NAVAJO NEUROHEPATOPATHY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
28
|
0.760 |
None |
1.000 |
24 |
27
|
2006 |
2019 |
Depletion of mitochondrial DNA
|
disease |
|
Disease or Syndrome
|
36
|
7
|
0.100 |
None |
1.000 |
13 |
|
2006 |
2017 |
Deoxyguanosine Kinase Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
1
|
0.230 |
None |
1.000 |
9 |
|
1990 |
2017 |
Alport syndrome, recessive type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
3
|
|
0.200 |
None |
1.000 |
6 |
|
1990 |
2009 |
Alport Syndrome, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
8
|
2
|
0.200 |
None |
1.000 |
6 |
|
1990 |
2009 |
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
4
|
143
|
0.200 |
None |
1.000 |
6 |
|
1990 |
2009 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.040 |
None |
1.000 |
4 |
|
1995 |
2009 |
Glomerulosclerosis (disorder)
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
221
|
3
|
0.040 |
None |
1.000 |
4 |
|
1993 |
2004 |
SYMPHALANGISM, PROXIMAL
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
1
|
0.030 |
None |
1.000 |
3 |
|
1995 |
2019 |
Mixed sensory-motor polyneuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
20
|
8
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2019 |
Nephrotic Syndrome
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
384
|
45
|
0.220 |
None |
1.000 |
2 |
|
1993 |
1997 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2019 |
Tubulointerstitial fibrosis
|
phenotype |
|
Disease or Syndrome
|
328
|
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2020 |
Pediatric failure to thrive
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
Disease or Syndrome
|
166
|
122
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2018 |
Failure to thrive in infant
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
81
|
4
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Triglycerides measurement
|
phenotype |
|
Laboratory Procedure
|
563
|
1418
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Mitochondrial Respiratory Chain Deficiencies
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
49
|
3
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Absence of pain sensation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Mental Disorders
|
Finding
|
14
|
3
|
0.400 |
None |
1.000 |
1 |
|
2012 |
2012 |
Polyneuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
156
|
32
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Mitochondrial Myopathies
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
19
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
59
|
13
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Renal glomerular disease
|
group |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
221
|
7
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Miller Dieker syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
182
|
9
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |