Gaucher Disease, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
1.000 |
None |
0.984 |
49 |
51
|
1983 |
2020 |
Intracranial Aneurysm
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
43
|
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
120
|
|
0.500 |
None |
0.989 |
1 |
1
|
2004 |
2020 |
Dyssomnias
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
167
|
|
0.100 |
None |
|
0 |
|
|
|
Calcification of mitral valve
|
disease |
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperkeratosis
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Sleep Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
167
|
|
0.100 |
None |
|
0 |
|
|
|
Frequent falls
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
94
|
|
0.100 |
None |
|
0 |
|
|
|
Expressionless face
|
phenotype |
Nervous System Diseases
|
Finding
|
31
|
|
0.100 |
None |
|
0 |
1
|
|
|
Stillbirth
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Lewy Body Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
8
|
|
0.500 |
None |
1.000 |
0 |
7
|
2008 |
2020 |
Thoracolumbar scoliosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
20
|
|
0.100 |
None |
|
0 |
1
|
|
|
Recurrent aspiration pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Calcification of the aorta
|
phenotype |
|
Pathologic Function
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Weight decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
250
|
|
0.100 |
None |
|
0 |
|
|
|
Pena-Shokeir syndrome type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Spastic/hyperactive bladder
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
324
|
|
0.100 |
None |
|
0 |
1
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness Lower Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
74
|
|
0.100 |
None |
|
0 |
1
|
|
|
Triangular face
|
phenotype |
|
Finding
|
111
|
|
0.100 |
None |
|
0 |
|
|
|
Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
106
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
407
|
|
0.100 |
None |
|
0 |
|
|
|
Supranuclear ophthalmoplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Increased susceptibility to fractures
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|