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 |
Absence of pain sensation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Mental Disorders
|
Finding
|
14
|
3
|
0.400 |
None |
1.000 |
1 |
|
2012 |
2012 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.400 |
limited |
|
0 |
|
|
|
Liver Failure
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
293
|
20
|
0.370 |
strong |
1.000 |
8 |
|
2007 |
2019 |
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.310 |
strong |
1.000 |
2 |
|
2008 |
2014 |
Focal glomerulosclerosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
281
|
50
|
0.310 |
None |
1.000 |
1 |
|
2009 |
2009 |
Proteinuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
239
|
20
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Pigmentation Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Incontinentia Pigmenti Achromians
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
67
|
10
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Mitochondrial Respiratory Chain Deficiencies
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
49
|
3
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Hyalinosis, Segmental Glomerular
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Schamberg Disease
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Electron Transport Chain Deficiencies, Mitochondrial
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Oxidative Phosphorylation Deficiencies
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
18
|
1
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Cochlear Diseases
|
group |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Navajo Familial Neurogenic Arthropathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Deoxyguanosine Kinase Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
1
|
0.230 |
None |
1.000 |
9 |
|
1990 |
2017 |
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 |
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
4
|
143
|
0.200 |
None |
1.000 |
6 |
|
1990 |
2009 |
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 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.120 |
None |
1.000 |
2 |
|
2017 |
2019 |
Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
919
|
110
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Depletion of mitochondrial DNA
|
disease |
|
Disease or Syndrome
|
36
|
7
|
0.100 |
None |
1.000 |
13 |
|
2006 |
2017 |