Menkes Kinky Hair Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
99
|
1.000 |
definitive |
1.000 |
132 |
99
|
1953 |
2019 |
Spinal Muscular Atrophy, Distal, X-Linked 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
2
|
9
|
0.900 |
None |
1.000 |
3 |
9
|
2004 |
2012 |
Cutis laxa, x-linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
22
|
10
|
0.800 |
strong |
1.000 |
31 |
10
|
1996 |
2019 |
Aortic Aneurysm, Ruptured
|
disease |
Cardiovascular Diseases; Wounds and Injuries
|
Disease or Syndrome
|
13
|
1
|
0.500 |
None |
1.000 |
2 |
|
1990 |
2015 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.400 |
None |
1.000 |
1 |
2
|
2012 |
2012 |
Cutis Laxa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
70
|
21
|
0.400 |
strong |
1.000 |
1 |
|
2010 |
2010 |
Neurologic Symptoms
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
233
|
30
|
0.320 |
None |
1.000 |
4 |
1
|
2011 |
2017 |
Malignant tumor of colon
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2969
|
688
|
0.310 |
None |
1.000 |
1 |
|
2007 |
2007 |
Focal Neurologic Deficits
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
6
|
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Neurologic Signs
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
13
|
1
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Neurologic Dysfunction
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
6
|
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Neurologic Manifestations
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
12
|
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Aortic Rupture
|
disease |
Cardiovascular Diseases; Wounds and Injuries
|
Disease or Syndrome
|
22
|
|
0.300 |
None |
1.000 |
2 |
|
1990 |
2015 |
Neurological observations
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
6
|
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Neurologic Deficits
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
8
|
4
|
0.300 |
None |
1.000 |
2 |
|
2012 |
2012 |
Resting Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
57
|
5
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Jacksonian Seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
102
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Static Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
62
|
3
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Darkness Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Ataxia, Sensory
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
35
|
1
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Cryptogenic Chronic Hepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
22
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Passive Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Generalized seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
13
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Nerve Tremors
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Tremor, Muscle
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |