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 |
|
|
|
Decreased distal sensory nerve action potential
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
Osteomyelitis leading to amputation due to slow healing fractures
|
phenotype |
Infections; Musculoskeletal Diseases
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
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 |
Deoxyguanosine Kinase Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
1
|
0.230 |
None |
1.000 |
9 |
|
1990 |
2017 |
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
4
|
143
|
0.200 |
None |
1.000 |
6 |
|
1990 |
2009 |
SYMPHALANGISM, PROXIMAL
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
1
|
0.030 |
None |
1.000 |
3 |
|
1995 |
2019 |
Reye syndrome-like episodes
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Multiple synostosis syndrome
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
5
|
2
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome)
|
disease |
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Impaired distal tactile sensation
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Cochlear Diseases
|
group |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
6
|
|
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 |
Arteriolar hyalinosis
|
disease |
|
Acquired Abnormality
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Anisocoria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
7
|
5
|
0.100 |
None |
|
0 |
2
|
|
|
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 |
Painless fractures due to injury
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Acral ulceration
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Macrovesicular hepatic steatosis
|
phenotype |
Digestive System Diseases
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Ulnar claw
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Electron Transport Chain Deficiencies, Mitochondrial
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Acute flaccid paralysis
|
phenotype |
|
Sign or Symptom
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Microvesicular hepatic steatosis
|
phenotype |
Digestive System Diseases
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Arteriolosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
13
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |