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
103
|
68
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Bullous pemphigoid
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
127
|
11
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Lobar Pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
140
|
2
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Infectious Otitis Media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
146
|
6
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
|
phenotype |
|
Finding
|
165
|
368
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
|
disease |
|
Finding
|
166
|
374
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
|
disease |
|
Finding
|
166
|
370
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |