Patchy osteosclerosis
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Physiologic disinhibition
|
phenotype |
|
Organ or Tissue Function
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
CUI: |
C0030193 |
Disease: |
Pain
|
Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
1554
|
196
|
0.100 |
None |
|
0 |
|
|
|
Gliosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
102
|
3
|
0.100 |
None |
|
0 |
|
|
|
Generalized amyotrophy
|
disease |
|
Disease or Syndrome
|
56
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hallucinations
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
178
|
18
|
0.100 |
None |
|
0 |
|
|
|
Dysdiadochokinesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
49
|
7
|
0.100 |
None |
|
0 |
|
|
|
Serum alkaline phosphatase raised
|
phenotype |
|
Finding
|
67
|
6
|
0.100 |
None |
|
0 |
|
|
|
Fractures of the long bones
|
phenotype |
Wounds and Injuries
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Personality Change
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
43
|
6
|
0.100 |
None |
|
0 |
|
|
|
Winged scapula
|
phenotype |
|
Finding
|
73
|
3
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.100 |
None |
|
0 |
|
|
|
Dysphasia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
63
|
4
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar Dysmetria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
127
|
17
|
0.100 |
None |
|
0 |
|
|
|
Supranuclear gaze palsy
|
phenotype |
|
Finding
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dysgraphia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
43
|
2
|
0.100 |
None |
|
0 |
|
|
|
Echolalia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Rimmed vacuoles on biopsy
|
phenotype |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Neuronal loss in the cerebral cortex
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Poor speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
208
|
9
|
0.100 |
None |
|
0 |
|
|
|
Degeneration of the lateral corticospinal tracts
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Vertical supranuclear gaze palsy
|
disease |
|
Disease or Syndrome
|
18
|
2
|
0.100 |
None |
|
0 |
|
|
|
Facial paralysis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
182
|
3
|
0.100 |
None |
|
0 |
|
|
|
Muscular fasciculation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
99
|
2
|
0.100 |
None |
|
0 |
|
|
|
Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
760
|
67
|
0.100 |
None |
|
0 |
|
|
|